| RS727504675 |
VCL
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W |
| RS727504677 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504679 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727504686 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727504688 |
MYO3A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases |
| RS727504689 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS727504693 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS727504696 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504697 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504698 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504703 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS727504707 |
PRKAG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype |
| RS727504709 |
RDX
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 24 |
| RS727504712 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS727504715 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504718 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2 |
| RS727504721 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS727504725 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Inborn genetic diseases |
| RS727504730 |
WFS1
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders |
| RS727504732 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504736 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504738 |
DSP
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504740 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS727504741 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727504742 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Primary dilated cardiomyopathy |
| RS727504743 |
MYO6
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504746 |
ATP6V1B1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Renal tubular acidosis with progressive nerve deafness |
| RS727504747 |
HRAS
|
Health Risk |
Likely pathogenic |
Costello syndrome, Costello syndrome |
| RS727504750 |
EDA
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia |
| RS727504761 |
CDH23
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727504763 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS727504767 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727504769 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Short QT syndrome type 2 |
| RS727504770 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy |
| RS727504771 |
GIPC3
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727504773 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Fabry disease |
| RS727504776 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504777 |
ADGRV1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Usher syndrome type 2C |
| RS727504778 |
JUP
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 12, Naxos disease |
| RS727504782 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504783 |
DSG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy |
| RS727504786 |
PKP2
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS727504791 |
PCDH15
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1F, PCDH15-related disorder |
| RS727504793 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504797 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727504799 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS727504801 |
SCN5A
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Brugada syndrome |
| RS727504802 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, DNAH5-related disorder |
| RS727504811 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS727504814 |
EDA
|
Health Risk |
Pathogenic |
Hypohidrotic X-linked ectodermal dysplasia, Nonpapillary renal cell carcinoma |
| RS727504815 |
DNAAF2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 10 |
| RS727504819 |
MAP2K1
|
Health Risk |
Likely pathogenic |
Cardiofaciocutaneous syndrome 3, Noonan syndrome 1 |
| RS727504821 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504825 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS727504829 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS727504830 |
TECTA
|
Health Risk |
Pathogenic |
TECTA-related disorder, Autosomal recessive nonsyndromic hearing loss 21 |
| RS727504831 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504832 |
COL11A2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504836 |
MAP2K2
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, Noonan syndrome and Noonan-related syndrome |
| RS727504838 |
DIAPH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| RS727504843 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504850 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome |
| RS727504851 |
TTN
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727504856 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS727504857 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727504859 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD |
| RS727504864 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504867 |
USH2A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Usher syndrome type 2A |
| RS727504872 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A |
| RS727504878 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504887 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS727504890 |
USH1G
|
Health Risk |
Likely pathogenic |
Usher syndrome, Usher syndrome |
| RS727504893 |
USH2A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Retinitis pigmentosa 39 |
| RS727504900 |
SOS1
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, RASopathy |
| RS727504901 |
EMD
|
Health Risk |
Pathogenic |
Neuromuscular disease, X-linked Emery-Dreifuss muscular dystrophy |
| RS727504904 |
NEBL
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504905 |
CSRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS727504913 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504914 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727504918 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504922 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504923 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727504925 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727504932 |
LMNA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Charcot-Marie-Tooth disease type 2 |
| RS727504936 |
OTOF
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727504937 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS727504940 |
JUP
|
Health Risk |
Conflicting classifications of pathogenicity |
Naxos disease, Arrhythmogenic right ventricular dysplasia 12 |
| RS727504945 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727504949 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504953 |
LAMP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Danon disease |
| RS727504965 |
MYH14
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS727504969 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia |
| RS727504971 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504972 |
CCDC40
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 15 |
| RS727504976 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS727504978 |
ADGRV1
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727504980 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727504985 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727504986 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727504987 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |