| RS727503499 |
TNNI3
|
Health Risk |
Likely pathogenic |
Restrictive cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503500 |
TNNI3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503503 |
TNNI3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Restrictive cardiomyopathy |
| RS727503504 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Restrictive cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503506 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503507 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy |
| RS727503512 |
TNNT2
|
Health Risk |
Pathogenic |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 2 |
| RS727503513 |
TNNT2
|
Health Risk |
Pathogenic |
Restrictive cardiomyopathy, Hypertrophic cardiomyopathy 2 |
| RS727503516 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D |
| RS727503517 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503518 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503520 |
TPRN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79 |
| RS727503528 |
TRIOBP
|
Health Risk |
Pathogenic |
Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS727503533 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS727503536 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503537 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727503538 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503541 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503542 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, myofibrillar |
| RS727503543 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS727503545 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503546 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727503547 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, 6 conditions |
| RS727503549 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Tibial muscular dystrophy |
| RS727503550 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503551 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503552 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727503557 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503559 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727503564 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503565 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727503567 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503571 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503573 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503575 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503577 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, myofibrillar |
| RS727503585 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503586 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS727503588 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503598 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503600 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503602 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727503603 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503604 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503606 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503607 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS727503615 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503622 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Tibial muscular dystrophy, Dilated cardiomyopathy 1G |
| RS727503623 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
6 conditions, 6 conditions |
| RS727503628 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503633 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Limb-girdle muscular dystrophy |
| RS727503634 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503635 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503636 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503643 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, myofibrillar |
| RS727503644 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503649 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503652 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503655 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503656 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503657 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503658 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS727503659 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
See cases, Cardiovascular phenotype |
| RS727503660 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503661 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiomyopathy |
| RS727503673 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503676 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
TTN-related disorder, TTN-related disorder |
| RS727503678 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503679 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727503681 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503682 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS727503683 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503686 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503688 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS727503693 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503697 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS727503701 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
TTN-related disorder, Cardiovascular phenotype |
| RS727503707 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS727503708 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiomyopathy |
| RS727503710 |
USH1C
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503712 |
USH1C
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503715 |
USH2A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Retinal dystrophy |
| RS727503723 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Retinal dystrophy |
| RS727503725 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Retinitis pigmentosa 39 |
| RS727503731 |
USH2A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Retinitis pigmentosa |
| RS727503732 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS727503735 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Usher syndrome type 2A |
| RS727503736 |
USH2A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Retinitis pigmentosa 39 |
| RS727503738 |
VCL
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727503743 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS727503744 |
VHL
|
Health Risk |
Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS727503745 |
WFS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Wolfram syndrome 1 |
| RS727503746 |
WFS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Wolfram syndrome 1, Wolfram syndrome 1 |
| RS727503747 |
WFS1
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Wolfram-like syndrome, Cataract 41 |
| RS727503748 |
WFS1
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Wolfram syndrome 1, Wolfram syndrome 1 |
| RS727503752 |
WFS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Wolfram syndrome 1, Wolfram syndrome 1 |
| RS727503753 |
WFS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Wolfram syndrome 1, Inborn genetic diseases |
| RS727503755 |
CCN6
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia |
| RS727503759 |
STK11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS727503760 |
RAD51C
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O |