| RS724160022 |
AIFM1
|
Health Risk |
Likely pathogenic |
Deafness, X-linked 5 |
| RS724160024 |
AIFM1
|
Health Risk |
Likely pathogenic |
Deafness, X-linked 5 |
| RS724160025 |
AIFM1
|
Health Risk |
Likely pathogenic |
Deafness, X-linked 5 |
| RS724160026 |
AIFM1
|
Health Risk |
Likely pathogenic |
Deafness, X-linked 5 |
| RS724160029 |
PEX2
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5B |
| RS724160030 |
IGSF3
|
Health Risk |
Pathogenic |
Familial congenital nasolacrimal duct obstruction, Familial congenital nasolacrimal duct obstruction |
| RS7244681 |
LOXHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases |
| RS72466451 |
HSPD1
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 4, Leukodystrophy |
| RS72466462 |
CYP1B1
|
Health Risk |
Pathogenic |
Anterior segment dysgenesis 6, CYP1B1-related glaucoma with or without anterior segment dysgenesis |
| RS72466485 |
DCTN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Perry syndrome, Neuronopathy |
| RS72466487 |
DCTN1
|
Health Risk |
Pathogenic |
Perry syndrome, Perry syndrome |
| RS72466489 |
DCTN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronopathy, distal hereditary motor |
| RS72466562 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS72466563 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS72466567 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Cardiomyopathy |
| RS72466575 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Cardiomyopathy |
| RS72466581 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Duchenne muscular dystrophy |
| RS72466590 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 3B |
| RS72466595 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Dilated cardiomyopathy 3B |
| RS72468626 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Becker muscular dystrophy, Becker muscular dystrophy |
| RS72468632 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS72468666 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 3B, Duchenne muscular dystrophy |
| RS72468667 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS72468679 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Duchenne muscular dystrophy |
| RS72468680 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Dilated cardiomyopathy 3B |
| RS72468699 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction cardiomyopathy, Primary dilated cardiomyopathy |
| RS72468700 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS72470507 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin |
| RS72470513 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS72470523 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 3B, Duchenne muscular dystrophy |
| RS72474224 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS72478580 |
PRLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple fibroadenoma of the breast, PRLR-related disorder |
| RS72480429 |
TGFB1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS72480437 |
CYP1B1
|
Health Risk |
Pathogenic |
Congenital glaucoma, Glaucoma 3A |
| RS72480439 |
CYP1B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Anterior segment dysgenesis 6, Congenital glaucoma |
| RS72480442 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Congenital glaucoma, Anterior segment dysgenesis 6 |
| RS72481807 |
CYP1B1
|
Health Risk |
Pathogenic |
Primary congenital glaucoma, Anterior segment dysgenesis 6 |
| RS72481822 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS7249952 |
DOCK6
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, DOCK6-related disorder |
| RS7252610 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiomyopathy |
| RS7252811 |
TCF3
|
Health Risk |
Conflicting classifications of pathogenicity |
Agammaglobulinemia 8b, autosomal recessive |
| RS72541813 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS72541815 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS72542426 |
ABCG5
|
Health Risk |
Conflicting classifications of pathogenicity |
Sitosterolemia, Sitosterolemia 2 |
| RS72542427 |
ABCG5
|
Health Risk |
Conflicting classifications of pathogenicity |
Sitosterolemia, Sitosterolemia 2 |
| RS72542742 |
NR3C1
|
Health Risk |
Conflicting classifications of pathogenicity |
Glucocorticoid resistance, Glucocorticoid resistance |
| RS72544141 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 4, Cardiac arrhythmia |
| RS72544145 |
SCN2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Atrial fibrillation, familial |
| RS72546315 |
LRRK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Parkinson disease 8, Inborn genetic diseases |
| RS72546338 |
LRRK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8 |
| RS72546668 |
CAV3
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 2/9, digenic |
| RS72546669 |
CAV3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72546675 |
SCN4B
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Long QT syndrome 10 |
| RS72547285 |
CYBA
|
Health Risk |
Conflicting classifications of pathogenicity |
Granulomatous disease, chronic |
| RS72547505 |
SLC10A2
|
Health Risk |
Conflicting classifications of pathogenicity |
SLC10A2-related disorder, Bile acid malabsorption |
| RS72547508 |
CYP11A1
|
Health Risk |
Likely pathogenic |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46 |
| RS72547528 |
VKORC1
|
Health Risk |
Likely pathogenic |
Vitamin K-dependent clotting factors, combined deficiency of |
| RS72547529 |
VKORC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Warfarin response, Vitamin K-dependent clotting factors |
| RS72547544 |
CHST6
|
Health Risk |
Pathogenic |
Macular corneal dystrophy, Macular corneal dystrophy |
| RS72547551 |
SPG7
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia |
| RS72547552 |
SPG7
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |
| RS72547553 |
SPG7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7 |
| RS72547554 |
ALDH3A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547556 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS72547559 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547561 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547562 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547563 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
— |
| RS72547564 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547566 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547567 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547568 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547569 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547570 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
— |
| RS72547571 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547573 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547575 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547577 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547602 |
DPYD
|
Health Risk |
Pathogenic |
Fluorouracil response, Fluorouracil response |
| RS72548741 |
GJA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Syndactyly type 3, Hypoplastic left heart syndrome 1 |
| RS72548742 |
GJA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypoplastic left heart syndrome 1, Syndactyly type 3 |
| RS72549297 |
KIT
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS72549304 |
DPYD
|
Health Risk |
Pathogenic/Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72549307 |
DPYD
|
Health Risk |
Conflicting classifications of pathogenicity |
Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases |
| RS72549308 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72549309 |
DPYD
|
Health Risk |
Pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72549310 |
DPYD
|
Health Risk |
Pathogenic/Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72549320 |
FMO3
|
Health Risk |
Likely pathogenic |
Trimethylaminuria, Trimethylaminuria |
| RS72549322 |
FMO3
|
Health Risk |
Likely pathogenic |
Trimethylaminuria, Trimethylaminuria |
| RS72549323 |
FMO3
|
Health Risk |
Likely pathogenic |
Trimethylaminuria, Trimethylaminuria |
| RS72549324 |
FMO3
|
Health Risk |
Conflicting classifications of pathogenicity |
Trimethylaminuria, Trimethylaminuria |
| RS72549325 |
FMO3
|
Health Risk |
Likely pathogenic |
FMO3 activity, decreased |
| RS72549326 |
FMO3
|
Health Risk |
Pathogenic/Likely pathogenic |
Trimethylaminuria, FMO3-related disorder |
| RS72549330 |
FMO3
|
Health Risk |
Pathogenic |
Trimethylaminuria, Trimethylaminuria |
| RS72549331 |
FMO3
|
Health Risk |
Conflicting classifications of pathogenicity |
Trimethylaminuria, FMO3-related disorder |
| RS72549332 |
FMO3
|
Health Risk |
Likely pathogenic |
Trimethylaminuria, Trimethylaminuria |
| RS72549334 |
FMO3
|
Health Risk |
Pathogenic/Likely pathogenic |
Trimethylaminuria, Trimethylaminuria |
| RS72549367 |
XDH
|
Health Risk |
Pathogenic |
Xanthinuria type II, Hereditary xanthinuria type 1 |
| RS72549369 |
XDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS72549370 |
XDH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary xanthinuria type 1, Xanthinuria type II |