Mercurial > repos > elixir-it > vinyl_survival
diff test-data/test_DCM.csv @ 0:a3342d37ab29 draft
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| author | elixir-it |
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| date | Tue, 09 Jun 2020 16:15:40 +0000 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/test_DCM.csv Tue Jun 09 16:15:40 2020 +0000 @@ -0,0 +1,1148 @@ +CHR start gene ref alt AC 1000g2015aug_all CADD_raw CLNDISDB CLNDN CLNSIG ExAC_NFE ExonicFunc.refGene Func.refGene MetaSVM_pred esp6500siv2_ea gnomAD_exome_NFE gnomAD_genome_NFE Score +1 3102754 PRDM16 G A 1 . 3.281 . . . 0 nonsynonymous_SNV exonic T . 9.053e-06 . 4 +1 3301721 PRDM16 C T 19 0.340455 . MedGen:CN169374 not_specified Benign 0.2706 synonymous_SNV exonic . 0.2668 0.2715 0.2782 -2 +1 3301802 PRDM16 G C 1 . . . . . 6.047e-05 synonymous_SNV exonic . . 4.479e-05 6.668e-05 4 +1 3328358 PRDM16 T C 70 0.945088 -0.543 MedGen:CN169374 not_specified Benign 0.8404 nonsynonymous_SNV exonic T 0.8356 0.8350 0.8459 -2 +1 3328659 PRDM16 C T 22 0.10603 3.424 MedGen:CN169374 not_specified Benign 0.1636 nonsynonymous_SNV exonic T 0.1516 0.1563 0.1406 -2 +1 3328915 PRDM16 G A 2 . . MedGen:CN169374 not_specified Likely_benign 6.018e-05 synonymous_SNV exonic . . 7.19e-05 6.686e-05 4 +1 3329213 PRDM16 G A 1 0.00119808 0.736 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0054 nonsynonymous_SNV exonic T 0.0020 0.0028 0.0025 0 +1 3331193 PRDM16 G A 1 0.0179712 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign 0.0002 synonymous_SNV exonic . 0.0006 9.231e-05 6.691e-05 -2 +1 3342307 PRDM16 C T 1 0.00159744 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0021 synonymous_SNV exonic . 0.0020 0.0018 0.0011 0 +1 11906068 NPPA A G 9 0.179113 1.595 MedGen:CN169374 not_specified Benign 0.1343 stoploss exonic . 0.1552 0.1405 0.1399 -2 +1 11907430 NPPA T G 1 0.000599042 -0.738 MedGen:C2677294,OMIM:612201 Atrial_fibrillation,_familial,_6 Likely_benign 0.0028 nonsynonymous_SNV exonic T 0.0028 0.0029 0.0025 0 +1 26385003 TRIM63 T C 19 0.182308 1.211 . . . 0.2195 nonsynonymous_SNV exonic T 0.2165 0.2175 0.1920 -2 +1 26392785 TRIM63 G A 1 0.000599042 . . . . 6.004e-05 synonymous_SNV exonic . 0.0001 7.166e-05 0 0 +1 26392798 TRIM63 A T 1 . 7.079 . . . 1.501e-05 nonsynonymous_SNV exonic T . 1.792e-05 . 7 +1 26392824 TRIM63 C A 5 0.0183706 . . . . 0.0801 synonymous_SNV exonic . 0.0844 0.0864 0.1033 -2 +1 26393851 TRIM63 C G 1 0.00279553 . . . . 0.0087 synonymous_SNV exonic . 0.0073 0.0082 0.0099 0 +1 74929170 na T C 1 0.0209665 4.228 . . . 0.0060 nonsynonymous_SNV exonic D 0.0037 0.0050 0.0046 1 +1 78383653 NEXN A C 1 . 0.790 . . . . nonsynonymous_SNV exonic T . . . 4 +1 78392446 NEXN G A 12 0.150759 5.664 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2142 nonsynonymous_SNV exonic T 0.2073 0.2106 0.2107 -3 +1 78408536 NEXN C G 5 0.122005 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.1133 . UTR3 . 0.0849 0.0854 0.0861 -6 +1 112319658 KCND3 G C 1 . 2.131 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic D . 5.388e-05 . 7 +1 112524680 KCND3 C G 3 0.0081869 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign 0.0201 synonymous_SNV exonic . 0.0186 0.0214 0.0253 -2 +1 112525085 KCND3 G A 8 0.0471246 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1233 synonymous_SNV exonic . 0.1205 0.1253 0.1178 -2 +1 115252280 NRAS C T 1 0.000199681 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign/Likely_benign 0.0005 synonymous_SNV exonic . 0.0006 0.0006 0.0005 0 +1 116243868 CASQ2 A G 6 0.0309505 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0638 synonymous_SNV exonic . 0.0614 0.0631 0.0689 -2 +1 116243877 CASQ2 G A 45 0.425719 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3619 synonymous_SNV exonic . 0.3573 0.3548 0.3609 -2 +1 116310937 CASQ2 C T 1 0.0303514 4.845 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0023 nonsynonymous_SNV exonic T 0.0007 0.0014 0.0025 -2 +1 116310967 CASQ2 T C 28 0.401158 -1.622 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign 0.2837 nonsynonymous_SNV exonic T 0.2891 0.2901 0.2547 -2 +1 147230978 GJA5 G A 2 0.0163738 . MedGen:C1838539,OMIM:108770|MedGen:C3279693,OMIM:614049|MedGen:CN204347,Orphanet:ORPHA334 Atrial_standstill_1|Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation Benign/Likely_benign 0.0069 synonymous_SNV exonic . 0.0064 0.0065 0.0047 -2 +1 156084760 LMNA C T 5 0.00678914 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0371 synonymous_SNV exonic . 0.0126 0.0141 0.0116 -6 +1 156096532 LMNA C T 1 0.00179712 . . . . . . UTR5 . . . 0.0020 0 +1 156104292 LMNA G A 1 0.00798722 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0088 synonymous_SNV exonic . 0.0073 0.0083 0.0075 -4 +1 156104981 LMNA G A 1 . 5.091 . . . . nonsynonymous_SNV exonic D . . . 10 +1 156105028 LMNA T C 9 0.193091 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0745 synonymous_SNV exonic . 0.0751 0.0722 0.0712 -10 +1 156106185 LMNA T C 9 0.249201 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0978 synonymous_SNV exonic . 0.0760 0.0734 0.0717 -10 +1 156107534 LMNA C T 25 0.220248 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.2817 synonymous_SNV exonic . 0.2531 0.2649 0.2486 -10 +1 156107534 LMNA C T 25 0.220248 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.2817 synonymous_SNV exonic . 0.2531 0.2649 0.2486 -10 +1 156108976 LMNA G C 9 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3 . 0.0773 . 0.0708 -2 +1 156108976 LMNA G C 9 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3 . 0.0773 . 0.0708 -2 +1 156109536 LMNA G A 1 0.00319489 . . . . 0.0189 . UTR3 . . 0.0141 0.0106 -2 +1 162313735 NOS1AP C T 29 0.430911 . . . . 0.3647 synonymous_SNV exonic . 0.3571 0.3580 0.3632 -2 +1 162325040 NOS1AP C T 1 . 3.778 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.79e-05 . 4 +1 162335256 NOS1AP C T 19 0.250799 . . . . 0.1195 synonymous_SNV exonic . 0.1199 0.1169 0.1075 -2 +1 162335256 NOS1AP C T 19 0.250799 . . . . 0.1195 synonymous_SNV exonic . 0.1199 0.1169 0.1075 -2 +1 201330429 TNNT2 T C 1 0.0974441 2.213 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0162 nonsynonymous_SNV exonic T 0.0148 0.0151 0.0179 -6 +1 201334382 TNNT2 G A 55 0.695088 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7147 synonymous_SNV exonic . 0.7184 0.7096 0.7202 -6 +1 201334795 TNNT2 C T 4 0.0824681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0634 0.0619 0.0617 -6 +1 201335899 TNNT2 C T 84 0.98143 . . . . . . intronic . 0.9991 . 0.9994 -2 +1 227069677 PSEN2 T C 62 0.735623 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7801 synonymous_SNV exonic . 0.7801 0.7788 0.7619 -6 +1 227069737 PSEN2 C T 48 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5425 synonymous_SNV exonic . 0.5388 0.5342 0.5173 -6 +1 227071449 PSEN2 G A 2 0.0179712 2.001 MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202 Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic D 0.0026 0.0024 0.0015 -3 +1 227071525 PSEN2 C T 48 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5418 synonymous_SNV exonic . 0.5395 0.5348 0.5179 -6 +1 227076719 PSEN2 G C 1 0.00239617 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0078 synonymous_SNV exonic . 0.0041 0.0064 0.0063 0 +1 228399766 OBSCN T C 52 0.726238 . . . . 0.6233 synonymous_SNV exonic . 0.6178 0.6077 0.6101 -2 +1 228399799 OBSCN C T 1 0.0507188 . . . . 0.0482 synonymous_SNV exonic . 0.037 0.0415 0.0477 -2 +1 228402047 OBSCN A G 53 0.719848 . . . . 0.6132 synonymous_SNV exonic . 0.6095 0.6117 0.6098 -2 +1 228402121 OBSCN A G 53 0.719649 3.331 . . . 0.6122 nonsynonymous_SNV exonic T 0.6065 0.6117 0.6104 -2 +1 228402508 OBSCN C T 31 0.275759 . . . . 0.4016 synonymous_SNV exonic . 0.3900 0.3857 0.3888 -2 +1 228404198 OBSCN G A 2 0.0535144 . . . . 0.0822 synonymous_SNV exonic . 0.0367 0.0404 0.0461 -2 +1 228404368 OBSCN G A 1 0.000998403 0.297 . . . 0.0061 nonsynonymous_SNV exonic T 0.0019 0.0030 0.0017 0 +1 228404730 OBSCN G A 1 . . . . . 3.106e-05 synonymous_SNV exonic . . 9.059e-06 . 4 +1 228404763 OBSCN C T 1 0.0177716 . . . . 0.0003 synonymous_SNV exonic . 0.0004 0.0002 6.67e-05 -2 +1 228407059 OBSCN G T 2 0.0135783 . . . . 0.0377 synonymous_SNV exonic . . 0.0369 0.0370 -2 +1 228407260 OBSCN G A 31 0.277157 . . . . 0.4158 synonymous_SNV exonic . . 0.3813 0.3852 -2 +1 228412197 OBSCN C T 1 0.0377396 . . . . 0.0003 synonymous_SNV exonic . 0.0005 0.0003 0.0004 -2 +1 228412227 OBSCN TG CA 32 . . . . . . nonframeshift_substitution exonic . . . . 12 +1 228412308 OBSCN G A 32 0.41254 . . . . 0.3933 synonymous_SNV exonic . 0.3925 0.3930 0.3944 -2 +1 228431095 OBSCN A G 58 0.616613 . . . . 0.6797 synonymous_SNV exonic . 0.6828 0.6767 0.6910 -2 +1 228432264 OBSCN A T 3 0.0171725 0.066 . . . 0.0425 nonsynonymous_SNV exonic T 0.0401 0.0419 0.0395 -2 +1 228433217 OBSCN A G 58 0.616613 . . . . 0.6794 synonymous_SNV exonic . 0.6825 0.6768 0.6913 -2 +1 228434395 OBSCN T C 58 0.617612 . . . . 0.6794 synonymous_SNV exonic . 0.6833 0.6768 0.6906 -2 +1 228434467 OBSCN T C 58 0.66254 . . . . 0.6802 synonymous_SNV exonic . 0.6824 0.6773 0.6917 -2 +1 228434477 OBSCN C T 1 0.000798722 2.479 . . . 0.0001 nonsynonymous_SNV exonic T . 9.016e-05 0.0001 0 +1 228437748 OBSCN C T 1 0.0383387 . . . . 0.0004 synonymous_SNV exonic . 0.0005 0.0003 0.0004 -2 +1 228444410 OBSCN G A 1 . . . . . 1.507e-05 synonymous_SNV exonic . . 2.692e-05 . 4 +1 228444565 OBSCN T A 84 1 0.030 . . . 1 nonsynonymous_SNV exonic T . 1 1 -2 +1 228447271 OBSCN C T 1 . 2.725 . . . . nonsynonymous_SNV exonic T . 8.958e-06 . 4 +1 228451826 OBSCN C T 25 0.30631 0.352 . . . 0.2922 nonsynonymous_SNV exonic T 0.2810 0.2892 0.3003 -2 +1 228452016 OBSCN G C 1 0.00399361 -1.319 . . . 0.0190 nonsynonymous_SNV exonic T 0.0195 0.0186 0.0189 -2 +1 228456382 OBSCN A C 1 0.000599042 2.981 . . . 0.0030 nonsynonymous_SNV exonic T 0.0020 0.0030 0.0014 0 +1 228459745 OBSCN C G 1 . 1.739 . . . . nonsynonymous_SNV exonic T . . . 4 +1 228461129 OBSCN A G 55 0.69349 -0.541 . . . 0.6973 nonsynonymous_SNV exonic T 0.6953 0.6933 0.7098 -2 +1 228461239 OBSCN C T 2 0.00399361 0.058 . . . 0.0084 nonsynonymous_SNV exonic T 0.0109 0.0095 0.0086 -2 +1 228461900 OBSCN G A 1 0.000399361 1.422 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0003 6.671e-05 2 +1 228462020 OBSCN G A 1 . 4.306 . . . 6.098e-05 nonsynonymous_SNV exonic T 0.0001 6.295e-05 6.676e-05 4 +1 228464232 OBSCN C T 1 . 6.226 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 5 +1 228464248 OBSCN T G 56 0.695487 -0.460 . . . 0.6998 nonsynonymous_SNV exonic T 0.6965 0.6944 0.7121 -2 +1 228464255 OBSCN T C 1 0.00259585 4.777 . . . 0.0115 nonsynonymous_SNV exonic T 0.0109 0.0105 0.0102 -2 +1 228464276 OBSCN T C 56 0.663538 -0.742 . . . 0.6993 nonsynonymous_SNV exonic T 0.6960 0.6931 0.7115 -2 +1 228464303 OBSCN G T 1 0.00459265 1.771 . . . 0.0290 nonsynonymous_SNV exonic T 0.0278 0.0253 0.0274 -2 +1 228464398 OBSCN G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +1 228464633 OBSCN C G 2 0.00299521 2.771 . . . 0.0069 nonsynonymous_SNV exonic T 0.0026 0.0010 0.0007 0 +1 228464713 OBSCN G A 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0005 0.0001 6.688e-05 0 +1 228465346 OBSCN A G 33 0.330072 3.591 . . . 0.5114 nonsynonymous_SNV exonic . . 0.3862 0.3808 -2 +1 228468458 OBSCN G A 26 0.31889 1.572 . . . 0.3115 nonsynonymous_SNV exonic T 0.2785 0.3061 0.3193 -2 +1 228469801 OBSCN G C 1 0.0111821 5.043 . . . 0.0216 nonsynonymous_SNV exonic T 0.0219 0.0211 0.0214 1 +1 228470906 OBSCN C T 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0001 0.0001 . 2 +1 228471379 OBSCN G C 29 0.230232 . . . . 0.3727 synonymous_SNV exonic . 0.3681 0.3719 0.3705 -2 +1 228474032 OBSCN G A 2 0.00958466 . . . . 0.0081 synonymous_SNV exonic . 0.0028 0.0012 0.0009 0 +1 228475594 OBSCN G A 1 0.00119808 . . . . 0.0028 synonymous_SNV exonic . 0.0036 0.0037 0.0049 0 +1 228475848 OBSCN G A 26 0.302716 4.107 . . . 0.3041 nonsynonymous_SNV exonic T 0.2973 0.3017 0.3168 -2 +1 228476389 OBSCN C T 1 0.000199681 3.907 . . . 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0001 2 +1 228480282 OBSCN A G 56 0.698882 . . . . 0.7029 synonymous_SNV exonic . 0.7022 0.6999 0.7148 -2 +1 228480441 OBSCN G A 2 0.00958466 . . . . 0.0030 synonymous_SNV exonic . 0.0032 0.0012 0.0009 0 +1 228482010 OBSCN C T 43 0.381989 . . . . 0.4961 synonymous_SNV exonic . 0.4953 0.497 0.5212 -2 +1 228482028 OBSCN G C 13 0.21246 . . . . 0.1837 synonymous_SNV exonic . 0.1766 0.1808 0.1697 -2 +1 228482569 OBSCN G A 7 0.0127796 . . . . 0.0324 synonymous_SNV exonic . 0.0324 0.0338 0.0346 -2 +1 228486404 OBSCN C T 12 0.165935 0.548 . . . 0.1816 nonsynonymous_SNV exonic T 0.1788 0.1769 0.1673 -2 +1 228487800 OBSCN G A 1 . . . . . 4.687e-05 synonymous_SNV exonic . . 4.549e-05 6.67e-05 4 +1 228491633 OBSCN G A 2 0.052516 0.427 . . . 0.0391 nonsynonymous_SNV exonic T 0.0397 0.0372 0.0372 -2 +1 228492044 OBSCN G A 43 0.369209 . . . . 0.4986 synonymous_SNV exonic . 0.4905 0.4974 0.5219 -2 +1 228494144 OBSCN T G 1 . 3.953 . . . 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0008 0.0007 0 +1 228494696 OBSCN G A 13 0.308506 . . . . 0.2636 synonymous_SNV exonic . 0.1945 0.2031 0.1925 -2 +1 228494790 OBSCN G A 42 0.26857 2.944 . . . 0.4976 nonsynonymous_SNV exonic T 0.4939 0.4972 0.5210 -2 +1 228495222 OBSCN C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +1 228496014 OBSCN G A 13 0.213059 . . . . 0.2152 synonymous_SNV exonic . 0.1772 0.1819 0.1705 -2 +1 228496066 OBSCN G T 2 0.00638978 4.677 . . . 0.0628 nonsynonymous_SNV exonic T 0.0313 0.0418 0.0431 -2 +1 228503567 OBSCN G A 1 0.038738 . . . . 0.0003 synonymous_SNV exonic . 0.0005 0.0002 0.0004 -2 +1 228503677 OBSCN A G 55 0.700879 -2.279 . . . 0.7111 nonsynonymous_SNV exonic T 0.7056 0.6950 0.7144 -2 +1 228503711 OBSCN G A 6 0.0129792 . . . . 0.0523 synonymous_SNV exonic . 0.0327 0.0380 0.0432 -2 +1 228504472 OBSCN T C 55 0.699281 -1.304 . . . 0.7040 nonsynonymous_SNV exonic T 0.7008 0.6982 0.7147 -2 +1 228504505 OBSCN G A 1 . 3.639 . . . 3.778e-05 nonsynonymous_SNV exonic T . 2.794e-05 0 4 +1 228504507 OBSCN G T 3 0.00499201 . . . . 0.0256 synonymous_SNV exonic . 0.0203 0.0220 0.0176 -2 +1 228504591 OBSCN C A 13 0.145367 1.476 . . . 0.2674 nonsynonymous_SNV exonic T 0.1672 0.1833 0.1681 -2 +1 228504669 OBSCN G A 13 0.145567 . . . . 0.2135 synonymous_SNV exonic . 0.1453 0.1818 0.1725 -2 +1 228504670 OBSCN C T 41 0.330272 3.693 . . . 0.5071 nonsynonymous_SNV exonic T 0.4398 0.4992 0.5236 -2 +1 228505204 OBSCN G A 13 0.315296 3.357 . . . 0.2095 nonsynonymous_SNV exonic T 0.1944 0.2031 0.1924 -2 +1 228505668 OBSCN C G 55 0.699281 0.755 . . . 0.7027 nonsynonymous_SNV exonic T 0.7016 0.6997 0.7146 -2 +1 228505699 OBSCN T C 55 0.705871 . . . . 0.7045 synonymous_SNV exonic . 0.7008 0.7007 0.7147 -2 +1 228505725 OBSCN A C 1 0.000399361 3.123 . . . 0.0018 nonsynonymous_SNV exonic T 0.0009 0.0007 0.0005 0 +1 228505739 OBSCN G A 13 0.173123 0.313 . . . 0.1804 nonsynonymous_SNV exonic T 0.1735 0.1780 0.1681 -2 +1 228506661 OBSCN G A 1 0.0107827 . . . . 0.0592 synonymous_SNV exonic . 0.0230 0.0234 0.0184 -2 +1 228506912 OBSCN T C 2 0.00419329 5.630 . . . 0.0138 nonsynonymous_SNV exonic T 0.0102 0.0102 0.0089 1 +1 228509367 OBSCN G A 1 0.000199681 6.644 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0001 5 +1 228509427 OBSCN A G 55 0.684704 -0.311 . . . 0.7021 nonsynonymous_SNV exonic T 0.6968 0.6995 0.7147 -2 +1 228520973 OBSCN C G 36 0.335064 1.995 . . . 0.4651 nonsynonymous_SNV exonic T 0.4179 0.4187 0.4485 -2 +1 228520995 OBSCN G A 2 0.00419329 4.051 . . . 0.0127 nonsynonymous_SNV exonic T 0.0098 0.0100 0.0088 -2 +1 228524961 OBSCN C A 35 0.239816 . . . . 0.4306 synonymous_SNV exonic . 0.4226 0.4274 0.4482 -2 +1 228525008 OBSCN G A 11 0.0766773 4.879 . . . 0.1499 nonsynonymous_SNV exonic T 0.1356 0.1403 0.1305 -2 +1 228526011 OBSCN C T 12 0.117612 . . . . 0.1745 synonymous_SNV exonic . 0.1578 0.1490 0.1545 -2 +1 228526614 OBSCN G A 1 . . . . . 0.0013 synonymous_SNV exonic . 0.0007 0.0009 0.0007 0 +1 228526665 OBSCN T C 42 0.494409 . . . . 0.5318 synonymous_SNV exonic . 0.5569 0.5179 0.5447 -2 +1 228528563 OBSCN C G 41 0.538738 0.194 . . . 0.5577 nonsynonymous_SNV exonic T 0.5203 0.5185 0.5473 -2 +1 228547901 OBSCN C T 29 0.298722 . . . . 0.2981 synonymous_SNV exonic . 0.3011 0.2996 0.2846 -2 +1 228548197 OBSCN G A 6 0.147764 -0.089 . . . 0.0996 nonsynonymous_SNV exonic T 0.0857 0.0907 0.0958 -2 +1 228548360 OBSCN G A 1 0.00199681 . . . . 0.0047 synonymous_SNV exonic . 0.0055 0.0047 0.0054 0 +1 228550344 OBSCN G A 1 0.000199681 . . . . 0.0008 synonymous_SNV exonic . 0.0007 0.0007 0.0005 0 +1 228550426 OBSCN C T 6 0.146965 -0.124 . . . 0.1364 nonsynonymous_SNV exonic T 0.0834 0.0910 0.0959 -2 +1 228550429 OBSCN C T 2 0.0443291 0.627 . . . 0.0622 nonsynonymous_SNV exonic T 0.0362 0.0374 0.0360 -2 +1 228553251 OBSCN G A 1 . . . . . 0.0002 synonymous_SNV exonic . 0.0001 0.0001 0.0001 2 +1 228553257 OBSCN C T 1 . . . . . 2.02e-05 synonymous_SNV exonic . . 1.843e-05 . 4 +1 228553261 OBSCN C T 1 . 5.029 . . . 2.019e-05 nonsynonymous_SNV exonic T . 2.772e-05 0 7 +1 228557681 OBSCN G A 1 . 7.200 . . . 0.0002 nonsynonymous_SNV exonic T 0.0004 0.0001 6.693e-05 5 +1 228557709 OBSCN G A 1 . . . . . 1.513e-05 synonymous_SNV exonic . . 1.794e-05 0 4 +1 228558892 OBSCN C T 5 0.033746 6.518 . . . 0.0775 nonsynonymous_SNV exonic T 0.0650 0.0658 0.0713 1 +1 228559083 OBSCN C T 1 . . . . . . synonymous_SNV exonic . . 2.279e-05 0 4 +1 228559450 OBSCN G A 1 0.00199681 -0.731 . . . 0.0111 nonsynonymous_SNV exonic T 0.0077 0.0118 0.0099 -2 +1 228559467 OBSCN G A 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +1 228559654 OBSCN G A 1 0.00499201 1.765 . . . 0.0156 nonsynonymous_SNV exonic T 0.0152 0.0137 0.0112 -2 +1 228559967 OBSCN C T 2 0.00499201 2.939 . . . 0.0326 nonsynonymous_SNV exonic T 0.0136 0.0139 0.0110 -2 +1 228559994 OBSCN C T 38 0.589058 2.792 . . . 0.5975 nonsynonymous_SNV exonic T 0.5033 0.5120 0.4981 -2 +1 228560034 OBSCN C T 1 0.013778 . . . . 0.0016 synonymous_SNV exonic . 0.0005 0.0004 0.0009 -2 +1 228560139 OBSCN A G 81 0.974241 . . . . 0.9239 synonymous_SNV exonic . 0.9259 0.9205 0.9202 -2 +1 228560700 OBSCN T C 50 0.757987 . . . . 0.5550 synonymous_SNV exonic . 0.5485 0.5490 0.5350 -2 +1 228562350 OBSCN T C 1 0.00519169 . . . . 0.0261 synonymous_SNV exonic . 0.0280 0.0253 0.0283 -2 +1 228563477 OBSCN G A 1 0.0141773 6.443 . . . 0.0001 nonsynonymous_SNV exonic T . 0.0001 6.693e-05 1 +1 228563773 OBSCN C T 1 0.000199681 . . . . 0.0006 synonymous_SNV exonic . 0.0007 0.0004 0.0003 0 +1 228564884 OBSCN G A 6 0.140775 1.749 . . . 0.1419 nonsynonymous_SNV exonic T 0.0847 0.0935 0.0981 -2 +1 228565208 OBSCN C T 6 0.0117812 . . . . 0.0437 synonymous_SNV exonic . 0.0354 0.0385 0.0430 -2 +1 228565329 OBSCN G A 2 0.00499201 3.334 . . . 0.0222 nonsynonymous_SNV exonic T 0.0231 0.0225 0.0180 -2 +1 236882303 ACTN2 T C 84 0.992612 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 0.9998 1.0000 1 -2 +1 236883421 ACTN2 C T 77 0.920727 . MedGen:CN169374 not_specified Benign 0.9953 synonymous_SNV exonic . 0.9953 0.9951 0.9949 -2 +1 236902652 ACTN2 C T 1 0.000199681 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Likely_benign 0 synonymous_SNV exonic . . 8.954e-06 0 -2 +1 236911022 ACTN2 G A 1 . 5.467 . . . . nonsynonymous_SNV exonic T . . . 7 +1 236925844 ACTN2 G A 7 0.196086 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1447 synonymous_SNV exonic . 0.1392 0.1441 0.1429 -6 +1 237617737 RYR2 T C 1 . . . . . 3.004e-05 synonymous_SNV exonic . . 1.806e-05 . 4 +1 237617757 RYR2 C T 39 0.535743 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5907 synonymous_SNV exonic . 0.6005 0.5953 0.5988 -2 +1 237617790 RYR2 C A 1 . -0.132 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Uncertain_significance 6.008e-05 nonsynonymous_SNV exonic T . 6.291e-05 . 4 +1 237617793 RYR2 C A 1 . . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign 4.506e-05 synonymous_SNV exonic . . 3.594e-05 6.666e-05 4 +1 237656289 RYR2 C T 1 0.00219649 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0117 synonymous_SNV exonic . 0.0083 0.0072 0.0052 -2 +1 237670107 RYR2 A G 1 . 6.031 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 5.386e-05 0.0002 8 +1 237711797 RYR2 A G 77 0.830272 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9594 synonymous_SNV exonic . 0.9585 0.9589 0.9567 -2 +1 237753998 RYR2 C T 1 . 6.079 . . . . nonsynonymous_SNV exonic D . . . 10 +1 237755076 RYR2 A G 4 0.0071885 1.769 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0242 nonsynonymous_SNV exonic T 0.0218 0.0234 0.0272 -2 +1 237774113 RYR2 G A 1 . 4.374 . . . 0 nonsynonymous_SNV exonic D . 1.823e-05 0 7 +1 237778082 RYR2 G A 2 0.00978435 -1.771 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0237 nonsynonymous_SNV exonic T 0.0234 0.0264 0.0280 -2 +1 237778084 RYR2 G A 2 0.076278 0.814 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0307 nonsynonymous_SNV exonic T 0.0311 0.0308 0.0263 -2 +1 237801770 RYR2 T C 84 0.954872 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9994 0.9998 0.9999 -2 +1 237813369 RYR2 A G 1 . 3.518 . . . . nonsynonymous_SNV exonic D . . . 7 +1 237814783 RYR2 C T 31 0.554912 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.4739 synonymous_SNV exonic . 0.4361 0.4232 0.4477 -2 +1 237831251 RYR2 G A 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +1 237841390 RYR2 A G 20 0.0992412 2.365 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.3459 nonsynonymous_SNV exonic T 0.3042 0.3066 0.3170 -2 +1 237863718 RYR2 T G 84 0.969249 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9994 0.9993 -2 +1 237881770 RYR2 C T 62 0.960463 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9995 synonymous_SNV exonic . 0.9995 0.9995 0.9995 -2 +1 237890437 RYR2 C T 84 0.960264 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9995 0.9995 -2 +1 237947000 RYR2 C T 5 0.0123802 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0170 synonymous_SNV exonic . 0.0173 0.0154 0.0130 -2 +1 237955496 RYR2 A G 1 . -1.326 . . . 1.61e-05 nonsynonymous_SNV exonic T . 1.797e-05 . 4 +2 39213443 SOS1 T G 1 . 1.571 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . nonsynonymous_SNV exonic T . . 6.665e-05 4 +2 47403674 CALM2 G T 1 0.00139776 . . . . 0 nonsynonymous_SNV exonic . . 2.582e-05 0 0 +2 105977761 FHL2 G A 13 0.111422 . MedGen:CN169374 not_specified Benign 0.1934 synonymous_SNV exonic . 0.1959 0.1935 0.1913 -2 +2 105977776 FHL2 G A 11 0.0517173 . MedGen:CN169374 not_specified Benign 0.1184 synonymous_SNV exonic . 0.1270 0.1223 0.1172 -2 +2 105979752 FHL2 G A 2 0.00459265 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign 0.0075 synonymous_SNV exonic . 0.0126 0.0098 0.0103 -10 +2 179391754 TTN A G 1 0.000399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0010 synonymous_SNV exonic . 0.0011 0.0013 0.0013 4 +2 179393111 TTN A G 6 0.0920527 0.471 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0216 nonsynonymous_SNV exonic T 0.0207 0.0205 0.0187 -6 +2 179393691 TTN G A 1 0.00379393 3.210 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0094 nonsynonymous_SNV exonic T 0.0068 0.0083 0.0160 -4 +2 179393859 TTN A G 2 0.00459265 2.010 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0201 nonsynonymous_SNV exonic T 0.0178 0.0176 0.0172 2 +2 179395067 TTN C G 8 0.0509185 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0878 synonymous_SNV exonic . 0.0874 0.0890 0.0873 -6 +2 179395554 TTN GC AA 3 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . nonframeshift_substitution exonic . . . . 4 +2 179395560 TTN G A 6 0.0792732 3.557 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 nonsynonymous_SNV exonic T 0.0208 0.0205 0.0186 -6 +2 179395573 TTN C T 4 0.00658946 4.028 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0201 nonsynonymous_SNV exonic T 0.0175 0.0203 0.0186 -10 +2 179395760 TTN G A 6 0.091254 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 synonymous_SNV exonic . 0.0205 0.0206 0.0189 -6 +2 179395958 TTN T C 21 0.508187 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2314 synonymous_SNV exonic . 0.2231 0.2261 0.2310 -6 +2 179396114 TTN C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0014 synonymous_SNV exonic . 0.0023 0.0008 0.0007 4 +2 179396162 TTN C G 5 0.0229633 2.686 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0418 nonsynonymous_SNV exonic T 0.0436 0.0438 0.0486 -6 +2 179396354 TTN G A 12 0.231829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1451 0.1444 0.1547 -6 +2 179396573 TTN T G 1 0.00379393 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0095 synonymous_SNV exonic . 0.0068 0.0083 0.0159 -4 +2 179396766 TTN C T 1 0.00359425 3.918 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0176 nonsynonymous_SNV exonic T 0.0145 0.0171 0.0221 -6 +2 179397561 TTN C T 12 0.208666 4.497 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1455 nonsynonymous_SNV exonic T 0.1442 0.1441 0.1542 -6 +2 179398509 TTN C A 6 0.0780751 3.098 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0212 nonsynonymous_SNV exonic T 0.0198 0.0202 0.0185 -6 +2 179398823 TTN G A 12 0.232029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1465 0.1447 0.1549 -6 +2 179399576 TTN C G 1 0.00459265 1.720 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0099 nonsynonymous_SNV exonic T 0.0104 0.0110 0.0099 2 +2 179399677 TTN C T 1 0.00119808 2.339 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0055 nonsynonymous_SNV exonic T 0.0065 0.0062 0.0052 -4 +2 179400895 TTN C T 5 0.0654952 3.526 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0182 nonsynonymous_SNV exonic T 0.0174 0.0179 0.0169 -6 +2 179401078 TTN G A 1 0.000199681 4.313 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 0 nonsynonymous_SNV exonic D 0.0001 0 6.666e-05 5 +2 179401742 TTN C T 3 0.00479233 4.269 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0193 nonsynonymous_SNV exonic T 0.0210 0.0201 0.0199 -6 +2 179403750 TTN C T 3 0.076877 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0324 nonsynonymous_SNV exonic T 0.0287 0.0323 0.0284 -6 +2 179404402 TTN T C 2 0.00399361 1.106 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0067 nonsynonymous_SNV exonic T 0.0081 0.0071 0.0057 -4 +2 179404628 TTN T A 5 0.0425319 2.893 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0177 nonsynonymous_SNV exonic T 0.0170 0.0177 0.0167 -6 +2 179406191 TTN C T 12 0.209265 5.326 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1472 nonsynonymous_SNV exonic T 0.1453 0.1439 0.1545 -3 +2 179407663 TTN G A 1 0.00119808 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign 0.0011 synonymous_SNV exonic . 0.0012 0.0010 0.0008 -4 +2 179408713 TTN A G 3 0.115815 2.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0343 nonsynonymous_SNV exonic T 0.0322 0.0347 0.0300 -6 +2 179410282 TTN A G 3 0.00559105 2.442 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0158 nonsynonymous_SNV exonic T 0.0159 0.0174 0.0150 2 +2 179410704 TTN G A 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0117 synonymous_SNV exonic . 0.0108 0.0119 0.0105 2 +2 179412966 TTN G A 2 0.00898562 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0316 synonymous_SNV exonic . 0.0284 0.0312 0.0311 -6 +2 179413110 TTN G A 12 0.234225 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1470 synonymous_SNV exonic . 0.1460 0.1448 0.1548 -6 +2 179413452 TTN G A 2 0.0121805 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0280 synonymous_SNV exonic . 0.0315 0.0294 0.0241 2 +2 179413522 TTN C T 1 . 3.769 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 6e-05 nonsynonymous_SNV exonic T . 7.193e-05 0 4 +2 179414162 TTN T C 1 0.0347444 -0.886 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0016 0.0017 0.0026 -6 +2 179414318 TTN C T 3 0.15016 2.929 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0337 nonsynonymous_SNV exonic T 0.0308 0.0334 0.0294 -6 +2 179416556 TTN A C 3 0.152356 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0352 synonymous_SNV exonic . 0.0328 0.0354 0.0311 -6 +2 179417867 TTN T G 2 . 0.586 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 4.509e-05 nonsynonymous_SNV exonic T . 2.702e-05 . 4 +2 179419792 TTN G A 1 0.00179712 3.106 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0045 0.0044 0.0077 4 +2 179421609 TTN C T 3 0.0842652 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0325 synonymous_SNV exonic . 0.0291 0.0324 0.0284 -6 +2 179421694 TTN A G 21 0.507188 -0.530 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2298 nonsynonymous_SNV exonic T 0.2206 0.2240 0.2291 -6 +2 179422805 TTN A G 1 . . . . . . synonymous_SNV exonic . . 9.007e-06 . 4 +2 179424333 TTN A C 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0005 synonymous_SNV exonic . 0.0006 0.0006 0.0006 4 +2 179427186 TTN A G 21 0.508786 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2312 synonymous_SNV exonic . 0.2228 0.2252 0.2311 -6 +2 179427536 TTN T C 21 0.508387 0.936 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2335 nonsynonymous_SNV exonic T 0.2229 0.2261 0.2309 -6 +2 179427778 TTN C T 1 . 5.379 MedGen:CN169374 not_specified Likely_benign 4.496e-05 nonsynonymous_SNV exonic T . 3.593e-05 6.663e-05 7 +2 179429612 TTN A G 1 0.000599042 1.929 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0005 4 +2 179430997 TTN G A 18 0.342252 2.294 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1691 nonsynonymous_SNV exonic T 0.1669 0.1655 0.1745 -6 +2 179431076 TTN C G 1 0.00738818 2.573 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0190 nonsynonymous_SNV exonic D 0.0200 0.0198 0.0245 -7 +2 179431797 TTN A T 6 0.0926518 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 synonymous_SNV exonic . 0.0208 0.0209 0.0197 -6 +2 179432185 TTN A G 21 0.129992 3.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3013 nonsynonymous_SNV exonic T 0.3030 0.3052 0.3241 -6 +2 179433143 TTN C T 1 0.000199681 3.289 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0015 0.0011 0.0011 4 +2 179434137 TTN A G 1 0.000399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0038 synonymous_SNV exonic . 0.0036 0.0040 0.0027 4 +2 179434516 TTN C T 6 0.0792732 2.413 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 nonsynonymous_SNV exonic T 0.0202 0.0208 0.0193 -6 +2 179435337 TTN T G 3 0.143171 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0351 synonymous_SNV exonic . 0.0327 0.0353 0.0307 -6 +2 179436020 TTN G A 12 0.208067 3.394 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1448 nonsynonymous_SNV exonic T 0.1442 0.1436 0.1528 -6 +2 179437523 TTN G A 1 0.00119808 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0007 0.0010 0.0009 -4 +2 179438866 TTN C T 3 0.0978435 4.024 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0326 nonsynonymous_SNV exonic T 0.0292 0.0326 0.0286 -6 +2 179439877 TTN G A 1 . 2.456 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . nonsynonymous_SNV exonic D . 9.09e-06 . 7 +2 179440029 TTN G A 21 0.146565 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2979 synonymous_SNV exonic . 0.2975 0.3020 0.3216 -6 +2 179440163 TTN C G 1 0.00439297 2.942 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0126 nonsynonymous_SNV exonic T 0.0161 0.0124 0.0160 -6 +2 179440182 TTN A G 1 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0044 synonymous_SNV exonic . 0.0051 0.0043 0.0070 -4 +2 179441038 TTN C T 1 0.000199681 1.904 MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0023 0.0021 0.0022 4 +2 179441295 TTN T C 1 0.00299521 1.439 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0095 nonsynonymous_SNV exonic D 0.0092 0.0085 0.0074 -5 +2 179441386 TTN G A 1 0.00299521 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0162 synonymous_SNV exonic . 0.0130 0.0157 0.0214 -6 +2 179443540 TTN A G 3 0.135982 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0351 synonymous_SNV exonic . 0.0327 0.0353 0.0309 -6 +2 179444051 TTN C T 1 0.000199681 4.138 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 . 2 +2 179444768 TTN C G 84 0.994609 -0.011 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 nonsynonymous_SNV exonic T 0.9999 0.9997 0.9999 -6 +2 179444939 TTN C T 20 0.351238 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1776 nonsynonymous_SNV exonic T 0.1769 0.1739 0.1805 -6 +2 179446381 TTN C T 1 0.00579073 3.234 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0225 nonsynonymous_SNV exonic T 0.0219 0.0223 0.0175 2 +2 179447731 TTN G A 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Likely_benign 9.368e-05 synonymous_SNV exonic . 0.0001 7.334e-05 0.0002 0 +2 179447848 TTN T C 21 0.513778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2377 synonymous_SNV exonic . 0.2244 0.2271 0.2316 -6 +2 179449131 TTN G A 4 0.0107827 3.355 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0374 nonsynonymous_SNV exonic T 0.0426 0.0398 0.0350 -6 +2 179449186 TTN G A 1 0.0129792 4.103 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic T 0.0028 0.0026 0.0016 -6 +2 179451420 TTN G A 21 0.507588 3.015 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2301 nonsynonymous_SNV exonic T 0.2197 0.2241 0.2281 -6 +2 179453429 TTN G A 1 0.00579073 -0.383 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0143 nonsynonymous_SNV exonic T 0.0163 0.0139 0.0127 2 +2 179453894 TTN A G 1 . 2.680 . . . 1.5e-05 nonsynonymous_SNV exonic T 0.0001 1.801e-05 6.668e-05 4 +2 179454394 TTN A G 21 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2326 synonymous_SNV exonic . 0.2249 0.2270 0.2314 -6 +2 179455207 TTN T C 21 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2330 synonymous_SNV exonic . 0.2242 0.2269 0.2315 -6 +2 179456221 TTN G A 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 7.568e-05 synonymous_SNV exonic . . 5.759e-05 . 0 +2 179456541 TTN T C 1 . 2.246 . . . 0.0009 nonsynonymous_SNV exonic T 0.0011 0.0001 6.664e-05 0 +2 179457147 TTN G A 12 0.213059 2.159 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1473 0.1444 0.1539 -6 +2 179458002 TTN G A 1 0.034345 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0023 synonymous_SNV exonic . 0.0017 0.0017 0.0026 -6 +2 179458591 TTN C T 12 0.21246 4.706 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1465 nonsynonymous_SNV exonic T 0.1473 0.1453 0.1540 -6 +2 179462494 TTN A G 21 0.126997 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3002 synonymous_SNV exonic . 0.3001 0.3054 0.3235 -6 +2 179463576 TTN A G 1 . 2.259 . . . . nonsynonymous_SNV exonic T . 9.022e-06 . 4 +2 179463991 TTN C T 1 0.00359425 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0122 synonymous_SNV exonic . 0.0110 0.0122 0.0107 -6 +2 179464527 TTN T C 21 0.51278 2.157 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2340 nonsynonymous_SNV exonic T 0.2261 0.2276 0.2319 -6 +2 179467100 TTN C T 1 0.00179712 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0106 synonymous_SNV exonic . 0.0133 0.0120 0.0132 2 +2 179469438 TTN A G 1 . . . . . 1.52e-05 synonymous_SNV exonic . . 9.104e-06 . 4 +2 179473176 TTN A C 1 . 0.240 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 6.384e-05 nonsynonymous_SNV exonic T . 6.65e-05 . 4 +2 179474668 TTN G A 3 0.0726837 3.431 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 nonsynonymous_SNV exonic T 0.0131 0.0126 0.0117 -6 +2 179474928 TTN T A 1 . 21.211 . . . . stopgain exonic . . . . 12 +2 179477267 TTN T G 3 0.00638978 1.693 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0235 nonsynonymous_SNV exonic T 0.0198 0.0211 0.0208 -6 +2 179477717 TTN A G 3 0.0736821 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0130 0.0126 0.0117 -6 +2 179479245 TTN C T 3 0.072484 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0127 0.0126 0.0117 -6 +2 179482089 TTN C T 1 0.00299521 4.000 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0146 nonsynonymous_SNV exonic T 0.0088 0.0075 0.0069 2 +2 179482763 TTN C T 3 0.00139776 2.469 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0047 nonsynonymous_SNV exonic T 0.0048 0.0030 0.0027 8 +2 179485846 TTN G C 1 . 2.918 . . . 0.0007 nonsynonymous_SNV exonic T 0.0010 0.0002 0.0001 0 +2 179485947 TTN G A 1 . . . . . 3.019e-05 synonymous_SNV exonic . . 2.712e-05 6.671e-05 4 +2 179497018 TTN G A 1 0.0161741 3.684 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0004 nonsynonymous_SNV exonic T 0.0007 9.244e-05 0.0003 -6 +2 179497025 TTN A G 1 0.0395367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0036 0.0034 0.0043 -6 +2 179497133 TTN C T 3 0.00698882 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0346 synonymous_SNV exonic . 0.0290 0.0300 0.0430 -6 +2 179497981 TTN A G 1 . 1.395 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 0 nonsynonymous_SNV exonic T . 9.009e-06 6.664e-05 4 +2 179498042 TTN T C 5 0.0509185 2.465 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1043 nonsynonymous_SNV exonic T 0.1098 0.1075 0.1110 -6 +2 179498303 TTN T C 1 0.109425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0247 synonymous_SNV exonic . 0.0211 0.0241 0.0229 -6 +2 179514941 TTN TTTTCCTCTTCAGGAGCAA T 2 0.033147 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0103 nonframeshift_deletion exonic . 0.0049 0.0065 0.0078 -6 +2 179515483 TTN G C 1 0.0393371 0.743 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0093 nonsynonymous_SNV exonic T 0.0034 0.0034 0.0043 -6 +2 179516831 TTN G C 1 . 2.161 . . . 1.502e-05 nonsynonymous_SNV exonic T . 1.794e-05 . 4 +2 179517019 TTN A T 1 0.00279553 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0119 synonymous_SNV exonic . 0.0110 0.0121 0.0107 2 +2 179523029 TTN T A 1 . 0.074 . . . . nonsynonymous_SNV exonic T . 0 . 4 +2 179527075 TTN T C 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . synonymous_SNV exonic . . 0 0 4 +2 179527095 TTN G A 1 0.0091853 0.568 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0267 nonsynonymous_SNV exonic . . 0.0262 0.0182 -10 +2 179528068 TTN C A 1 0.057508 1.906 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0062 nonsynonymous_SNV exonic T 0.0045 0.0042 0.0047 -10 +2 179528068 TTN C A 1 0.057508 1.906 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0062 nonsynonymous_SNV exonic T 0.0045 0.0042 0.0047 -10 +2 179528378 TTN C T 3 0.259185 2.900 MedGen:CN169374 not_specified Benign 0.0632 nonsynonymous_SNV exonic T 0.0560 0.0595 0.0572 -2 +2 179528759 TTN T C 1 0.000199681 0.496 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign 0.0034 nonsynonymous_SNV exonic T 0.0040 0.0038 0.0025 -4 +2 179528788 TTN T C 1 0.0183706 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0016 synonymous_SNV exonic . 0.0013 0.0007 0.0007 -10 +2 179543217 TTN C T 15 0.238419 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2297 synonymous_SNV exonic . 0.1604 0.1558 0.1636 -6 +2 179544685 TTN C CTCT 1 0.00459265 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:C2751898,OMIM:603829|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|Paroxysmal_familial_ventricular_fibrillation_1|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0162 nonframeshift_insertion exonic . 0.0168 0.0181 0.0173 2 +2 179545859 TTN C T 20 0.125998 2.302 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3005 nonsynonymous_SNV exonic T 0.3031 0.3030 0.3243 -6 +2 179547465 TTN C T 1 0.00139776 1.213 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T 0.0011 0.0010 0.0012 4 +2 179549131 TTN C T 1 0.00539137 2.951 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0176 nonsynonymous_SNV exonic T 0.0180 0.0168 0.0168 -6 +2 179549474 TTN G A 1 0.000199681 2.695 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0004 6 +2 179554305 TTN C T 24 0.413339 4.097 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3697 nonsynonymous_SNV exonic T 0.3605 0.3561 0.3821 -6 +2 179554549 TTN G C 1 0.000599042 1.700 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0003 4 +2 179558366 TTN T C 21 0.477835 1.533 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2457 nonsynonymous_SNV exonic T 0.2286 0.2271 0.2289 -6 +2 179569387 TTN T A 2 0.0105831 2.427 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0259 nonsynonymous_SNV exonic T 0.0266 0.0255 0.0296 -6 +2 179571448 TTN A G 1 0.127396 2.835 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0280 nonsynonymous_SNV exonic T 0.0261 0.0270 0.0260 -6 +2 179575511 TTN C T 6 0.0273562 3.915 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0518 nonsynonymous_SNV exonic T 0.0570 0.0552 0.0558 -6 +2 179578704 TTN G A 1 0.111422 2.101 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0277 nonsynonymous_SNV exonic T 0.0256 0.0265 0.0254 -6 +2 179578730 TTN G A 19 0.444688 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2023 synonymous_SNV exonic . 0.2012 0.2022 0.2036 -6 +2 179579093 TTN T C 18 0.247005 -0.712 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1458 nonsynonymous_SNV exonic T 0.1506 0.1501 0.1514 -6 +2 179579212 TTN T C 19 0.483427 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2041 synonymous_SNV exonic . 0.2019 0.2031 0.2030 -6 +2 179579822 TTN T A 19 0.444489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2020 synonymous_SNV exonic . 0.2005 0.2025 0.2030 -6 +2 179579977 TTN G A 2 0.00938498 3.568 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0207 nonsynonymous_SNV exonic T 0.0223 0.0211 0.0256 2 +2 179582327 TTN C T 18 0.24381 1.700 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1508 0.1496 0.1515 -6 +2 179582537 TTN G T 19 0.444888 2.566 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2037 nonsynonymous_SNV exonic T 0.2018 0.2023 0.2029 -6 +2 179582824 TTN C T 1 0.0235623 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0109 synonymous_SNV exonic . 0.0069 0.0099 0.0077 -6 +2 179582853 TTN T C 6 0.0121805 1.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0297 nonsynonymous_SNV exonic T 0.0308 0.0299 0.0260 -6 +2 179583317 TTN G A 5 0.0734824 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1051 synonymous_SNV exonic . 0.1101 0.1091 0.1114 -6 +2 179583496 TTN T G 18 0.238818 0.820 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1454 nonsynonymous_SNV exonic T 0.1517 0.1501 0.1519 -6 +2 179585257 TTN G C 1 0.00499201 1.967 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0025 nonsynonymous_SNV exonic T 0.0021 0.0021 0.0016 -4 +2 179585266 TTN C T 84 0.982029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 -6 +2 179586756 TTN C T 1 0.000199681 3.020 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0030 nonsynonymous_SNV exonic T 0.0040 0.0027 0.0032 4 +2 179587130 TTN C G 18 0.247005 2.840 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1457 nonsynonymous_SNV exonic T 0.1523 0.1500 0.1519 -6 +2 179587546 TTN A G 1 0.0940495 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0270 synonymous_SNV exonic . 0.0242 0.0264 0.0253 -6 +2 179587552 TTN T C 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0116 synonymous_SNV exonic . 0.0118 0.0118 0.0089 -10 +2 179589058 TTN G A 1 0.0357428 2.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0040 nonsynonymous_SNV exonic T 0.0031 0.0029 0.0041 -6 +2 179589241 TTN G A 1 0.0515176 3.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0198 nonsynonymous_SNV exonic T 0.0190 0.0195 0.0199 -6 +2 179590329 TTN C T 3 0.00658946 3.112 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0163 nonsynonymous_SNV exonic D 0.0173 0.0179 0.0154 -7 +2 179593270 TTN A G 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0115 synonymous_SNV exonic . 0.0104 0.0114 0.0101 2 +2 179593352 TTN C T 1 0.0932508 1.515 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0275 nonsynonymous_SNV exonic T 0.0246 0.0266 0.0253 -6 +2 179593862 TTN G A 1 0.0241613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0067 synonymous_SNV exonic . 0.0065 0.0064 0.0065 -6 +2 179594107 TTN G C 3 0.000599042 0.841 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0048 nonsynonymous_SNV exonic T 0.0050 0.0030 0.0027 8 +2 179595372 TTN T C 1 0.00219649 1.928 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0112 nonsynonymous_SNV exonic T 0.0104 0.0115 0.0101 2 +2 179597242 TTN C A 2 0.000399361 1.791 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic D 0.0013 0.0009 0.0007 7 +2 179598228 TTN A G 11 0.0295527 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0786 synonymous_SNV exonic . 0.0792 0.0797 0.0776 -6 +2 179600563 TTN G A 84 0.981829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 -6 +2 179600648 TTN C T 4 0.144768 0.315 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0500 nonsynonymous_SNV exonic T 0.0479 0.0473 0.0471 -6 +2 179604160 TTN T G 4 0.076278 -1.298 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 nonsynonymous_SNV exonic T 0.0431 0.0444 0.0441 -2 +2 179604366 TTN T G 4 0.0760783 -0.781 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 nonsynonymous_SNV exonic T 0.0435 0.0445 0.0440 -2 +2 179604742 TTN G A 4 0.0766773 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0433 0.0444 0.0441 -2 +2 179605180 TTN C T,A 4 0.0760783 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . . 0.0443 0.0442 -10 +2 179605705 TTN A G 4 0.0760783 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0437 0.0444 0.0442 -2 +2 179605725 TTN T C 1 0.0161741 -1.264 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0184 nonsynonymous_SNV exonic T 0.0185 0.0195 0.0161 -10 +2 179605991 TTN G A 1 0.00279553 1.510 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0116 nonsynonymous_SNV exonic T 0.0118 0.0118 0.0087 -10 +2 179606538 TTN G A 5 0.273163 1.979 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0854 nonsynonymous_SNV exonic T 0.0732 0.0740 0.0723 -2 +2 179606590 TTN T C 1 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0010 0.0008 0.0007 -4 +2 179610510 TTN G C 1 . . . . . . synonymous_SNV exonic . . . . 4 +2 179610836 TTN C T 1 0.000199681 0.898 . . . 1.501e-05 nonsynonymous_SNV exonic T 0.0001 9.046e-06 6.67e-05 2 +2 179611711 TTN C A 4 0.0772764 0.758 MedGen:CN169374 not_specified Benign 0.0459 nonsynonymous_SNV exonic T 0.0433 0.0444 0.0441 -2 +2 179612214 TTN A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +2 179612383 TTN C T 4 0.0145767 1.322 MedGen:CN169374 not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0582 0.0580 0.0492 -2 +2 179612883 TTN A G 2 0.00339457 . MedGen:CN169374 not_specified Benign 0.0111 synonymous_SNV exonic . 0.0128 0.0125 0.0111 -2 +2 179613191 TTN T C 1 0.00259585 0.041 MedGen:CN169374 not_specified Benign 0.0107 nonsynonymous_SNV exonic T 0.0093 0.0085 0.0068 -2 +2 179613651 TTN G A 1 0.0109824 . MedGen:CN169374 not_specified Benign 0.0288 synonymous_SNV exonic . 0.0356 0.0331 0.0291 -2 +2 179614952 TTN A G 84 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 -2 +2 179615887 TTN T C 79 0.733027 0.654 MedGen:CN169374 not_specified Benign 0.9251 nonsynonymous_SNV exonic T 0.9303 0.9291 0.9301 -2 +2 179615931 TTN C G 84 0.97504 0.163 MedGen:CN169374 not_specified Benign 0.9997 nonsynonymous_SNV exonic T 0.9992 0.9998 0.9999 -2 +2 179615994 TTN T C 84 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9998 -2 +2 179620951 TTN C T 79 0.804513 3.252 MedGen:CN169374 not_specified Benign 0.9274 nonsynonymous_SNV exonic T 0.9321 0.9303 0.9314 -2 +2 179621184 TTN G A 3 0.00519169 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0164 synonymous_SNV exonic . 0.0146 0.0165 0.0154 -10 +2 179621477 TTN C T 84 0.999002 . MedGen:CN169374 not_specified Benign/Likely_benign 1 nonsynonymous_SNV exonic . 1 1.0000 1 -2 +2 179621503 TTN C T 4 0.00638978 2.386 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0201 nonsynonymous_SNV exonic T 0.0176 0.0202 0.0186 -10 +2 179623758 TTN C T 79 0.808906 1.814 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9274 nonsynonymous_SNV exonic T 0.9324 0.9303 0.9313 -6 +2 179628918 TTN C T 3 0.00379393 3.746 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0148 nonsynonymous_SNV exonic T 0.0164 0.0155 0.0153 -10 +2 179629363 TTN T C 84 0.973642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 -6 +2 179629461 TTN C T 79 0.804912 2.855 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9273 nonsynonymous_SNV exonic T 0.9322 0.9303 0.9314 -6 +2 179631214 TTN T C 5 0.167732 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0720 synonymous_SNV exonic . 0.0667 0.0690 0.0684 -6 +2 179632496 TTN T C 1 0.0860623 1.376 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 nonsynonymous_SNV exonic T 0.0212 0.0233 0.0225 -6 +2 179633644 TTN G C 1 0.0866613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 synonymous_SNV exonic . 0.0215 0.0233 0.0225 -6 +2 179634936 TTN C T 4 0.08127 2.325 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0476 nonsynonymous_SNV exonic T 0.0451 0.0455 0.0457 -6 +2 179634961 TTN C A 2 0.00758786 2.904 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0212 nonsynonymous_SNV exonic T 0.0220 0.0222 0.0231 -10 +2 179637861 TTN C G 4 0.0754792 1.057 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0458 nonsynonymous_SNV exonic T 0.0433 0.0442 0.0442 -6 +2 179638238 TTN G A 5 0.0754792 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1080 synonymous_SNV exonic . 0.1147 0.1125 0.1134 -6 +2 179638721 TTN C T 1 0.0874601 2.444 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0248 nonsynonymous_SNV exonic T 0.0221 0.0234 0.0225 -6 +2 179639143 TTN GA TT 1 . . . . . . nonframeshift_substitution exonic . . . . 4 +2 179641975 TTN C T 4 0.0752796 2.306 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0456 nonsynonymous_SNV exonic T 0.0430 0.0442 0.0440 -6 +2 179642589 TTN C G 1 0.0103834 4.261 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0116 nonsynonymous_SNV exonic T 0.0076 0.0106 0.0089 -10 +2 179643775 TTN C T 1 0.00379393 3.042 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0096 nonsynonymous_SNV exonic T 0.0073 0.0084 0.0162 -4 +2 179644035 TTN G A 84 0.920128 2.581 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9890 nonsynonymous_SNV exonic T 0.9914 0.9898 0.9889 -6 +2 179644855 TTN T C 75 0.5002 2.524 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.8655 nonsynonymous_SNV exonic T 0.8702 0.8685 0.8651 -6 +2 179647546 TTN A G 5 0.0776757 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0500 synonymous_SNV exonic . 0.0476 0.0483 0.0520 -6 +2 179650408 TTN G A 27 0.100439 2.681 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2383 nonsynonymous_SNV exonic T 0.2345 0.2369 0.2096 -6 +2 179650701 TTN C T 31 0.204673 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.4010 synonymous_SNV exonic . 0.4057 0.4034 0.4251 -6 +2 179658175 TTN C T 1 0.00758786 2.756 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0200 nonsynonymous_SNV exonic T 0.0233 0.0225 0.0207 -6 +2 179659912 TTN G A 4 0.236022 2.207 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0508 nonsynonymous_SNV exonic T 0.0531 0.0513 0.0551 -6 +2 179666982 TTN C A 1 0.0289537 3.822 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0065 nonsynonymous_SNV exonic T 0.0059 0.0065 0.0050 -6 +2 220283259 DES A G 81 0.886182 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9889 synonymous_SNV exonic . 0.9877 0.9886 0.9896 -10 +2 220283277 DES T C 81 0.866014 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9886 synonymous_SNV exonic . 0.9880 0.9882 0.9892 -10 +2 220283470 DES G A 1 . 7.014 . . . . nonsynonymous_SNV exonic D . . . 10 +2 220283556 DES G A 1 0.0171725 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0020 synonymous_SNV exonic . 0.0007 0.0005 0.0005 -10 +2 220283592 DES C T 1 0.0123802 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0753 synonymous_SNV exonic . 0.0352 0.0384 0.0435 -10 +2 220285002 DES T C 1 0.029353 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0008 synonymous_SNV exonic . 0.0008 0.0010 0.0012 -10 +2 220285002 DES T C 1 0.029353 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0008 synonymous_SNV exonic . 0.0008 0.0010 0.0012 -10 +2 220285309 DES C T 26 0.33746 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3555 0.3562 0.3400 -10 +2 220285666 DES G C 26 0.33766 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3631 synonymous_SNV exonic . 0.3551 0.3551 0.3399 -10 +2 220286142 DES G A 26 0.333666 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3552 0.3567 0.3410 -10 +3 8775589 CAV3 C T 8 0.0425319 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1248 0.1301 0.1246 -2 +3 8775661 CAV3 C T 27 0.371006 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2648 synonymous_SNV exonic . 0.2388 0.2547 0.2666 -2 +3 8787220 CAV3 T C 17 0.152955 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2372 synonymous_SNV exonic . 0.2410 0.2384 0.2446 -2 +3 8787266 CAV3 G A 1 . 6.327 MedGen:CN517202 not_provided not_provided 0 nonsynonymous_SNV exonic D . 0 . 10 +3 8787330 CAV3 C T 2 0.00199681 4.085 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic D 0.0044 0.0037 0.0027 3 +3 12626047 RAF1 G A 1 . 2.621 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736 Rasopathy|not_specified|Cardiovascular_phenotype Uncertain_significance 1.498e-05 nonsynonymous_SNV exonic T . 3.588e-05 . 4 +3 14172381 TMEM43 C T 1 0.00399361 . MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0124 synonymous_SNV exonic . 0.0121 0.0137 0.0123 -2 +3 14174427 TMEM43 A T 16 0.352636 2.489 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2792 nonsynonymous_SNV exonic T 0.2878 0.2838 0.2893 -2 +3 14175262 TMEM43 T C 17 0.463259 0.428 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2864 nonsynonymous_SNV exonic T 0.2955 0.2909 0.2967 -2 +3 14180706 TMEM43 C T 2 0.0213658 . MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0210 synonymous_SNV exonic . 0.02 0.0213 0.0181 -2 +3 14180731 TMEM43 C T 1 0.00379393 7.570 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0113 nonsynonymous_SNV exonic T 0.0134 0.0121 0.0123 1 +3 32181761 GPD1L C T 13 0.14976 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1307 synonymous_SNV exonic . 0.1387 0.1348 0.1251 -2 +3 32200322 GPD1L T C 24 0.479433 . . . . 0.3354 . intronic . 0.3065 0.3094 0.3225 -2 +3 38592406 SCN5A A G 29 0.492412 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3338 synonymous_SNV exonic . 0.3336 0.3339 0.3240 -6 +3 38597180 SCN5A G A 3 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0044 synonymous_SNV exonic . 0.0045 0.0047 0.0060 4 +3 38601665 SCN5A C T 1 0.00359425 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0131 synonymous_SNV exonic . 0.0138 0.0134 0.0123 -2 +3 38622467 SCN5A T C 69 0.923123 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8898 synonymous_SNV exonic . 0.8830 0.8897 0.8978 -6 +3 38629013 SCN5A C T 1 . 7.044 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Primary_dilated_cardiomyopathy|Cardiomyopathy|Congenital_long_QT_syndrome|Brugada_syndrome|not_specified Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic D . 8.951e-06 . 10 +3 38645281 SCN5A C A 1 . . . . . . synonymous_SNV exonic . . . . 4 +3 38645420 SCN5A T C 23 0.230431 -1.102 . . . 0.2246 nonsynonymous_SNV exonic T 0.2321 0.2301 0.2467 -2 +3 38645506 SCN5A A G 1 0.00199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0085 synonymous_SNV exonic . 0.0081 0.0073 0.0062 0 +3 38674699 SCN5A G A 1 0.0371406 5.725 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0012 nonsynonymous_SNV exonic T 0.0013 0.0014 0.0014 -3 +3 38674712 SCN5A T C 66 0.781749 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7906 synonymous_SNV exonic . 0.8072 0.7949 0.7774 -6 +3 38739574 SCN10A T C 84 1 0.227 MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic T . 1 1 -2 +3 38739622 SCN10A C T 2 0.00638978 0.274 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0144 nonsynonymous_SNV exonic T 0.0137 0.0139 0.0133 -2 +3 38739845 SCN10A A G 82 0.92472 . MedGen:CN169374 not_specified Benign 0.9180 synonymous_SNV exonic . 0.9151 0.9162 0.9122 -2 +3 38740001 SCN10A C T 2 0.0579073 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0148 synonymous_SNV exonic . 0.0142 0.0143 0.0139 -2 +3 38748833 SCN10A T C 18 0.242412 . MedGen:CN169374 not_specified Benign 0.1396 synonymous_SNV exonic . 0.1430 0.1404 0.1377 -2 +3 38753732 SCN10A A T 1 0.00119808 -1.271 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Benign 0.0066 nonsynonymous_SNV exonic T 0.0065 0.0072 0.0053 0 +3 38755500 SCN10A G T 1 . . . . . 0.0002 synonymous_SNV exonic . 0.0001 0.0002 6.663e-05 2 +3 38763863 SCN10A G C 20 0.219649 . MedGen:CN169374 not_specified Benign 0.2636 synonymous_SNV exonic . 0.2602 0.2571 0.2677 -2 +3 38764998 SCN10A A G 20 0.219649 0.961 MedGen:CN169374 not_specified Benign 0.3007 nonsynonymous_SNV exonic T 0.26 0.2587 0.2678 -2 +3 38766675 SCN10A A G 49 0.757987 -0.943 MedGen:CN169374 not_specified Benign 0.6036 nonsynonymous_SNV exonic T 0.6019 0.6030 0.6167 -2 +3 38766701 SCN10A C T 6 0.115415 . MedGen:CN169374 not_specified Benign 0.1411 synonymous_SNV exonic . 0.1414 0.1448 0.1510 -2 +3 38766760 SCN10A G T 2 0.00559105 0.370 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0224 nonsynonymous_SNV exonic T 0.0317 0.0244 0.0246 -2 +3 38768247 SCN10A G A 18 0.190495 . MedGen:CN169374 not_specified Benign 0.2635 synonymous_SNV exonic . 0.2614 0.2571 0.2661 -2 +3 38768300 SCN10A T C 19 0.210663 -1.544 MedGen:CN169374 not_specified Benign 0.2642 nonsynonymous_SNV exonic T 0.2620 0.2575 0.2662 -2 +3 38768334 SCN10A T C 12 0.135982 . MedGen:CN169374 not_specified Benign 0.0644 synonymous_SNV exonic . 0.0648 0.0656 0.0613 -2 +3 38793752 SCN10A C T 2 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0004 synonymous_SNV exonic . 0.0006 0.0004 0.0003 0 +3 38793874 SCN10A C T 1 . 2.227 . . . . nonsynonymous_SNV exonic D . 0 . 7 +3 38793940 SCN10A A G 3 0.139976 -0.356 MedGen:CN169374 not_specified Benign 0.0288 nonsynonymous_SNV exonic T 0.0280 0.0285 0.0276 -2 +3 38793989 SCN10A G A 19 0.207668 . MedGen:CN169374 not_specified Benign 0.2599 synonymous_SNV exonic . 0.2523 0.2507 0.2585 -2 +3 38798171 SCN10A C T 18 0.207468 . MedGen:CN169374 not_specified Benign 0.2542 synonymous_SNV exonic . 0.2509 0.2474 0.2567 -2 +3 38805069 SCN10A T C 2 0.0419329 1.807 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0156 nonsynonymous_SNV exonic T 0.0159 0.0156 0.0147 -2 +3 38835500 SCN10A A G 1 . 5.158 . . . 4.501e-05 nonsynonymous_SNV exonic D . 2.703e-05 6.667e-05 10 +3 46904812 MYL3 G A 2 0.0371406 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0066 synonymous_SNV exonic . 0.0074 0.0065 0.0075 -2 +3 57882601 SLMAP C T 24 0.299521 . MedGen:CN169374 not_specified Benign 0.2669 synonymous_SNV exonic . 0.2420 0.2560 0.2499 -2 +3 57898376 SLMAP T A 2 0.0071885 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0282 synonymous_SNV exonic . 0.0320 0.0294 0.0254 -2 +3 57902639 SLMAP G A 2 0.0133786 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0334 synonymous_SNV exonic . 0.0322 0.0327 0.033 -2 +3 57908707 SLMAP A G 1 0.000199681 2.207 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 6.66e-05 2 +3 196771513 DLG1 G A 3 0.0251597 4.635 . . . 0.0535 nonsynonymous_SNV exonic T 0.0471 0.0510 0.0556 -2 +3 196771554 DLG1 T C 3 0.0253594 . . . . 0.0535 synonymous_SNV exonic . 0.0470 0.0517 0.0557 -2 +3 196792163 DLG1 C T 2 0.00419329 7.123 . . . 0.0247 nonsynonymous_SNV exonic T 0.0245 0.0250 0.0240 1 +3 196807928 DLG1 A C 1 0.00559105 1.923 . . . 0.0109 nonsynonymous_SNV exonic T 0.0134 0.0119 0.0103 -2 +3 196865242 DLG1 C T 14 0.127995 4.417 . . . 0.1487 nonsynonymous_SNV exonic T 0.1473 0.1455 0.1379 -2 +3 196921360 DLG1 T C 2 0.0145767 2.040 . . . 0.0470 nonsynonymous_SNV exonic T 0.0443 0.0453 0.0511 -2 +3 197009662 DLG1 C T 1 . 2.951 . . . 1.5e-05 nonsynonymous_SNV exonic T . 0 . 4 +4 114163351 ANK2 G A 1 . 7.151 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 0.0002 7 +4 114213631 ANK2 C T 1 0.0215655 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0445 synonymous_SNV exonic . 0.0366 0.0355 0.0472 -2 +4 114257201 ANK2 C T 9 0.260383 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0990 synonymous_SNV exonic . 0.1038 0.0993 0.1036 -2 +4 114263043 ANK2 G T 1 . 1.294 . . . . nonsynonymous_SNV exonic T . . . 4 +4 114269433 ANK2 A G 1 0.000998403 4.056 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1833154|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_4|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0002 0.0008 0.0005 0 +4 114275243 ANK2 C T 17 0.0389377 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1139 synonymous_SNV exonic . 0.1119 0.1123 0.1214 -2 +4 114276880 ANK2 T C 17 0.0920527 -2.250 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1189 nonsynonymous_SNV exonic T 0.1163 0.1166 0.1250 -2 +4 114276884 ANK2 A G 17 0.284944 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1603 synonymous_SNV exonic . 0.1620 0.1576 0.1616 -2 +4 114276894 ANK2 G T 1 . -2.700 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.801e-05 . 4 +4 114279422 ANK2 A G 17 0.0920527 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1192 synonymous_SNV exonic . 0.1158 0.1167 0.1244 -2 +4 114279674 ANK2 C A 1 0.00998403 2.371 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0264 nonsynonymous_SNV exonic D 0.0317 0.0271 0.0297 1 +4 114280329 ANK2 C T 1 . . . . . 3e-05 synonymous_SNV exonic . . 9e-06 . 4 +4 114288900 ANK2 A G 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 4.485e-05 6.668e-05 4 +4 114294308 ANK2 T C 17 0.313299 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1581 synonymous_SNV exonic . 0.1601 0.1561 0.1617 -2 +4 114302634 ANK2 C T 6 0.0177716 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign 0.0394 . UTR3 . 0.0347 0.0373 0.0282 -2 +4 120057716 MYOZ2 A C 2 . 4.360 . . . . nonsynonymous_SNV exonic T . 0 . 4 +4 120072187 MYOZ2 A G 1 0.00379393 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0149 synonymous_SNV exonic . 0.0140 0.0147 0.0127 -2 +4 120085448 MYOZ2 A G 3 0.0838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0251 synonymous_SNV exonic . 0.0248 0.0257 0.0257 -2 +4 186423637 PDLIM3 G A 67 0.659545 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.8484 synonymous_SNV exonic . 0.8535 0.8525 0.8604 -2 +4 186427735 PDLIM3 G A 1 0.00559105 1.346 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0242 nonsynonymous_SNV exonic T 0.0210 0.0253 0.0287 -10 +4 186435393 PDLIM3 C T 1 . . . . . 1.499e-05 . intronic . . 1.791e-05 . 4 +5 223646 SDHA A T 2 0.0185703 0.820 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0442 nonsynonymous_SNV exonic T 0.0456 0.0458 0.0444 -2 +5 224633 SDHA A G 18 0.240016 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1253 synonymous_SNV exonic . 0.1294 0.1261 0.1134 -2 +5 226160 SDHA A C 19 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1279 synonymous_SNV exonic . 0.1359 0.1282 0.1135 -2 +5 228362 SDHA T C 19 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1360 0.1282 0.1140 -2 +5 231111 SDHA T C 59 0.653355 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.7574 synonymous_SNV exonic . 0.7582 0.7575 0.7589 -2 +5 233665 SDHA C T 1 0.00399361 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0066 synonymous_SNV exonic . 0.0074 0.0061 0.0057 0 +5 233698 SDHA G A 1 0.000399361 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign 0.0013 synonymous_SNV exonic . 0.0012 0.0015 0.0011 0 +5 233734 SDHA C G 19 0.257788 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1283 synonymous_SNV exonic . 0.1373 0.1285 0.1132 -2 +5 233750 SDHA C A 1 . . . . . 1.498e-05 synonymous_SNV exonic . . 8.957e-06 . 4 +5 235364 SDHA C T 1 0.113618 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0032 synonymous_SNV exonic . 0.0035 0.0029 0.0025 -2 +5 236587 SDHA G T 2 0.0151757 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0235 synonymous_SNV exonic . 0.0208 0.0197 0.0196 -2 +5 251178 SDHA G A 1 0.00199681 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0029 synonymous_SNV exonic . 0.0028 0.0029 0.0015 0 +5 251469 SDHA G A 19 0.248403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1280 synonymous_SNV exonic . . 0.1231 0.1131 -2 +5 251541 SDHA A G 19 0.248403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1276 synonymous_SNV exonic . 0.1357 0.1272 0.1137 -2 +5 254599 SDHA A T 19 . 0.503 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.1268 nonsynonymous_SNV exonic T 0.0448 0.1224 0.1118 -2 +5 256472 SDHA G A 18 0.335264 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1407 synonymous_SNV exonic . 0.1436 0.1323 0.1233 -2 +5 256509 SDHA G A 19 0.175319 0.913 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1205 nonsynonymous_SNV exonic T 0.1299 0.1229 0.1084 -2 +5 37294473 NUP155 T C 14 0.277157 . . . . 0.3075 synonymous_SNV exonic . 0.2929 0.2896 0.2895 -2 +5 37333727 NUP155 A G 13 0.355032 . . . . 0.1704 synonymous_SNV exonic . 0.1599 0.1620 0.1693 -2 +5 37364443 NUP155 C T 82 0.969649 . . . . 1.0000 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2 +5 37364443 NUP155 C T 82 0.969649 . . . . 1.0000 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2 +5 155771510 SGCD G C 1 0.00139776 3.009 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0003 nonsynonymous_SNV exonic T . 0.0002 . -4 +5 155771579 SGCD T C 39 0.485423 . MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign 0.4360 synonymous_SNV exonic . 0.4316 0.4309 0.4331 -10 +5 155935687 SGCD A T 1 . 4.725 . . . . nonsynonymous_SNV exonic D . . . 7 +5 155935708 SGCD G A 7 0.0189696 7.006 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0635 nonsynonymous_SNV exonic T 0.0642 0.0636 0.0574 -3 +5 172662024 na T C 25 0.535743 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3027 synonymous_SNV exonic . 0.2813 0.2975 0.2926 -2 +6 7542253 DSP G A 1 0.00339457 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181 Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0160 synonymous_SNV exonic . 0.0087 0.0095 0.0049 2 +6 7542274 DSP T C 4 0.0609026 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.1147 synonymous_SNV exonic . 0.0524 0.0557 0.0529 -2 +6 7556046 DSP T TGCA 1 . . . . . . nonframeshift_insertion exonic . . . . 4 +6 7563008 DSP G A 1 . 7.167 . . . . nonsynonymous_SNV exonic T . 0 . 7 +6 7563983 DSP T G 84 1 . MedGen:CN169374 not_specified Likely_benign 0.9985 synonymous_SNV exonic . 0.9981 0.9986 0.9992 -2 +6 7565727 DSP A T 1 0.0183706 5.980 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0394 nonsynonymous_SNV exonic D 0.0419 0.0397 0.0387 8 +6 7572262 DSP A G 68 0.774361 . MedGen:CN169374 not_specified Benign 0.7720 synonymous_SNV exonic . 0.7795 0.7704 0.7585 -2 +6 7576527 DSP G A 69 0.735423 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.7998 synonymous_SNV exonic . 0.8024 0.8007 0.7824 -2 +6 7577260 DSP C T 19 0.27516 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.2210 synonymous_SNV exonic . 0.2159 0.2193 0.2309 -2 +6 7580386 DSP G A 4 0.00579073 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0192 synonymous_SNV exonic . 0.0149 0.0178 0.0175 2 +6 7580958 DSP A G 2 0.203275 0.670 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.0455 nonsynonymous_SNV exonic T 0.0442 0.0418 0.0382 -2 +6 7581636 DSP G A 10 0.240415 0.509 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided Benign 0.1230 nonsynonymous_SNV exonic T 0.1257 0.1218 0.1245 -2 +6 7584617 DSP C T 28 0.211661 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.3568 synonymous_SNV exonic . 0.3690 0.3556 0.3318 -2 +6 7585670 DSP C A 7 0.0239617 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0674 synonymous_SNV exonic . 0.0633 0.0675 0.0605 -6 +6 7585842 DSP A C 1 . 5.198 . . . . nonsynonymous_SNV exonic T . . . 7 +6 7585967 DSP G C 59 0.709465 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.7101 synonymous_SNV exonic . 0.7173 0.7084 0.6820 -10 +6 26091179 HFE C G 15 0.0730831 4.570 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided Pathogenic,_other,_risk_factor 0.1368 nonsynonymous_SNV exonic D 0.1513 0.1441 0.1440 1 +6 26091179 HFE C G 15 0.0730831 4.570 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided Pathogenic,_other,_risk_factor 0.1368 nonsynonymous_SNV exonic D 0.1513 0.1441 0.1440 1 +6 26091185 HFE A T 1 0.00399361 4.972 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Uncertain_significance 0.0149 nonsynonymous_SNV exonic D 0.0151 0.0155 0.0137 1 +6 26091185 HFE A T 1 0.00399361 4.972 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Uncertain_significance 0.0149 nonsynonymous_SNV exonic D 0.0151 0.0155 0.0137 1 +6 26093141 HFE G A 4 0.0125799 5.270 .|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor 0.0514 nonsynonymous_SNV exonic D 0.0641 0.0573 0.0593 4 +6 26093141 HFE G A 4 0.0125799 5.270 .|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor 0.0514 nonsynonymous_SNV exonic D 0.0641 0.0573 0.0593 4 +6 26093236 HFE G A 10 0.13139 . . HFE_INTRONIC_POLYMORPHISM Benign 0.1300 . intronic . 0.1291 0.1251 0.1261 -2 +6 26093236 HFE G A 10 0.13139 . . HFE_INTRONIC_POLYMORPHISM Benign 0.1300 . intronic . 0.1291 0.1251 0.1261 -2 +6 76542594 MYO6 A G 1 . 1.434 . . . . nonsynonymous_SNV exonic T . 8.957e-06 . 4 +6 76564897 MYO6 T C 1 0.013778 1.966 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T 0.0007 0.0001 6.669e-05 -2 +6 76564953 MYO6 A G 1 0.0265575 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0138 synonymous_SNV exonic . 0.0130 0.0142 0.0145 -2 +6 76576290 MYO6 C T 3 0.0289537 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0609 0.0615 0.0583 -2 +6 76623854 MYO6 C T 1 . 8.579 . . . 2.997e-05 nonsynonymous_SNV exonic D . 1.791e-05 0 10 +6 76624538 MYO6 G A 1 0.00559105 7.271 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0140 nonsynonymous_SNV exonic D 0.0130 0.0122 0.0090 4 +6 112435912 LAMA4 A T 28 0.281749 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2904 synonymous_SNV exonic . 0.2894 0.2864 0.2846 -10 +6 112440464 LAMA4 G A 1 0.0666933 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0013 synonymous_SNV exonic . 0.0020 0.0011 0.0007 -10 +6 112453970 LAMA4 G A 1 . . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Likely_benign 0.0002 synonymous_SNV exonic . 0.0006 0.0002 0.0001 0 +6 112454030 LAMA4 G T 1 . 2.395 . . . . nonsynonymous_SNV exonic T . . . 4 +6 112457383 LAMA4 G C 26 0.210463 4.097 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2560 nonsynonymous_SNV exonic T 0.2603 0.2561 0.2516 -10 +6 112457390 LAMA4 C T 60 0.839856 2.280 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7033 nonsynonymous_SNV exonic T 0.6965 0.7023 0.7204 -10 +6 112460365 LAMA4 C T 3 0.00359425 8.015 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0138 nonsynonymous_SNV exonic D 0.0130 0.0139 0.0135 -4 +6 112463389 LAMA4 G T 1 . 3.692 MedGen:CN169374 not_specified Uncertain_significance 8.991e-05 nonsynonymous_SNV exonic T . 0.0002 0.0001 2 +6 112476767 LAMA4 A G 1 . . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0014 synonymous_SNV exonic . 0.0009 0.0014 0.0020 4 +6 112480041 LAMA4 A G 4 0.091254 . MedGen:CN169374 not_specified Benign 0.0987 synonymous_SNV exonic . 0.0881 0.0964 0.1301 -2 +6 112493872 LAMA4 A G 56 0.758387 -0.041 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.6004 nonsynonymous_SNV exonic T 0.6020 0.5971 0.6020 -10 +6 112506496 LAMA4 G A 1 0.000998403 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0003 0.0002 6.666e-05 -4 +6 112508694 LAMA4 A G 1 0.000199681 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0038 synonymous_SNV exonic . 0.0036 0.0039 0.0039 -8 +6 112508769 LAMA4 TG GT 84 . . MedGen:CN169374 not_specified Benign . nonframeshift_substitution exonic . . . . 12 +6 112512905 LAMA4 G A 9 0.316893 . MedGen:CN169374 not_specified Benign 0.1338 synonymous_SNV exonic . 0.1219 0.1299 0.1536 -2 +6 112522852 LAMA4 G A 1 0.0309505 7.272 MedGen:CN169374 not_specified Benign 0.0609 nonsynonymous_SNV exonic T 0.0649 0.0648 0.0627 1 +6 112575014 LAMA4 A G 1 0.00599042 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0166 synonymous_SNV exonic . 0.0143 0.0158 0.0229 -10 +6 121768710 GJA1 G A 2 0.034345 . MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN031062,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified Benign/Likely_benign 0.0126 synonymous_SNV exonic . 0.0148 0.0124 0.0153 -2 +6 121768751 GJA1 C T 1 0.00299521 0.820 MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374 Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified Benign/Likely_benign 0.0123 nonsynonymous_SNV exonic T 0.0160 0.0138 0.0119 -2 +6 123673628 TRDN C T 4 0.00898562 . . . . 0.0404 . UTR3 . 0.0399 0.0417 0.0465 -2 +6 123673628 TRDN C T 4 0.00898562 . . . . 0.0404 . UTR3 . 0.0399 0.0417 0.0465 -2 +6 123687288 TRDN A C 78 0.939297 0.489 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.9106 nonsynonymous_SNV exonic T 0.9156 0.9089 0.9157 -2 +6 123687297 TRDN G T 1 . 2.998 . . . 0 nonsynonymous_SNV exonic T . 0 . 4 +6 123696766 TRDN G T 10 0.147364 0.783 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1474 nonsynonymous_SNV exonic T 0.1188 0.1186 0.1296 -2 +6 123699042 TRDN T C 10 0.272165 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4311 synonymous_SNV exonic . 0.3635 0.3904 0.3618 -2 +6 123824837 TRDN C T 1 0.000399361 -0.166 MedGen:CN169374 not_specified Likely_benign 9.845e-05 nonsynonymous_SNV exonic . 0.0001 0.0001 6.673e-05 2 +6 123824837 TRDN C T 1 0.000399361 -0.166 MedGen:CN169374 not_specified Likely_benign 9.845e-05 nonsynonymous_SNV exonic . 0.0001 0.0001 6.673e-05 2 +6 123869607 TRDN G C 43 0.392971 -0.436 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.5608 nonsynonymous_SNV exonic T 0.5375 0.5166 0.5242 -2 +6 123957904 TRDN G A 2 . 3.418 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Uncertain_significance 6.017e-05 nonsynonymous_SNV exonic T . 2.704e-05 6.668e-05 4 +6 129371106 LAMA2 C T 17 0.0706869 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.1232 synonymous_SNV exonic . 0.1164 0.1162 0.1159 -2 +6 129381026 LAMA2 C A 77 0.936701 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.9705 synonymous_SNV exonic . 0.9699 0.9694 0.9723 -2 +6 129571272 LAMA2 G A 2 0.00958466 6.614 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0172 nonsynonymous_SNV exonic T 0.0206 0.0180 0.0169 1 +6 129571330 LAMA2 G A 14 0.270966 -0.271 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.1346 nonsynonymous_SNV exonic T 0.14 0.1358 0.1374 -2 +6 129612808 LAMA2 A G 25 0.313898 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.2253 synonymous_SNV exonic . 0.2272 0.2253 0.2232 -2 +6 129635800 LAMA2 G A 4 0.120008 2.722 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0415 nonsynonymous_SNV exonic T 0.0469 0.0427 0.0398 -2 +6 129636723 LAMA2 C G 1 . -2.769 . . . . nonsynonymous_SNV exonic T . . . 4 +6 129663525 LAMA2 G A 1 0.000399361 5.210 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 1.499e-05 nonsynonymous_SNV exonic T . 8.983e-06 0 5 +6 129687396 LAMA2 G A 3 0.0101837 2.753 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0290 nonsynonymous_SNV exonic T 0.0330 0.0301 0.0282 -2 +6 129691132 LAMA2 C G 7 0.0966454 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0631 synonymous_SNV exonic . 0.0615 0.0602 0.0541 -2 +6 129722389 LAMA2 A G 48 0.544529 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.4678 synonymous_SNV exonic . 0.4653 0.4610 0.4523 -2 +6 129722425 LAMA2 G A 47 0.543331 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.4658 synonymous_SNV exonic . 0.4641 0.4592 0.4496 -2 +6 129762042 LAMA2 C A 1 0.0303514 1.020 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0005 -2 +6 129762112 LAMA2 G A 11 0.182508 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.1514 synonymous_SNV exonic . 0.1457 0.1544 0.1698 -2 +6 129763368 LAMA2 A G 1 0.0305511 . . . . 0.0004 synonymous_SNV exonic . 0.0003 0.0003 0.0005 -2 +6 129777560 LAMA2 C T 1 0.00299521 0.636 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T . 0.0002 6.665e-05 0 +6 129802516 LAMA2 G A 1 . 6.690 . . . 0.0002 nonsynonymous_SNV exonic D . 0.0001 6.664e-05 8 +6 129807629 LAMA2 C T 66 0.583866 7.378 MedGen:CN169374 not_specified Benign 0.7148 nonsynonymous_SNV exonic D 0.7265 0.7167 0.7152 4 +6 129807699 LAMA2 G C 66 0.584265 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.7149 synonymous_SNV exonic . 0.7266 0.7169 0.7153 -2 +6 129807714 LAMA2 G A 17 0.403754 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.2597 synonymous_SNV exonic . 0.2488 0.2591 0.2609 -2 +6 129813053 LAMA2 A G 3 0.111621 2.164 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0759 nonsynonymous_SNV exonic T 0.0630 0.0674 0.0676 -2 +6 129813175 LAMA2 T C 1 0.0185703 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0138 synonymous_SNV exonic . 0.0130 0.0144 0.0123 -2 +6 133789728 EYA4 G A 28 0.409545 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign 0.3197 nonsynonymous_SNV exonic T 0.3128 0.3223 0.3103 -3 +6 133789728 EYA4 G A 28 0.409545 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign 0.3197 nonsynonymous_SNV exonic T 0.3128 0.3223 0.3103 -3 +6 133789765 EYA4 C T 1 0.000399361 4.801 MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202 Dilated_cardiomyopathy_1J|not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0017 4 +6 133789765 EYA4 C T 1 0.000399361 4.801 MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202 Dilated_cardiomyopathy_1J|not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0017 4 +6 133849868 EYA4 C T 1 0.0081869 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype Benign 0.0143 synonymous_SNV exonic . 0.0128 0.0124 0.0107 -10 +6 133849966 TARID C T 29 0.471046 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Likely_benign 0.3777 . ncRNA_intronic . 0.3865 0.3807 0.3957 -6 +6 152443744 SYNE1 G T 8 0.076877 4.671 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1516 nonsynonymous_SNV exonic T 0.1398 0.1501 0.1644 -2 +6 152443761 SYNE1 C T 4 0.0648962 1.625 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0386 nonsynonymous_SNV exonic T 0.0335 0.0350 0.0438 -2 +6 152453291 SYNE1 G A 7 0.0257588 1.797 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0739 nonsynonymous_SNV exonic T 0.0745 0.0769 0.0768 -2 +6 152453307 SYNE1 C G 1 0.000399361 7.289 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 6.666e-05 5 +6 152457795 SYNE1 C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0016 synonymous_SNV exonic . 0.0019 0.0020 0.0027 0 +6 152464839 SYNE1 A G 51 0.689696 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5481 synonymous_SNV exonic . 0.5564 0.5516 0.5468 -2 +6 152466674 SYNE1 T C 32 0.366214 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3171 synonymous_SNV exonic . 0.3301 0.3201 0.3112 -2 +6 152469188 SYNE1 C G 33 0.399361 0.755 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3230 nonsynonymous_SNV exonic T 0.3373 0.3248 0.3163 -2 +6 152469204 SYNE1 G A 1 0.00219649 2.924 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0071 nonsynonymous_SNV exonic T 0.0056 0.0069 0.0090 0 +6 152469331 SYNE1 C T 28 0.339457 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2768 synonymous_SNV exonic . 0.2944 0.2810 0.2778 -2 +6 152470752 SYNE1 C A 8 0.115615 2.796 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0548 0.0534 0.0441 -2 +6 152473181 SYNE1 T C 6 0.0365415 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0470 synonymous_SNV exonic . 0.0441 0.0439 0.0386 -2 +6 152501416 SYNE1 C T 1 0.00119808 4.749 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Likely_benign 0.0060 nonsynonymous_SNV exonic T 0.0055 0.0063 0.0060 0 +6 152510429 SYNE1 G A 1 0.00119808 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0022 synonymous_SNV exonic . 0.0023 0.0019 0.0015 0 +6 152510454 SYNE1 T C 1 . 4.624 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.969e-06 . 4 +6 152529260 SYNE1 G A 17 0.155152 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1315 synonymous_SNV exonic . 0.1341 0.1321 0.1210 -2 +6 152532702 SYNE1 T C 1 0.00459265 6.017 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0205 nonsynonymous_SNV exonic T 0.0171 0.0195 0.0139 1 +6 152534768 SYNE1 C T 3 0.0205671 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0328 synonymous_SNV exonic . 0.0271 0.0320 0.0266 -2 +6 152540278 SYNE1 A C 82 0.995607 -0.224 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.9886 nonsynonymous_SNV exonic T 0.9901 0.9878 0.9892 -2 +6 152551800 SYNE1 T G 1 . 4.901 . . . 1.5e-05 nonsynonymous_SNV exonic T . 1.795e-05 . 4 +6 152558075 SYNE1 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +6 152589223 SYNE1 T C 1 . . MedGen:CN169374 not_specified Uncertain_significance 0.0001 synonymous_SNV exonic . . 5.378e-05 0 4 +6 152590337 SYNE1 G T 1 . 5.057 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 0.0001 7 +6 152615200 SYNE1 G A 16 0.147764 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1932 synonymous_SNV exonic . 0.1917 0.1932 0.1927 -2 +6 152629631 SYNE1 C T 3 0.038139 6.154 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0080 nonsynonymous_SNV exonic T 0.0071 0.0066 0.0075 1 +6 152629631 SYNE1 C T 3 0.038139 6.154 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0080 nonsynonymous_SNV exonic T 0.0071 0.0066 0.0075 1 +6 152640110 SYNE1 G A 3 0.0463259 2.539 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0289 nonsynonymous_SNV exonic T 0.0272 0.0292 0.0336 -2 +6 152640138 SYNE1 T C 1 0.000199681 0.005 MedGen:CN169374 not_specified Uncertain_significance 4.561e-05 nonsynonymous_SNV exonic T . 2.687e-05 . 2 +6 152646279 SYNE1 G C 3 0.0623003 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0298 synonymous_SNV exonic . 0.0280 0.0305 0.0334 -2 +6 152646308 SYNE1 G C 1 . 4.278 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Uncertain_significance 0.0014 nonsynonymous_SNV exonic T 0.0007 0.0010 0.0003 0 +6 152646407 SYNE1 C T 1 0.000599042 4.570 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Likely_benign 4.496e-05 nonsynonymous_SNV exonic T . 2.686e-05 0 0 +6 152647681 SYNE1 A T 61 0.814696 1.978 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7581 nonsynonymous_SNV exonic T 0.7494 0.7562 0.7754 -2 +6 152650903 SYNE1 G A 1 0.033746 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0386 synonymous_SNV exonic . 0.0436 0.0396 0.0382 -2 +6 152651557 SYNE1 G A 1 0.000399361 4.364 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0019 0 +6 152651759 SYNE1 C G 7 0.165136 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0592 synonymous_SNV exonic . 0.0621 0.0600 0.0639 -2 +6 152652034 SYNE1 A T 61 0.803315 -5.477 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7577 nonsynonymous_SNV exonic T 0.7490 0.7561 0.7745 -2 +6 152652599 SYNE1 G A 1 0.0335463 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0388 synonymous_SNV exonic . 0.0437 0.0397 0.0385 -2 +6 152658062 SYNE1 C G 1 0.0123802 6.665 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0358 nonsynonymous_SNV exonic T 0.0326 0.0357 0.0318 1 +6 152658141 SYNE1 CT AC 5 . . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Cardiomyopathy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Conflicting_interpretations_of_pathogenicity . nonframeshift_substitution exonic . . . . 12 +6 152658142 SYNE1 T C 56 0.793131 0.371 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7478 nonsynonymous_SNV exonic T 0.7194 0.7459 0.7642 -2 +6 152660451 SYNE1 G A 11 0.0732827 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1418 synonymous_SNV exonic . 0.1315 0.1438 0.1464 -2 +6 152665261 SYNE1 C A 50 0.545527 0.235 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6031 nonsynonymous_SNV exonic T 0.6178 0.6078 0.6094 -2 +6 152668211 SYNE1 A G 1 0.00539137 6.385 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0170 nonsynonymous_SNV exonic T 0.0151 0.0161 0.0147 1 +6 152668215 SYNE1 C T 1 0.00479233 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0133 synonymous_SNV exonic . 0.0130 0.0133 0.0113 -2 +6 152668272 SYNE1 C T 4 0.00239617 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0076 synonymous_SNV exonic . 0.0080 0.0077 0.0079 4 +6 152671865 SYNE1 T G 2 0.0543131 2.231 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0189 nonsynonymous_SNV exonic T 0.0201 0.0191 0.0181 -2 +6 152675854 SYNE1 A G 48 0.568291 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6001 synonymous_SNV exonic . 0.6133 0.6049 0.6074 -2 +6 152675854 SYNE1 A G 48 0.568291 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6001 synonymous_SNV exonic . 0.6133 0.6049 0.6074 -2 +6 152679518 SYNE1 C T 1 0.0071885 3.946 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0156 nonsynonymous_SNV exonic T 0.02 0.0165 0.0131 -2 +6 152683413 SYNE1 G T 54 0.659145 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6652 synonymous_SNV exonic . 0.6806 0.6701 0.6773 -2 +6 152686137 SYNE1 T C 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.953e-06 . 4 +6 152694184 SYNE1 T C 38 0.468251 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5328 synonymous_SNV exonic . 0.5458 0.5394 0.5421 -2 +6 152708310 SYNE1 G A 20 0.249002 0.486 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2229 nonsynonymous_SNV exonic T 0.2190 0.2241 0.2138 -2 +6 152722328 SYNE1 T C 1 . 2.372 . . . 6e-05 nonsynonymous_SNV exonic T . 3.584e-05 0 4 +6 152728223 SYNE1 C T 1 0.000399361 0.563 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 4.479e-05 0.0001 2 +6 152746593 SYNE1 A T 6 0.0327476 -0.505 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0553 nonsynonymous_SNV exonic T 0.0516 0.0539 0.0622 -2 +6 152751278 SYNE1 G T 1 0.0107827 3.699 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0014 0.0009 0.0025 -2 +6 152763258 SYNE1 T C 2 0.0127796 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0227 synonymous_SNV exonic . 0.0184 0.0203 0.0275 -2 +6 152765579 SYNE1 C T 1 0.00678914 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0132 synonymous_SNV exonic . 0.0124 0.0135 0.0130 -2 +6 152771849 SYNE1 G A 7 0.048722 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 synonymous_SNV exonic . 0.0680 0.0663 0.0729 -2 +6 152771882 SYNE1 C G 1 . . . . . 1.498e-05 synonymous_SNV exonic . . 8.954e-06 . 4 +6 152772264 SYNE1 A G 36 0.607228 3.767 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4291 nonsynonymous_SNV exonic D 0.4295 0.4232 0.4198 1 +6 152777095 SYNE1 A C 7 0.0433307 0.696 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 nonsynonymous_SNV exonic T 0.0679 0.0664 0.0734 -2 +6 152779933 SYNE1 G A 4 0.0115815 4.640 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0333 nonsynonymous_SNV exonic T 0.0312 0.0339 0.0313 -2 +6 152841652 SYNE1 T C 1 . 5.700 . . . . nonsynonymous_SNV exonic D . . . 10 +6 152841658 SYNE1 C T 1 0.000199681 4.024 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 2 +6 152847284 SYNE1 A G 1 0.00279553 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0119 synonymous_SNV exonic . 0.0114 0.0112 0.0117 -2 +7 35288320 TBX20 C A 1 . 7.019 . . . 3.055e-05 nonsynonymous_SNV exonic D . 1.812e-05 . 10 +7 35293193 TBX20 A G 67 0.69389 . MedGen:C1969657,OMIM:611363|MedGen:CN230736 Atrial_septal_defect_4|Cardiovascular_phenotype Benign 0.6791 synonymous_SNV exonic . 0.6892 0.6824 0.6756 -2 +7 35293222 TBX20 T A 1 0.000599042 2.411 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 0 +7 81588636 CACNA2D1 G A 31 0.222644 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3047 synonymous_SNV exonic . 0.3153 0.3061 0.3054 -2 +7 81596952 CACNA2D1 G T 1 . 0.973 . . . . nonsynonymous_SNV exonic T . . . 4 +7 81599241 CACNA2D1 C G 1 . 2.877 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Cardiac_arrest|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 nonsynonymous_SNV exonic T 0.0010 0.0007 0.0005 0 +7 81641500 CACNA2D1 G A 2 0.00319489 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0122 synonymous_SNV exonic . 0.0083 0.0109 0.0135 -2 +7 81643728 CACNA2D1 C T 1 . 6.720 . . . . nonsynonymous_SNV exonic D . . . 10 +7 81667468 CACNA2D1 C T 2 0.019369 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0502 synonymous_SNV exonic . 0.0448 0.0474 0.0631 -2 +7 91630620 AKAP9 G T 30 0.372204 -0.375 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Colorectal_cancer|Cardiovascular_phenotype Benign/Likely_benign 0.4004 nonsynonymous_SNV exonic T 0.4030 0.3908 0.3782 -2 +7 91631873 AKAP9 G T 1 . 3.047 . . . . nonsynonymous_SNV exonic T . . . 4 +7 91632306 AKAP9 C T 71 0.935903 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.8650 synonymous_SNV exonic . 0.8727 0.8638 0.8471 -2 +7 91632519 AKAP9 G A 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +7 91641928 AKAP9 A G 29 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4006 synonymous_SNV exonic . 0.4031 0.3908 0.3779 -2 +7 91652178 AKAP9 A AC,AAAC 29 0.42472 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4010 nonframeshift_insertion exonic . 0.4031 0.3893 0.3761 -2 +7 91682040 AKAP9 T G 1 0.000798722 0.241 EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Sudden_cardiac_death|Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic T 0.0009 0.0008 0.0011 0 +7 91691601 AKAP9 C T 28 0.359824 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4002 synonymous_SNV exonic . 0.4031 0.3906 0.3776 -2 +7 91694743 AKAP9 A G 1 0.000199681 6.436 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0011 3 +7 91695779 AKAP9 C T 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0014 synonymous_SNV exonic . 0.0022 0.0018 0.0016 0 +7 91708898 AKAP9 A G 13 0.0654952 -1.816 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1364 nonsynonymous_SNV exonic T 0.1273 0.1370 0.1533 -2 +7 91712698 AKAP9 A G 30 0.295927 -0.076 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3992 nonsynonymous_SNV exonic T 0.4013 0.3899 0.3764 -2 +7 91713972 AKAP9 C T 24 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4000 synonymous_SNV exonic . 0.4027 0.3900 0.3782 -2 +7 91714911 AKAP9 C T 84 0.998802 -0.130 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.9963 nonsynonymous_SNV exonic T 0.9962 0.9963 0.9942 -2 +7 91715662 AKAP9 C T 30 0.295727 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3990 synonymous_SNV exonic . 0.4013 0.3898 0.3766 -2 +7 91726288 AKAP9 T G 1 . -1.904 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.96e-06 . 4 +7 91726416 AKAP9 A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +7 91726927 AKAP9 A C 30 0.377396 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4001 synonymous_SNV exonic . 0.4036 0.3909 0.3776 -2 +7 91727479 AKAP9 A T 1 0.000599042 6.273 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0014 nonsynonymous_SNV exonic T 0.0013 0.0015 0.0012 3 +7 91729127 AKAP9 A G 1 0.00678914 1.252 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0099 nonsynonymous_SNV exonic T 0.0088 0.0104 0.0093 -2 +7 91732083 AKAP9 G A 1 0.00159744 2.838 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0021 nonsynonymous_SNV exonic T 0.0021 0.0022 0.0019 0 +7 91736680 AKAP9 G A 1 . . . . . 4.497e-05 synonymous_SNV exonic . . 4.478e-05 . 4 +7 92077203 GATAD1 G A 2 0.0816693 -0.493 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign 0.2308 nonsynonymous_SNV exonic T . 0.2080 0.1293 -2 +7 92085763 GATAD1 C T 3 0.00698882 7.208 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign 0.0164 nonsynonymous_SNV exonic T 0.0155 0.0172 0.0138 1 +7 128470838 FLNC C T 11 0.110024 . MedGen:CN169374 not_specified Benign 0.0860 synonymous_SNV exonic . 0.0851 0.0856 0.0929 -2 +7 128477472 FLNC T C 13 0.121805 . MedGen:CN169374 not_specified Benign 0.1113 synonymous_SNV exonic . 0.1110 0.1118 0.1201 -2 +7 128477547 FLNC T C 13 0.121006 . MedGen:CN169374 not_specified Benign 0.1112 synonymous_SNV exonic . 0.1108 0.1116 0.1200 -2 +7 128477558 FLNC G A 1 . 5.233 . . . . nonsynonymous_SNV exonic D . . . 10 +7 128478103 FLNC C T 5 0.196486 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0409 0.0410 0.0397 -2 +7 128478820 FLNC C T 1 0.0189696 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 4.602e-05 synonymous_SNV exonic . . 4.535e-05 6.691e-05 -10 +7 128480123 FLNC C A 2 0.196086 . MedGen:CN169374 not_specified Benign 0.0205 synonymous_SNV exonic . 0.0179 0.0181 0.0192 -2 +7 128480666 FLNC C T 1 0.0159744 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0395 synonymous_SNV exonic . 0.0347 0.0386 0.0442 -10 +7 128481312 FLNC G A 2 0.00159744 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0064 synonymous_SNV exonic . 0.0054 0.0066 0.0068 -8 +7 128482959 FLNC C T 1 0.0239617 3.931 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0012 nonsynonymous_SNV exonic D 0.0015 0.0012 0.0012 -7 +7 128483926 FLNC C T 1 . 3.369 . . . . nonsynonymous_SNV exonic D . 8.954e-06 . 7 +7 128484816 FLNC A G 20 0.379992 . MedGen:CN169374 not_specified Benign 0.1635 synonymous_SNV exonic . 0.1648 0.1643 0.1724 -2 +7 128485240 FLNC C T 3 0.00199681 5.769 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0092 nonsynonymous_SNV exonic D 0.0095 0.0093 0.0117 2 +7 128486052 FLNC C T 1 . 8.168 . . . 3.058e-05 nonsynonymous_SNV exonic D 0.0001 8.992e-06 . 10 +7 128486091 FLNC C T 1 0.0197684 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0398 synonymous_SNV exonic . 0.0345 0.0386 0.0448 -10 +7 128486363 FLNC C T 17 0.346046 . MedGen:CN169374 not_specified Benign 0.1711 synonymous_SNV exonic . 0.1622 0.1667 0.1717 -2 +7 128486446 FLNC C T 5 0.160543 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0401 0.0409 0.0396 -2 +7 128487866 FLNC T C 84 0.990615 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 1 0.9999 0.9999 -2 +7 128487893 FLNC G A 6 0.257788 . MedGen:CN169374 not_specified Benign 0.0446 synonymous_SNV exonic . 0.0433 0.0439 0.0428 -2 +7 128488734 FLNC G A 10 0.0625 4.924 MedGen:CN169374 not_specified Benign 0.0879 nonsynonymous_SNV exonic T 0.0850 0.0866 0.0886 -2 +7 128491324 FLNC C T 1 0.00219649 7.479 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0083 nonsynonymous_SNV exonic T 0.0062 0.0084 0.0068 -5 +7 128491603 FLNC T C 7 0.288938 . MedGen:CN169374 not_specified Benign 0.0448 synonymous_SNV exonic . 0.0448 0.0443 0.0431 -2 +7 128493866 FLNC C T 1 0.0241613 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0012 synonymous_SNV exonic . 0.0015 0.0012 0.0011 -10 +7 128494547 FLNC G A 1 0.000199681 4.209 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0014 nonsynonymous_SNV exonic T 0.0009 0.0011 0.0014 4 +7 128494603 FLNC C T 1 . . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant Likely_benign 6.227e-05 synonymous_SNV exonic . . 7.688e-05 6.668e-05 0 +7 128495338 FLNC C T 6 0.258786 . MedGen:CN169374 not_specified Benign 0.0445 synonymous_SNV exonic . 0.0436 0.0439 0.0426 -2 +7 150644756 KCNH2 G A 1 . 1.912 MedGen:CN517202 not_provided not_provided 5.055e-05 nonsynonymous_SNV exonic D 0.0001 4.909e-05 . 7 +7 150645534 KCNH2 T G 20 0.136182 2.039 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.2348 nonsynonymous_SNV exonic T 0.2326 0.2359 0.2577 -2 +7 150646928 KCNH2 G A 1 0.0261581 . . . . . . UTR3 . . . 0.0006 -2 +7 150648198 KCNH2 A G 55 0.772165 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.5994 synonymous_SNV exonic . 0.5898 0.6023 0.6004 -2 +7 150648789 KCNH2 T C 31 0.608427 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3756 synonymous_SNV exonic . 0.3601 0.3725 0.3836 -2 +7 150648918 KCNH2 G A 1 0.00159744 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0016 synonymous_SNV exonic . 0.0010 0.0012 0.0007 0 +7 150649531 KCNH2 G A 19 0.341653 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2218 synonymous_SNV exonic . 0.2133 0.2141 0.2223 -2 +7 150649603 KCNH2 G A 19 0.342652 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2213 synonymous_SNV exonic . 0.2135 0.2152 0.2231 -2 +7 151254443 PRKAG2 G A 3 0.0131789 . . . . . . intronic . . . 0.0429 -2 +7 151254445 PRKAG2 T C 57 0.540136 . . . . . . intronic . . . 0.6433 -2 +7 151257695 PRKAG2 C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247 Cardiomyopathy|Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Conflicting_interpretations_of_pathogenicity 0.0050 synonymous_SNV exonic . 0.005 0.0056 0.0047 0 +7 151372549 PRKAG2 C T 1 . 0.501 . . . 1.507e-05 nonsynonymous_SNV exonic T . 8.961e-06 . 4 +8 11565926 GATA4 G T 1 . 1.188 . . . . synonymous_SNV exonic T . . . 4 +8 11614575 GATA4 A G 10 0.0429313 0.793 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1354 nonsynonymous_SNV exonic T 0.14 0.1309 0.1595 -2 +8 74888616 TMEM70 G C 11 0.176118 2.230 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1674 nonsynonymous_SNV exonic T 0.1301 0.1316 0.1276 -2 +8 74893419 TMEM70 C G 8 0.0227636 -2.907 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign/Likely_benign 0.0202 nonsynonymous_SNV exonic T 0.0177 0.0193 0.0219 -2 +8 74893452 TMEM70 A G 1 0.0289537 -1.768 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign/Likely_benign 0.0006 nonsynonymous_SNV exonic T 0.0007 0.0002 0 -2 +8 74893653 TMEM70 G A 4 0.0071885 0.759 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified Benign 0.0170 nonsynonymous_SNV exonic T 0.0156 0.0154 0.0173 -2 +8 74893821 TMEM70 A G 13 0.258986 -3.329 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1603 nonsynonymous_SNV exonic T 0.1556 0.1522 0.1506 -2 +8 74893850 TMEM70 C G 12 0.258986 -1.736 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1605 nonsynonymous_SNV exonic T 0.1556 0.1516 0.1506 -2 +9 71650752 FXN A G 82 0.984824 . MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736 Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype Benign 1 synonymous_SNV exonic . . 0.9998 0.9999 -2 +9 103348208 MURC A T 4 0.117812 . MedGen:CN169374 not_specified Benign 0.0238 synonymous_SNV exonic . 0.0236 0.0238 0.0218 -2 +9 103348634 MURC G A 27 0.293331 . MedGen:CN169374 not_specified Benign 0.4040 synonymous_SNV exonic . 0.4166 0.4052 0.4264 -2 +9 108366499 FKTN G A 4 0.0371406 1.784 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0106 nonsynonymous_SNV exonic T 0.0114 0.0110 0.0108 -2 +9 108366734 FKTN G A 18 0.158147 3.672 MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3053 nonsynonymous_SNV exonic T 0.3190 0.3085 0.3229 -6 +9 108380355 FKTN C A 18 0.178315 . MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3058 synonymous_SNV exonic . 0.3177 0.3079 0.3218 -6 +9 108397495 FKTN A G 1 0.00519169 4.689 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0135 nonsynonymous_SNV exonic T 0.0124 0.0127 0.0118 -2 +9 108397495 FKTN A G 1 0.00519169 4.689 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0135 nonsynonymous_SNV exonic T 0.0124 0.0127 0.0118 -2 +10 18789825 CACNB2 A C 1 . 3.614 . . . . nonsynonymous_SNV exonic D . . . 7 +10 18828371 CACNB2 C T 15 0.23722 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1593 synonymous_SNV exonic . 0.1615 0.1600 0.1784 -2 +10 18828486 CACNB2 C G 1 0.00439297 4.555 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0145 nonsynonymous_SNV exonic D 0.0170 0.0160 0.0161 1 +10 18828635 CACNB2 T G 23 0.0970447 2.791 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1826 nonsynonymous_SNV exonic T 0.1729 0.1809 0.1766 -2 +10 21074724 NEBL T C 6 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV exonic . 0.0762 0.0734 0.0776 -2 +10 21074724 NEBL T C 6 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV exonic . 0.0762 0.0734 0.0776 -2 +10 21097527 NEBL T C 1 0.000199681 . MedGen:CN169374 not_specified Uncertain_significance 0.0006 synonymous_SNV exonic . 0.0002 0.0002 0.0001 0 +10 21108377 NEBL C T 20 0.183706 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2958 synonymous_SNV exonic . 0.2952 0.2986 0.3057 -2 +10 21112137 NEBL A T 1 0.124601 2.904 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0231 nonsynonymous_SNV exonic T 0.0224 0.0216 0.0187 -2 +10 21124544 NEBL G A 1 . . . . . 0 synonymous_SNV exonic . . 5.387e-05 . 4 +10 21134282 NEBL C G 8 0.0385383 5.403 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0832 nonsynonymous_SNV exonic T 0.0828 0.0808 0.0742 1 +10 21139389 NEBL T C 12 0.038738 1.032 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0833 nonsynonymous_SNV exonic T 0.0834 0.0811 0.0743 -2 +10 21157673 NEBL C T 1 0.00139776 2.566 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0031 nonsynonymous_SNV exonic T 0.0022 0.0029 0.0023 4 +10 21186218 NEBL G A 1 0.000599042 . . . . . . UTR5 . . . 0.0027 0 +10 67829103 CTNNA3 T C 1 . 3.375 . . . 2.998e-05 nonsynonymous_SNV exonic T 0.0001 8.991e-06 . 4 +10 68040240 CTNNA3 G T 4 0.0690895 . MedGen:C3810138,OMIM:615616|MedGen:CN169374 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified Benign 0.0210 synonymous_SNV exonic . 0.0205 0.0181 0.0161 -2 +10 68040325 CTNNA3 C T 36 0.485024 0.202 . . . 0.3747 nonsynonymous_SNV exonic T 0.3621 0.3655 0.3892 -2 +10 69281701 CTNNA3 A T 3 0.0113818 2.461 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0252 nonsynonymous_SNV exonic T 0.0253 0.0247 0.0270 -2 +10 69299343 CTNNA3 C T 1 . 7.336 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 3.01e-05 nonsynonymous_SNV exonic T . 1.801e-05 . 7 +10 69299372 CTNNA3 T G 2 0.0147764 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0183 synonymous_SNV exonic . 0.0226 0.0199 0.0176 -2 +10 69881335 MYPN C T 1 . 0.571 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 2 +10 69908157 MYPN T C 3 0.120607 0.535 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0155 nonsynonymous_SNV exonic T 0.0147 0.0160 0.0178 -10 +10 69908205 MYPN G A 1 0.000399361 1.661 MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 1.792e-05 . 2 +10 69909802 MYPN G A 5 0.0842652 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.0880 synonymous_SNV exonic . 0.0826 0.0854 0.0795 -2 +10 69926097 MYPN T C 58 0.482628 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.6868 synonymous_SNV exonic . 0.6960 0.6904 0.7102 -2 +10 69926319 MYPN C A 11 0.116613 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1679 synonymous_SNV exonic . 0.1735 0.1614 0.1621 -2 +10 69926325 MYPN C T 16 0.157748 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1823 synonymous_SNV exonic . 0.1866 0.1760 0.1790 -2 +10 69926334 MYPN C G 42 0.316494 0.756 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5038 nonsynonymous_SNV exonic T 0.5095 0.5137 0.5306 -2 +10 69926360 MYPN C T 1 . 1.044 . . . . nonsynonymous_SNV exonic T . 8.961e-06 . 4 +10 69933921 MYPN G A 40 0.335863 0.657 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4801 nonsynonymous_SNV exonic T 0.48 0.4878 0.5016 -2 +10 69933969 MYPN G A 40 0.32508 1.882 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4795 nonsynonymous_SNV exonic T 0.4798 0.4873 0.5011 -2 +10 69934012 MYPN C A 4 0.0429313 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0144 synonymous_SNV exonic . 0.0123 0.0143 0.0164 -10 +10 69934258 MYPN C G 41 0.471446 2.029 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5520 nonsynonymous_SNV exonic T 0.5509 0.5577 0.5682 -2 +10 69934259 MYPN G A 2 0.0103834 2.875 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0278 nonsynonymous_SNV exonic T 0.035 0.0292 0.0245 -10 +10 69948844 MYPN T C 83 0.984625 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.9997 synonymous_SNV exonic . 0.9994 0.9999 0.9998 -2 +10 69959242 MYPN C A 37 0.340256 6.536 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.4806 nonsynonymous_SNV exonic T 0.4786 0.4879 0.5020 -7 +10 69959262 MYPN A G 1 . . . . . 5.994e-05 synonymous_SNV exonic . . 3.582e-05 . 4 +10 75802897 VCL A G 1 . . MedGen:C1969639,OMIM:611407|MedGen:CN169374 Dilated_cardiomyopathy_1W|not_specified Likely_benign 3.002e-05 synonymous_SNV exonic . . 4.479e-05 . 0 +10 75830527 VCL G A 1 0.0716853 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0020 0.0009 0.0010 -6 +10 75834646 VCL T C 1 0.072484 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0020 0.0009 0.0011 -6 +10 75849921 VCL T C 1 0.00199681 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign 0.0062 synonymous_SNV exonic . 0.0056 0.0062 0.0047 -8 +10 75854083 VCL C T 1 0.0696885 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0060 synonymous_SNV exonic . 0.0062 0.0052 0.0037 -6 +10 75854182 VCL G A 1 0.0694888 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0062 0.0051 0.0037 -6 +10 75855541 VCL C T 1 0.00319489 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0028 synonymous_SNV exonic . 0.0015 0.0022 0.0022 4 +10 75860740 VCL A G 1 0.000399361 4.266 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0013 0.0014 0.0013 4 +10 75865065 VCL G A 45 0.324681 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5852 synonymous_SNV exonic . 0.5895 0.5798 0.5824 -6 +10 75871735 VCL C G 64 0.623003 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7428 synonymous_SNV exonic . 0.7521 0.7412 0.7447 -6 +10 88446830 LDB3 G A 2 0.00778754 3.591 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0043 nonsynonymous_SNV exonic T 0.0040 0.0040 0.0029 4 +10 88446985 LDB3 T C 2 0.0567093 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0361 synonymous_SNV exonic . 0.0407 0.0360 0.0414 -6 +10 88466465 LDB3 C T 1 0.0201677 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign 0.0489 synonymous_SNV exonic . 0.0369 0.0442 0.0477 -2 +10 88476505 LDB3 C T 1 . . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Likely_benign 0.0012 synonymous_SNV exonic . 0.0007 0.0009 0.0051 0 +10 101483827 COX15 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +10 112404302 RBM20 G A 16 0.222244 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1372 synonymous_SNV exonic . . 0.1492 0.1394 -6 +10 112540884 RBM20 C A 1 0.0269569 0.554 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0001 nonsynonymous_SNV exonic T . 0.0003 0.0002 -6 +10 112572458 RBM20 G C 84 0.991014 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 nonsynonymous_SNV exonic . 0.9994 0.9997 0.9997 -6 +10 112579854 RBM20 A G 1 . -2.871 . . . . nonsynonymous_SNV exonic T . . . 4 +10 112583301 RBM20 A G 1 . 6.810 . . . . nonsynonymous_SNV exonic T . . . 7 +10 112595719 RBM20 G C 75 0.697085 5.504 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8681 nonsynonymous_SNV exonic T 0.8724 0.8665 0.8760 -3 +10 121429633 BAG3 T C 12 0.0964457 4.176 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.2214 nonsynonymous_SNV exonic T 0.2073 0.2177 0.2062 -10 +10 121436068 BAG3 T G 6 0.155751 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0846 synonymous_SNV exonic . 0.0881 0.0861 0.0958 -10 +10 121436286 BAG3 C T 6 0.155551 3.244 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0844 nonsynonymous_SNV exonic T 0.0877 0.0860 0.0960 -10 +10 121436362 BAG3 A G 62 0.70647 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.7819 synonymous_SNV exonic . 0.7792 0.7841 0.7798 -10 +11 532611 HRAS G A 1 . . MedGen:CN169374 not_specified Benign 0.0001 . UTR3 . . 6.698e-05 0 4 +11 532729 HRAS C T 1 0.000599042 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Costello_syndrome|Rasopathy|not_specified Benign 0.0021 synonymous_SNV exonic . 0.0038 0.0026 0.0029 0 +11 533813 HRAS C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +11 534242 HRAS A G 34 0.297125 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign 0.3297 synonymous_SNV exonic . 0.3441 0.3384 0.3542 -2 +11 2594153 KCNQ1 C T 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign 7.615e-05 synonymous_SNV exonic . . 8.983e-05 6.67e-05 4 +11 2683290 KCNQ1 C T 1 . 2.016 . . . . nonsynonymous_SNV exonic D . . . 7 +11 2797237 KCNQ1 G A 9 0.180911 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.2836 synonymous_SNV exonic . 0.1932 0.1866 0.2029 -2 +11 2869002 KCNQ1 G A 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0009 0.0006 0.0004 0 +11 2869188 KCNQ1 C T 15 0.0832668 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.3658 synonymous_SNV exonic . 0.2328 0.2550 0.2676 -2 +11 6629665 ILK C T 16 0.314696 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2634 synonymous_SNV exonic . 0.25 0.2605 0.2609 -2 +11 6630542 ILK C T 2 0.000998403 7.261 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_familial_hypertrophic_cardiomyopathy|not_specified Likely_benign 0.0009 nonsynonymous_SNV exonic D 0.0014 0.0011 0.0015 6 +11 6630833 ILK G A 17 0.347444 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2642 synonymous_SNV exonic . 0.2514 0.2615 0.2613 -2 +11 6631016 ILK C T 16 0.160144 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2594 synonymous_SNV exonic . 0.2647 0.2581 0.2689 -2 +11 19207841 CSRP3 C T 12 0.0427316 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1124 synonymous_SNV exonic . 0.1073 0.1089 0.0981 -6 +11 47353738 MYBPC3 C T 1 0.00159744 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 3.002e-05 synonymous_SNV exonic . 0.0001 1.791e-05 0 4 +11 47354787 MYBPC3 C T 12 0.476238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3910 synonymous_SNV exonic . 0.3039 0.3187 0.3157 -6 +11 47358997 MYBPC3 G A 4 0.048123 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0385 synonymous_SNV exonic . 0.0351 0.0385 0.0411 -6 +11 47362702 MYBPC3 C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +11 47362702 MYBPC3 C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +11 47364187 MYBPC3 C T 1 0.000199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . 0.0001 0.0003 0.0003 2 +11 47367871 MYBPC3 C T 1 0.000798722 4.274 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0078 nonsynonymous_SNV exonic T 0.0038 0.0056 0.0093 -4 +11 47369443 MYBPC3 G A 4 0.0611022 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2120 synonymous_SNV exonic . 0.1184 0.1256 0.1173 -6 +11 47370041 MYBPC3 T C 4 0.0670927 0.243 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1393 nonsynonymous_SNV exonic T 0.1263 0.1305 0.1209 -6 +11 47371442 MYBPC3 G A 1 0.0249601 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0501 synonymous_SNV exonic . 0.0463 0.0478 0.0470 -6 +11 47371578 MYBPC3 G A 3 0.00838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0487 synonymous_SNV exonic . 0.0307 0.0318 0.0302 -6 +11 47371598 MYBPC3 C T 10 0.0329473 4.662 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1402 nonsynonymous_SNV exonic T 0.0864 0.0933 0.1009 -6 +11 74168411 KCNE3 A G 9 0.141174 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1151 synonymous_SNV exonic . 0.1084 0.1106 0.1314 -2 +11 74168493 KCNE3 G C 1 0.000199681 0.965 . . . 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0001 2 +11 111782284 CRYAB C T 1 0.0091853 . Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign 0.0232 synonymous_SNV exonic . 0.0226 0.0206 0.0210 -10 +11 118011998 SCN4B C G 1 . 0.800 . . . 2.998e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 7 +11 118015832 SCN4B G A 3 0.0349441 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0398 synonymous_SNV exonic . 0.0374 0.0392 0.0372 -2 +11 123513161 SCN3B G A 6 0.0820687 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0915 synonymous_SNV exonic . 0.0896 0.0880 0.0882 -2 +11 128781339 KCNJ5 T C 73 0.869808 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8296 synonymous_SNV exonic . 0.8250 0.8274 0.8249 -2 +11 128781978 KCNJ5 T G 73 0.866214 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8277 synonymous_SNV exonic . 0.8216 0.8250 0.8212 -2 +11 128782002 KCNJ5 T C 73 0.867013 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8276 synonymous_SNV exonic . 0.8216 0.8248 0.8211 -2 +11 128782012 KCNJ5 C G 81 0.995008 0.157 MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.9791 nonsynonymous_SNV exonic T 0.9820 0.9792 0.9776 -2 +12 2224422 CACNA1C G A 1 . 3.174 . . . 9.206e-05 nonsynonymous_SNV exonic D 0.0001 4.207e-05 6.667e-05 7 +12 2224511 CACNA1C C T 1 0.0117812 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0383 synonymous_SNV exonic . 0.0235 0.0265 0.0218 -2 +12 2558186 CACNA1C G A 14 0.120407 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.2489 synonymous_SNV exonic . 0.2146 0.2094 0.2123 -2 +12 2694638 CACNA1C C T 10 0.145567 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1305 synonymous_SNV exonic . 0.0786 0.0851 0.0765 -2 +12 2721131 CACNA1C C A 2 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0029 0.0021 0.0015 0 +12 2721137 CACNA1C C T 23 0.259185 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1852 synonymous_SNV exonic . . 0.1838 0.1901 -2 +12 2760898 CACNA1C C T 7 0.023762 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0683 synonymous_SNV exonic . 0.0673 0.0672 0.0676 -2 +12 2760898 CACNA1C C T 7 0.023762 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0683 synonymous_SNV exonic . 0.0673 0.0672 0.0676 -2 +12 2788615 CACNA1C C T 2 0.00299521 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0261 synonymous_SNV exonic . 0.0072 0.0094 0.0130 -2 +12 2788732 CACNA1C C A 1 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0020 0.0019 0.0017 0 +12 2788810 CACNA1C C T 3 0.019369 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0675 synonymous_SNV exonic . 0.0613 0.0646 0.0690 -2 +12 2788879 CACNA1C G A 47 0.526358 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.7349 synonymous_SNV exonic . 0.7295 0.7229 0.7396 -2 +12 2791130 CACNA1C C T 65 0.669129 0.086 MedGen:CN169374 not_specified Benign 0.8109 nonsynonymous_SNV exonic T 0.8213 0.8133 0.8199 -2 +12 2791132 CACNA1C A G 66 0.770567 0.106 MedGen:CN169374 not_specified Benign 0.8198 nonsynonymous_SNV exonic T 0.8310 0.8219 0.8270 -2 +12 2791205 CACNA1C A G 84 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . 1 1 1 -2 +12 2800220 CACNA1C A G 1 0.000199681 1.910 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0006 0.0007 0.0006 0 +12 5153455 KCNA5 G A 1 . 2.438 . . . . nonsynonymous_SNV exonic D . 0 . 7 +12 5153573 KCNA5 G A 1 0.000199681 -0.949 . . . 0.0010 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0005 0 +12 5153694 KCNA5 C T 2 0.0147764 . MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Benign/Likely_benign 0.0390 synonymous_SNV exonic . 0.0411 0.0403 0.0411 -2 +12 5154232 KCNA5 C T 2 0.00139776 -2.109 MedGen:C2677106,OMIM:612240|MedGen:CN231063 Atrial_fibrillation,_familial,_7|altered_potassium_channel_function Conflicting_interpretations_of_pathogenicity 0.0031 nonsynonymous_SNV exonic D 0.0028 0.0040 0.0035 3 +12 5154462 KCNA5 T C 84 0.98103 . MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.9999 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2 +12 21918667 KCNJ8 G A 1 0.000199681 2.046 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0025 nonsynonymous_SNV exonic T 0.0022 0.0008 0.0005 0 +12 21919425 KCNJ8 G A 1 0.000399361 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0006 0.0011 0.0010 0 +12 22040784 ABCC9 C A 1 0.000399361 2.197 MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0010 0.0004 0.0005 4 +12 22063115 ABCC9 A G 84 0.997204 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 1.0000 synonymous_SNV exonic . 1 1 1 -6 +12 25362762 KRAS TTTC T 1 . . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign 0.0008 nonframeshift_deletion exonic . . 0.0010 0.0009 0 +12 25362777 KRAS A G 17 0.175519 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign 0.2216 synonymous_SNV exonic . 0.2160 0.2223 0.2119 -2 +12 25368462 KRAS C T 84 0.997604 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 1 synonymous_SNV exonic . 1 1 1 -2 +12 32949088 PKP2 T C 1 . 0.895 . . . . nonsynonymous_SNV exonic T . . . 4 +12 32949184 PKP2 G A 1 . 4.104 . . . 1.5e-05 nonsynonymous_SNV exonic T . 0 6.737e-05 4 +12 32977026 PKP2 C T 1 0.000599042 5.403 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0038 nonsynonymous_SNV exonic T 0.0047 0.0035 0.0033 3 +12 32994073 PKP2 G A 1 0.00379393 0.934 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0025 nonsynonymous_SNV exonic T 0.0023 0.0027 0.0016 0 +12 32996181 PKP2 CTGGGA C 1 . . MedGen:CN517202 not_provided Likely_pathogenic 3.247e-05 frameshift_deletion exonic . . 1.851e-05 6.662e-05 4 +12 33021934 PKP2 A G 16 0.151358 0.112 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2099 nonsynonymous_SNV exonic T 0.2301 0.2200 0.2192 -2 +12 33031023 PKP2 G A 1 0.0115815 0.514 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 9.006e-05 nonsynonymous_SNV exonic T . 0.0001 0 -2 +12 33031309 PKP2 T C 1 0.000199681 0.338 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0013 0 +12 33049457 PKP2 C A 4 0.0131789 3.446 MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0289 nonsynonymous_SNV exonic T 0.0261 0.0260 0.0297 -2 +12 98926856 TMPO G A 2 0.00179712 -0.439 MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Likely_benign 0.0030 nonsynonymous_SNV exonic T 0.0041 0.0039 0.0033 0 +12 98927523 TMPO A G 1 . . MedGen:CN169374 not_specified Likely_benign 7.495e-05 synonymous_SNV exonic . 0.0001 6.276e-05 . 4 +12 98927830 TMPO C G 14 0.0589058 1.914 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0989 nonsynonymous_SNV exonic T 0.0965 0.0986 0.0957 -6 +12 98928161 TMPO TA T 1 0.000998403 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0050 . UTR3 . 0.0037 0.0046 0.0044 0 +12 111353556 MYL2 A G 7 0.115216 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0848 synonymous_SNV exonic . 0.0801 0.0873 0.0908 -2 +12 112888247 PTPN11 TAAAAG T 1 . . . . . . frameshift_deletion exonic . . . . 4 +12 112926885 PTPN11 C A 2 . 13.471 . . . . stopgain exonic . . . . 12 +12 114837349 TBX5 C A 1 0.00219649 7.484 MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:C3542024,OMIM:614823|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Holt-Oram_syndrome|Aortic_valve_disease_2|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0049 nonsynonymous_SNV exonic D 0.0049 0.0049 0.0046 2 +14 23852497 MYH6 T C 1 0.0848642 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0035 synonymous_SNV exonic . 0.0069 0.0041 0.0046 -6 +14 23854155 MYH6 G A 5 0.0363419 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1066 synonymous_SNV exonic . 0.1158 0.1089 0.1111 -6 +14 23855320 MYH6 G A 5 0.0365415 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1067 synonymous_SNV exonic . 0.1159 0.1090 0.1111 -6 +14 23855569 MYH6 A G 36 0.492812 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4821 synonymous_SNV exonic . 0.4855 0.4772 0.4524 -6 +14 23855645 MYH6 A G 1 0.048722 1.714 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0031 nonsynonymous_SNV exonic T 0.0019 0.0031 0.0045 -6 +14 23858232 MYH6 C T 7 0.0347444 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1103 synonymous_SNV exonic . 0.1172 0.1116 0.1166 -6 +14 23859610 MYH6 C T 5 0.0728834 5.149 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1217 nonsynonymous_SNV exonic T . 0.1183 0.1101 -3 +14 23859611 MYH6 G A 1 . . . . . 1.704e-05 synonymous_SNV exonic . . 1.834e-05 . 4 +14 23861811 MYH6 A G 34 0.3748 0.873 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3635 nonsynonymous_SNV exonic T 0.3737 0.3631 0.3678 -6 +14 23862646 MYH6 C A 1 0.000599042 3.364 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001645,MedGen:C1968862|MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2750466,OMIM:613252|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Sudden_cardiac_death|Wolff-Parkinson-White_pattern|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1EE|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic T 0.0013 0.0013 0.0022 4 +14 23866189 MYH6 G A 1 0.0339457 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0146 synonymous_SNV exonic . 0.0127 0.0124 0.0097 -6 +14 23869993 MYH6 G A 6 0.0321486 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0668 synonymous_SNV exonic . 0.0620 0.0639 0.0547 -6 +14 23871909 MYH6 G A 1 0.0423323 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0102 synonymous_SNV exonic . 0.0087 0.0092 0.0061 -6 +14 23873940 MYH6 C T 1 0.00199681 3.478 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0082 nonsynonymous_SNV exonic T 0.0069 0.0080 0.0058 0 +14 23874507 MYH6 G T 12 0.0776757 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1055 synonymous_SNV exonic . 0.1095 0.1041 0.0996 -6 +14 23874523 MYH6 C T 21 0.154353 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2607 synonymous_SNV exonic . 0.2608 0.2581 0.2614 -6 +14 23874541 MYH6 C T 6 0.0571086 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0824 synonymous_SNV exonic . 0.0884 0.0829 0.0862 -6 +14 23876267 MYH6 C T 6 0.0567093 5.156 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0824 nonsynonymous_SNV exonic T 0.0883 0.0829 0.0860 -3 +14 23883028 MYH7 C T 1 . . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569 Hypertrophic_cardiomyopathy Likely_benign 4.495e-05 synonymous_SNV exonic . . 4.476e-05 6.67e-05 4 +14 23884433 MYH7 G A 1 . 5.169 . . . . nonsynonymous_SNV exonic D . . . 10 +14 23884889 MYH7 C T 9 0.117612 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1175 synonymous_SNV exonic . 0.1317 0.1224 0.1213 -10 +14 23885010 MYH7 C T 1 . 2.620 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Uncertain_significance 5.996e-05 nonsynonymous_SNV exonic T . 7.164e-05 0 4 +14 23885378 MYH7 C T 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign 8.99e-05 synonymous_SNV exonic . 0.0002 7.161e-05 6.672e-05 0 +14 23886409 MYH7 G C 2 0.00519169 3.122 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0105 nonsynonymous_SNV exonic T 0.0115 0.0127 0.0111 -10 +14 23886429 MYH7 G A 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign 0 synonymous_SNV exonic . 0.0002 0 6.676e-05 0 +14 23890202 MYH7 C T 1 . 3.269 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Uncertain_significance 8.992e-05 nonsynonymous_SNV exonic T 0.0001 8.956e-05 . 4 +14 23892888 MYH7 A G 23 0.376398 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.3270 synonymous_SNV exonic . 0.3288 0.3225 0.3257 -10 +14 23896915 MYH7 G A 1 0.0129792 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 8.99e-05 synonymous_SNV exonic . . 0.0001 0.0002 -10 +14 23898504 MYH7 C T 1 0.000199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 0.0003 6.67e-05 6 +14 23898994 MYH7 G A 6 0.15615 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0794 synonymous_SNV exonic . 0.0867 0.0801 0.0785 -10 +14 23899027 MYH7 C T 9 0.0796725 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1567 synonymous_SNV exonic . 0.1513 0.1551 0.1635 -10 +14 23899060 MYH7 G A 6 0.0638978 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0779 synonymous_SNV exonic . 0.0795 0.0767 0.0738 -10 +14 23899793 MYH7 G A 7 0.0145767 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0292 synonymous_SNV exonic . 0.0290 0.0281 0.0232 -10 +14 23900794 MYH7 G A 14 0.263778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1618 synonymous_SNV exonic . 0.1680 0.1604 0.1547 -10 +14 23900794 MYH7 G A 14 0.263778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1618 synonymous_SNV exonic . 0.1680 0.1604 0.1547 -10 +14 23901012 MYH7 T C 2 0.00579073 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0152 synonymous_SNV exonic . 0.0147 0.0157 0.0127 -10 +14 23902753 MYH7 G A 36 0.520367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.4780 synonymous_SNV exonic . 0.4841 0.4796 0.4778 -10 +14 73637618 PSEN1 GGAA G 1 . . . . . . nonframeshift_deletion exonic . . . . 4 +15 48720652 FBN1 C T 2 0.0509185 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0149 synonymous_SNV exonic . 0.0172 0.0155 0.0137 -2 +15 48722884 FBN1 A G 2 0.0511182 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0149 synonymous_SNV exonic . 0.0172 0.0155 0.0137 -2 +15 48726813 FBN1 G A 1 0.00199681 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0047 synonymous_SNV exonic . 0.0073 0.0056 0.0055 0 +15 48748913 FBN1 C T 1 0.00259585 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0071 synonymous_SNV exonic . 0.0086 0.0078 0.0097 0 +15 48757802 FBN1 G C 1 0.00199681 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0047 synonymous_SNV exonic . 0.0073 0.0056 0.0054 0 +15 48779530 FBN1 G C 1 0.0597045 3.171 .|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 FNB1_POLYMORPHISM|Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0014 nonsynonymous_SNV exonic T 0.0009 0.0013 0.0016 -2 +15 48796105 FBN1 T A 1 0.000399361 . . . . 1.498e-05 synonymous_SNV exonic . . 8.955e-06 0 2 +15 48797307 FBN1 A G 10 0.296925 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.1511 synonymous_SNV exonic . 0.1420 0.1500 0.1585 -2 +15 48800870 FBN1 G A 1 0.00199681 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0047 synonymous_SNV exonic . 0.0073 0.0056 0.0054 0 +15 48807637 FBN1 C T 84 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . . 1 1 -2 +15 48936940 FBN1 G A 1 . . MedGen:CN169374 not_specified Likely_benign . synonymous_SNV exonic . . . . 4 +15 63340705 TPM1 C T 4 0.210863 . . . . 0.2097 . UTR5 . . 0.1126 0.1194 -2 +15 63351840 TPM1 C A 49 0.705671 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.6546 synonymous_SNV exonic . 0.6458 0.6527 0.6548 -6 +15 63351873 TPM1 T C 10 0.0241613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0766 synonymous_SNV exonic . 0.0713 0.0719 0.0714 2 +15 66679691 MAP2K1 C T 1 . . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Likely_benign 0.0003 synonymous_SNV exonic . . 0.0002 0.0005 2 +15 66777345 MAP2K1 G A 2 0.00539137 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 0.0169 synonymous_SNV exonic . 0.0207 0.0178 0.0174 -2 +15 73614834 HCN4 T C 73 0.859625 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9274 synonymous_SNV exonic . 0.9344 0.9315 0.9391 -2 +15 73615097 HCN4 T C 3 0.0081869 -3.599 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.03 nonsynonymous_SNV exonic T 0.0126 0.0145 0.0120 -2 +15 73615786 HCN4 G C 1 0.00339457 0.186 Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0118 nonsynonymous_SNV exonic T 0.0132 0.0115 0.0126 -2 +15 73615878 HCN4 C T 6 0.0275559 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0484 synonymous_SNV exonic . 0.0488 0.0497 0.0476 -2 +15 73621946 HCN4 G A 2 0.053115 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.0910 0.0957 0.1067 -2 +15 73660442 HCN4 G A 1 . 2.050 . . . . nonsynonymous_SNV exonic D . 3.015e-05 . 7 +15 73660505 HCN4 C T 9 0.0249601 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1222 nonsynonymous_SNV exonic T 0.0508 0.0637 0.0594 -2 +15 73660564 HCN4 C T 1 . . . . . . synonymous_SNV exonic . 0.0001 0 . 4 +17 8192922 na C T 5 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3 . 0.0433 0.0388 0.0423 -2 +17 8192922 na C T 5 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3 . 0.0433 0.0388 0.0423 -2 +17 8192970 RANGRF G A 2 0.00778754 . . . . 0.0187 . UTR3 . 0.0197 0.0181 0.0188 -2 +17 8193203 na G A 1 0.00119808 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.0034 synonymous_SNV exonic . 0.0023 0.0033 0.0078 0 +17 37822311 TCAP A C 64 0.54972 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.7255 synonymous_SNV exonic . 0.7122 0.7262 0.7038 -6 +17 39912145 JUP T A 57 0.58726 1.242 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7291 nonsynonymous_SNV exonic T 0.7391 0.7357 0.7421 -2 +17 39914971 JUP T C 1 . 5.519 . . . . nonsynonymous_SNV exonic T . . . 7 +17 39925452 JUP A G 1 . 5.856 . . . . nonsynonymous_SNV exonic T . 9.18e-06 . 7 +17 39925713 JUP C T 8 0.0239617 7.586 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0630 nonsynonymous_SNV exonic T 0.0581 0.0563 0.0671 1 +17 39925925 JUP A G 69 0.715655 . MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7622 synonymous_SNV exonic . 0.7552 0.7581 0.7567 -2 +17 39928051 JUP G A 1 0.000199681 3.789 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Uncertain_significance 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.68e-05 2 +17 48246607 SGCA G A 1 . 5.676 MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62 Limb-girdle_muscular_dystrophy,_type_2D Pathogenic/Likely_pathogenic 0.0002 nonsynonymous_SNV exonic D 0.0002 0.0002 0.0004 8 +17 48247689 SGCA C T 1 0.0786741 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Benign/Likely_benign 0.0381 synonymous_SNV exonic . 0.0416 0.0388 0.0406 -2 +17 68172326 KCNJ2 C T 16 0.153954 . MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.1167 synonymous_SNV exonic . 0.1186 0.1172 0.1124 -2 +17 68172409 KCNJ2 A G 2 0.000199681 0.003 MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C1865018,OMIM:609622|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Andersen_Tawil_syndrome|Short_QT_syndrome_3|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0002 2 +17 78078656 GAA G A 2 0.0115815 4.921 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided other 0.0317 nonsynonymous_SNV exonic T 0.0315 0.0327 0.0350 -2 +17 78078709 GAA T C 68 0.714457 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided Benign 0.7654 synonymous_SNV exonic . 0.7490 0.7563 0.7533 -2 +17 78079597 GAA A G 69 0.600839 -1.974 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7455 nonsynonymous_SNV exonic T 0.7383 0.7402 0.7399 -2 +17 78079643 GAA C T 26 0.10603 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign 0.2307 synonymous_SNV exonic . 0.22 0.2254 0.2138 -2 +17 78079669 GAA G A 69 0.602436 1.133 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.7460 nonsynonymous_SNV exonic T 0.7381 0.7402 0.7398 -2 +17 78081515 GAA G A 1 0.00239617 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0107 synonymous_SNV exonic . 0.0120 0.0102 0.0095 -2 +17 78081515 GAA G A 1 0.00239617 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0107 synonymous_SNV exonic . 0.0120 0.0102 0.0095 -2 +17 78081655 GAA G A 1 0.000399361 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0016 synonymous_SNV exonic . 0.0015 0.0018 0.0016 0 +17 78081661 GAA A T 6 0.110224 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0687 synonymous_SNV exonic . 0.0719 0.0656 0.0713 -2 +17 78082181 GAA G A 1 . 5.968 . . . 7.565e-05 nonsynonymous_SNV exonic D 0.0001 0.0001 0.0004 10 +17 78082504 GAA G A 69 0.602835 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7474 synonymous_SNV exonic . 0.7380 0.7401 0.7392 -2 +17 78083791 GAA C T 6 0.0982428 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0658 synonymous_SNV exonic . 0.0715 0.0657 0.0712 -2 +17 78084769 GAA G A 26 0.159545 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.2751 synonymous_SNV exonic . 0.2816 0.2765 0.2704 -2 +17 78084781 GAA C T 1 0.000199681 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . 0.0001 0.0002 6.68e-05 2 +17 78087041 GAA G A 1 0.0780751 2.321 .|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity,_other 0.0675 nonsynonymous_SNV exonic T 0.0348 0.0385 0.0470 -2 +17 78087109 GAA A G 28 0.241613 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.3708 synonymous_SNV exonic . 0.2793 0.2879 0.2959 -2 +17 78091405 GAA G A 69 0.711861 -0.394 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7645 nonsynonymous_SNV exonic T 0.7499 0.7566 0.7527 -2 +17 78092019 GAA C T 1 . 7.757 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Uncertain_significance 4.577e-05 nonsynonymous_SNV exonic D . 4.495e-05 6.687e-05 10 +17 78092063 GAA G A 66 0.509385 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.6465 synonymous_SNV exonic . 0.6427 0.6386 0.6279 -2 +18 3067278 MYOM1 A G 33 0.594449 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5350 synonymous_SNV exonic . 0.4664 0.4685 0.4680 -2 +18 3075746 MYOM1 G A 13 0.183506 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2178 synonymous_SNV exonic . 0.1697 0.1666 0.1958 -2 +18 3086065 MYOM1 C T 3 0.0521166 5.971 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0783 nonsynonymous_SNV exonic T 0.0716 0.0792 0.0798 1 +18 3126811 MYOM1 A G 20 0.254393 0.079 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1523 nonsynonymous_SNV exonic T 0.1415 0.1432 0.1403 -2 +18 3129297 MYOM1 C T 1 0.000599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0034 synonymous_SNV exonic . 0.0034 0.0036 0.0023 0 +18 3129368 MYOM1 T C 1 . -0.620 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0007 0 +18 3135639 MYOM1 C T 1 . . . . . 1.503e-05 synonymous_SNV exonic . . 1.791e-05 . 4 +18 3164385 MYOM1 C T 14 0.16873 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2406 synonymous_SNV exonic . 0.2072 0.2097 0.1874 -2 +18 3168816 MYOM1 G A 19 0.282149 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2619 synonymous_SNV exonic . 0.2648 0.2633 0.2740 -2 +18 3173964 MYOM1 G A 21 0.316094 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3103 synonymous_SNV exonic . 0.3157 0.3126 0.3221 -2 +18 3176040 MYOM1 C G 48 0.757188 -1.049 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7042 nonsynonymous_SNV exonic T 0.7156 0.7079 0.7326 -2 +18 3176063 MYOM1 C T 20 0.273163 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3057 synonymous_SNV exonic . 0.3116 0.3079 0.3207 -2 +18 3188857 MYOM1 A G 8 0.0894569 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0577 synonymous_SNV exonic . 0.0589 0.0557 0.0462 -2 +18 3188873 MYOM1 G A 7 0.0716853 0.500 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0573 nonsynonymous_SNV exonic T 0.0586 0.0553 0.0458 -2 +18 3188976 MYOM1 A G 23 0.443291 2.095 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4155 nonsynonymous_SNV exonic T 0.4153 0.4177 0.4448 -2 +18 3215030 MYOM1 C A 5 0.0730831 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0652 synonymous_SNV exonic . 0.0565 0.0642 0.0665 -2 +18 3215131 MYOM1 G T 2 0.013778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0174 synonymous_SNV exonic . 0.0127 0.0154 0.0171 -2 +18 3215156 MYOM1 C G 2 0.128994 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0979 synonymous_SNV exonic . 0.0858 0.0915 0.0930 -2 +18 3215158 MYOM1 C G 2 0.127995 1.149 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0984 nonsynonymous_SNV exonic T 0.0859 0.0915 0.0930 -2 +18 9117867 NDUFV2 T C 25 0.778954 0.840 MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374 Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified Benign 0.8157 nonsynonymous_SNV exonic T 0.8194 0.8155 0.8134 -2 +18 9119489 NDUFV2 A T 4 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV exonic . 0.1129 0.1060 0.0999 -2 +18 9119489 NDUFV2 A T 4 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV exonic . 0.1129 0.1060 0.0999 -2 +18 19444588 MIB1 C A 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.954e-06 . 4 +18 28648071 DSC2 G A 1 0.00159744 . MedGen:C1864850,OMIM:610476|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 8.964e-05 6.67e-05 0 +18 28648975 DSC2 C T 3 0.0275559 0.324 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0540 nonsynonymous_SNV exonic T 0.0452 0.0517 0.0521 -2 +18 28649042 DSC2 T C 3 0.196486 -1.683 MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0842 nonsynonymous_SNV exonic T 0.0837 0.0837 0.0794 -2 +18 28672067 DSC2 T C 1 0.00379393 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0127 synonymous_SNV exonic . 0.0117 0.0125 0.0151 -2 +18 28673565 DSC2 T C 9 0.123602 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1111 synonymous_SNV exonic . 0.1210 0.1129 0.1185 -2 +18 29104503 DSG2 T A 1 . . MedGen:C1857777,OMIM:610193 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10 Likely_benign 0.0002 synonymous_SNV exonic . 0.0002 0.0003 0.0001 2 +18 29104698 DSG2 C T 25 0.526558 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3687 synonymous_SNV exonic . 0.3787 0.3718 0.3792 -6 +18 29104714 DSG2 A G 13 0.0323482 3.997 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0887 nonsynonymous_SNV exonic T 0.0859 0.0869 0.0929 -6 +18 29122618 DSG2 G A 2 0.0259585 1.194 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0739 nonsynonymous_SNV exonic T 0.0777 0.0748 0.0842 -2 +18 29122692 DSG2 C T 1 0.00319489 . MedGen:C1857777,OMIM:610193|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified Benign 4.496e-05 synonymous_SNV exonic . 0.0001 3.585e-05 6.663e-05 0 +18 29122696 DSG2 A T 1 . -0.410 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.793e-05 . 4 +18 29122799 DSG2 G A 13 0.240016 2.152 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2565 nonsynonymous_SNV exonic T 0.2540 0.2551 0.2602 -6 +18 29125854 DSG2 A G 13 0.197484 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1076 synonymous_SNV exonic . 0.1076 0.1063 0.1080 -6 +18 29126670 DSG2 T C 26 0.542931 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3705 synonymous_SNV exonic . 0.3777 0.3733 0.3807 -6 +18 29172865 TTR G A 3 0.0233626 -0.088 .|MedGen:CN169374|MedGen:CN230736 TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype Benign 0.0709 nonsynonymous_SNV exonic T 0.0780 0.0728 0.0812 -2 +18 32374041 DTNA G A 1 . . MedGen:CN169374 not_specified Likely_benign . synonymous_SNV exonic . . 8.977e-06 . 4 +18 32374177 DTNA A G 1 . 1.613 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . nonsynonymous_SNV exonic T . . . 4 +18 32470291 DTNA G A 25 0.266973 2.442 MedGen:CN169374 not_specified Benign 0.2485 nonsynonymous_SNV exonic . . 0.2083 0.1994 -2 +18 34156497 FHOD3 A G 2 0.0660942 0.448 . . . 0.0051 nonsynonymous_SNV exonic T 0.0043 0.0053 0.0051 -2 +18 34205551 FHOD3 C T 4 0.0872604 2.410 . . . 0.0594 synonymous_SNV exonic . 0.0604 0.0583 0.0555 -2 +18 34232543 FHOD3 G A 3 0.0165735 -0.091 . . . 0.0383 nonsynonymous_SNV exonic . . 0.0274 0.0249 -2 +18 34232610 FHOD3 C T 18 0.319489 1.357 . . . 0.3083 nonsynonymous_SNV exonic . . 0.2812 0.2817 -2 +18 34232657 FHOD3 G A 13 0.0702875 -0.089 . . . 0.1429 nonsynonymous_SNV exonic . . 0.1779 0.1720 -2 +18 34238099 FHOD3 C T 1 0.000599042 1.651 . . . 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0003 6.665e-05 0 +18 34273279 FHOD3 C G 13 0.0902556 1.318 . . . 0.1783 nonsynonymous_SNV exonic T 0.1810 0.1802 0.1770 -2 +18 34273358 FHOD3 C A 2 0.00179712 . . . . 0.0037 synonymous_SNV exonic . 0.0042 0.0041 0.0037 0 +18 34289142 FHOD3 A G 2 0.014976 -1.504 . . . 0.0385 nonsynonymous_SNV exonic T 0.0335 0.0360 0.0318 -2 +18 34298542 FHOD3 G A 1 0.00379393 3.308 . . . 0.0018 nonsynonymous_SNV exonic T 0.0023 0.0022 0.0017 0 +18 34310668 FHOD3 C T 25 0.319489 . . . . 0.3239 synonymous_SNV exonic . 0.3427 0.3299 0.3368 -2 +18 34324091 FHOD3 G A 23 0.376198 3.145 . . . 0.3054 nonsynonymous_SNV exonic T 0.3263 0.3112 0.3166 -2 +18 34326982 FHOD3 G A 1 0.014976 . . . . 2.999e-05 synonymous_SNV exonic . 0.0002 4.478e-05 0.0001 -2 +19 16591464 CALR3 G A 63 0.650559 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7109 synonymous_SNV exonic . 0.7043 0.7065 0.7044 -2 +19 16593321 CALR3 C T 1 . . . . . . synonymous_SNV exonic . . . 6.66e-05 4 +19 16593359 CALR3 C T 1 0.0421326 0.011 MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0048 nonsynonymous_SNV exonic T 0.0059 0.0044 0.0038 -2 +19 16593573 CALR3 G A 11 0.144569 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.1648 synonymous_SNV exonic . 0.1692 0.1645 0.1682 -2 +19 16601194 CALR3 C T 63 0.658946 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7102 synonymous_SNV exonic . 0.7038 0.7052 0.7030 -2 +19 35524824 SCN1B T C 36 0.377596 -0.608 MedGen:CN169374 not_specified Benign 0.4522 nonsynonymous_SNV exonic T 0.3721 0.3838 0.3918 -2 +19 35524939 SCN1B C A 17 0.127396 3.869 MedGen:CN169374 not_specified Benign 0.1818 nonsynonymous_SNV exonic T 0.1455 0.1515 0.1693 -2 +19 35524944 SCN1B G C 17 0.119209 1.238 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.1828 nonsynonymous_SNV exonic T 0.1454 0.1515 0.1690 -2 +19 35530073 SCN1B T C 2 0.0155751 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0311 synonymous_SNV exonic . 0.0321 0.0315 0.0290 -2 +19 46273830 DMPK G A 1 . 1.244 . . . . nonsynonymous_SNV exonic T . . . 4 +19 46273830 DMPK G A 1 . 1.244 . . . . nonsynonymous_SNV exonic T . . . 4 +19 46273830 DMPK G A 1 . 1.244 . . . . nonsynonymous_SNV exonic T . . . 4 +19 46274624 DMPK G A 1 0.00559105 3.047 . . . 0.0161 nonsynonymous_SNV exonic T 0.0149 0.0168 0.0170 -2 +19 46275976 DMPK G C 9 0.145168 2.333 MedGen:CN169374 not_specified Benign 0.1182 nonsynonymous_SNV exonic T 0.1129 0.1127 0.1273 -2 +19 47258842 FKRP C T 11 0.15016 . MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374 Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|Congenital_muscular_dystrophy-dystroglycanopathy_(with_or_without_mental_retardation)_type_B5|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies_type_A5|not_specified Benign 0.1651 synonymous_SNV exonic . 0.1418 0.1404 0.1368 -2 +19 47258956 FKRP C T 1 0.0061901 . MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|not_specified Benign 0.0214 synonymous_SNV exonic . 0.0134 0.0141 0.0133 -2 +19 47259048 FKRP C G 1 0.0061901 0.398 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified Conflicting_interpretations_of_pathogenicity 0.0384 nonsynonymous_SNV exonic D 0.0106 0.0148 0.0117 1 +19 47259134 FKRP C A 1 0.00259585 1.067 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0173 nonsynonymous_SNV exonic D 0.0049 0.0068 0.0049 1 +19 49669370 TRPM4 A G 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0002 0.0002 0.0001 2 +19 49671207 TRPM4 G A 3 0.0159744 0.454 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign 0.0222 nonsynonymous_SNV exonic T 0.0187 2.801e-05 0.0114 -2 +19 49671212 TRPM4 T G 3 0.0159744 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign 0.0222 synonymous_SNV exonic . 0.0187 1.867e-05 0.0113 -2 +19 49671281 TRPM4 G A 3 0.0910543 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0500 synonymous_SNV exonic . 0.0423 0.0456 0.0403 -2 +19 49671838 TRPM4 G A 1 . 0.370 . . . 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0001 0 2 +19 49671980 TRPM4 G A 3 0.0157748 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0435 synonymous_SNV exonic . 0.0185 0.0225 0.0307 -2 +19 49674846 TRPM4 C T 1 0.000798722 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0045 synonymous_SNV exonic . 0.0056 0.0046 0.0074 0 +19 49675017 TRPM4 G T 3 0.0597045 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0455 synonymous_SNV exonic . 0.0372 0.0418 0.0381 -2 +19 49686028 TRPM4 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 1 0.00439297 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Progressive_familial_heart_block_type_1B|Brugada_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0112 nonframeshift_deletion exonic . 0.0098 0.0111 0.0113 -2 +19 49692270 TRPM4 G A 1 . . . . . 1.503e-05 synonymous_SNV exonic . . 2.728e-05 . 4 +19 49699866 TRPM4 C T 6 0.11242 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0910 synonymous_SNV exonic . 0.0411 0.0515 0.0461 -2 +19 49705249 TRPM4 G A 1 0.0233626 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0002 0.0004 0.0003 -2 +19 49714497 TRPM4 C T 2 0.00159744 4.157 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0051 nonsynonymous_SNV exonic T 0.0033 0.0039 0.0042 0 +19 55665410 TNNI3 C T 6 0.0477236 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0718 unknown exonic . 0.0658 0.0710 0.0649 -2 +19 55667647 TNNI3 C A 4 0.0227636 2.843 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0649 unknown exonic . 0.0505 0.0567 0.0546 -2 +20 30408306 MYLK2 C G 5 0.00838658 4.119 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0194 nonsynonymous_SNV exonic T 0.0202 0.0212 0.0203 -2 +20 30409452 MYLK2 T C 10 0.0720847 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0791 synonymous_SNV exonic . 0.0802 0.0781 0.0654 -2 +20 30411298 MYLK2 C T 1 0.000599042 6.299 MedGen:C3495498,OMIM:192600|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0032 3 +20 30414503 MYLK2 C T 1 0.00499201 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0157 synonymous_SNV exonic . 0.0185 0.0163 0.0132 -2 +20 30414528 MYLK2 G A 3 0.00958466 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0300 . intronic . 0.0265 0.0281 0.0257 -2 +20 30414560 MYLK2 C G 10 0.0720847 . . . . 0.0789 . intronic . 0.08 0.0782 0.0654 -2 +20 30414560 MYLK2 C G 10 0.0720847 . . . . 0.0789 . intronic . 0.08 0.0782 0.0654 -2 +20 30414578 MYLK2 G A 4 0.0201677 . . . . 0.0432 . intronic . 0.0469 0.0444 0.0400 -2 +20 30414578 MYLK2 G A 4 0.0201677 . . . . 0.0432 . intronic . 0.0469 0.0444 0.0400 -2 +20 42743454 JPH2 A G 14 0.257388 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.3485 synonymous_SNV exonic . 0.3065 0.2967 0.3031 -2 +20 42744587 JPH2 G C 11 0.152955 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.2759 synonymous_SNV exonic . 0.1887 0.2230 0.2293 -2 +20 42744690 JPH2 C A 1 . 1.679 . . . . nonsynonymous_SNV exonic T . 0 . 4 +20 42744722 JPH2 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +20 42744802 JPH2 C T 2 0.0153754 0.202 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0368 nonsynonymous_SNV exonic T 0.004 0.0050 0.0081 -2 +20 42747247 JPH2 C T 13 0.270367 5.490 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.1362 nonsynonymous_SNV exonic T 0.1290 0.1342 0.1291 1 +20 42747254 JPH2 G A 4 0.048722 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.1027 0.0951 0.1001 -2 +20 42788735 JPH2 C T 1 . 4.748 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123 Hypertrophic_cardiomyopathy|Inborn_genetic_diseases Uncertain_significance 0.0004 nonsynonymous_SNV exonic T . 0.0004 0.0006 2 +20 42815190 JPH2 G A 66 0.854233 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.8316 synonymous_SNV exonic . 0.8293 0.8292 0.8375 -2 +20 61039958 GATA5 T C 44 0.629193 . . . . 0.5152 synonymous_SNV exonic . 0.5094 0.5142 0.5374 -2 +20 61040453 GATA5 C G 42 0.534545 . . . . 0.4912 synonymous_SNV exonic . 0.4841 0.4921 0.5042 -2 +20 61040951 GATA5 C T 41 0.529553 . . . . 0.5459 synonymous_SNV exonic . 0.4776 0.4787 0.4993 -2 +20 61048549 GATA5 G A 45 0.388179 . . . . 0.4679 synonymous_SNV exonic . 0.4344 0.4383 0.4330 -2 +20 61050379 GATA5 T G 12 0.142572 0.113 . . . 0.2407 nonsynonymous_SNV exonic T . 0.1733 0.1805 -2 +21 35742799 KCNE2 A G 1 0.00139776 4.000 MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided Benign 0.0054 nonsynonymous_SNV exonic D 0.0069 0.0060 0.0064 3 +21 35742947 KCNE2 T C 1 0.000798722 5.453 MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic D 0.0002 0.0011 0.0001 6 +21 35821821 KCNE1 T C 48 0.673922 -1.420 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign 0.6443 nonsynonymous_SNV exonic T 0.6369 0.6420 0.6458 -2 +21 35821833 KCNE1 A G 1 . 1.577 . . . 4.513e-05 nonsynonymous_SNV exonic T 0.0001 2.688e-05 . 4 +21 35821849 KCNE1 C T 1 0.00379393 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0051 synonymous_SNV exonic . 0.0056 0.0055 0.0049 0 +22 19867771 TXNRD2 C T 12 0.269169 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1620 unknown exonic . 0.1615 0.1619 0.1510 -2 +22 19868218 TXNRD2 A G 65 0.718251 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7400 unknown exonic T 0.7377 0.7391 0.7310 -2 +22 19868228 TXNRD2 G A 1 0.0169728 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0044 unknown exonic . 0.0044 0.0039 0.0021 -10 +22 19882984 TXNRD2 T G 13 0.251198 -1.829 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1665 nonsynonymous_SNV exonic T 0.1662 0.1666 0.1572 -2 +22 19906511 TXNRD2 G A 11 0.168131 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1510 synonymous_SNV exonic . 0.1476 0.1457 0.1431 -2 +22 19907099 TXNRD2 C A 31 0.483027 6.178 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4078 nonsynonymous_SNV exonic T 0.3312 0.3327 0.3772 1 +22 19907118 TXNRD2 G A 42 0.596845 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5426 synonymous_SNV exonic . 0.4793 0.4826 0.5193 -2 +X 31496350 DMD C T 84 0.881854 2.138 MedGen:CN169374 not_specified Benign 0.9459 nonsynonymous_SNV exonic T 0.9392 0.9407 0.9457 -2 +X 31496398 DMD T C 4 0.0148344 -0.113 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0340 nonsynonymous_SNV exonic T 0.0297 0.0330 0.0318 2 +X 31697636 DMD A G 20 0.181192 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1871 synonymous_SNV exonic . 0.2027 0.1943 0.1815 -6 +X 31893307 DMD T G 17 0.183311 1.905 MedGen:CN169374 not_specified Benign 0.2685 . splicing T 0.2178 0.2076 0.2224 6 +X 31986607 DMD G A 5 0.0129801 5.113 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0393 nonsynonymous_SNV exonic T 0.0378 0.0410 0.0404 -3 +X 32305793 DMD C T 1 . 0.749 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T . 0.0001 9.508e-05 2 +X 32380996 DMD C T 53 0.465166 6.788 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4823 nonsynonymous_SNV exonic T 0.4770 0.4775 0.4730 -3 +X 32398728 DMD C T 1 0.000529801 2.357 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified Conflicting_interpretations_of_pathogenicity 0 nonsynonymous_SNV exonic T . 1.255e-05 . 4 +X 32490403 DMD G A 2 0.000264901 6.261 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0003 nonsynonymous_SNV exonic T 0.0004 0.0004 0.0002 5 +X 32503194 DMD T C 54 0.748344 0.631 MedGen:CN169374 not_specified Benign 0.6644 nonsynonymous_SNV exonic T 0.6629 0.6613 0.6750 -2 +X 32509625 DMD A C 1 0.00291391 2.887 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0116 nonsynonymous_SNV exonic T 0.0083 0.0110 0.0112 -10 +X 32591931 DMD T C 4 0.110464 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1329 synonymous_SNV exonic . 0.1225 0.1272 0.1269 -6 +X 32591950 DMD C T 1 . 6.992 MedGen:C3668940,OMIM:302045 Dilated_cardiomyopathy_3B Uncertain_significance . nonsynonymous_SNV exonic D . 1.262e-05 . 10 +X 32663135 DMD T G 1 . 4.306 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0009 0.0006 0.0005 0 +X 108867996 KCNE5 C T 1 . 7.190 . . . 7.974e-05 nonsynonymous_SNV exonic D . 6.475e-05 9.649e-05 10 +X 108868153 KCNE5 G A 11 0.0519205 -2.020 . . . 0.1836 nonsynonymous_SNV exonic T 0.1424 0.1677 0.1475 -2 +X 119573071 LAMP2 C T 2 0.00238411 2.464 MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN517202 Danon_disease|not_specified|not_provided Benign/Likely_benign 0.0061 nonsynonymous_SNV exonic T 0.0065 0.0069 0.0051 0 +X 119590533 LAMP2 T A 25 0.380927 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4528 synonymous_SNV exonic . 0.4261 0.4100 0.4223 -2 +X 153641619 TAZ C T 2 0.00450331 . . . . 0.0100 . intronic . 0.0089 0.0089 0.0057 0