| RS61750441 |
ORC4
|
Health Risk |
Conflicting classifications of pathogenicity |
ORC4-related disorder, ORC4-related disorder |
| RS61750457 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61750459 |
RS1
|
Health Risk |
Pathogenic |
— |
| RS61750560 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61750561 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61750562 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, ABCA4-related retinopathy |
| RS61750563 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61750564 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19 |
| RS61750566 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61750567 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS61750568 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS61750569 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, ABCA4-related retinopathy |
| RS61750571 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Stargardt disease, Retinal dystrophy |
| RS61750573 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61750574 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61750575 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Cone-rod dystrophy 3, Stargardt disease |
| RS61750577 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS61750579 |
VWF
|
Health Risk |
Likely pathogenic |
Von Willebrand disease type 2A, von Willebrand disease type 2 |
| RS61750580 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, Hereditary von Willebrand disease |
| RS61750584 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2A, Hereditary von Willebrand disease |
| RS61750585 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2A, von Willebrand disease type 2 |
| RS61750588 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61750593 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS61750595 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 1 |
| RS61750596 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS61750601 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary von Willebrand disease, von Willebrand disease type 1 |
| RS61750602 |
VWF
|
Health Risk |
Pathogenic |
— |
| RS61750603 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
von Willebrand disease type 2, VWF-related disorder |
| RS61750604 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
Abnormality of coagulation, VWF-related disorder |
| RS61750605 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS61750606 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, See cases |
| RS61750610 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS61750612 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 1 |
| RS61750614 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61750617 |
VWF
|
Health Risk |
Pathogenic |
— |
| RS61750620 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disease type 1, von Willebrand disorder |
| RS61750623 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS61750624 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, VWF-related disorder |
| RS61750626 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 3 |
| RS61750630 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61750633 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Stargardt disease |
| RS61750636 |
ABCA4
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS61750637 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61750638 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS61750639 |
ABCA4
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinal dystrophy |
| RS61750641 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19 |
| RS61750642 |
ABCA4
|
Health Risk |
Likely pathogenic |
Stargardt disease, Stargardt disease |
| RS61750643 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61750644 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Inborn genetic diseases |
| RS61750645 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS61750646 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Stargardt disease, Stargardt disease |
| RS61750648 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61750649 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61750650 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61750651 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, ABCA4-related retinopathy |
| RS61750652 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Stargardt disease |
| RS61750653 |
ABCA4
|
Health Risk |
Pathogenic |
ABCA4-related disorder, Retinitis pigmentosa |
| RS61750654 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Blindness |
| RS61750655 |
ABCA4
|
Health Risk |
Likely pathogenic |
Stargardt disease, Stargardt disease |
| RS61750658 |
ABCA4
|
Health Risk |
Pathogenic |
Stargardt disease, Cone-rod dystrophy 3 |
| RS61750659 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61750815 |
PTPN13
|
Health Risk |
Conflicting classifications of pathogenicity |
Clear cell carcinoma of kidney, PTPN13-related disorder |
| RS61750844 |
DLL4
|
Health Risk |
Pathogenic |
Adams-Oliver syndrome, Adams-Oliver syndrome 6 |
| RS61750965 |
AK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Reticular dysgenesis, AK2-related disorder |
| RS61750979 |
GABRG2
|
Health Risk |
Conflicting classifications of pathogenicity |
EPILEPSY, CHILDHOOD ABSENCE |
| RS61751009 |
ZMPSTE24
|
Health Risk |
Pathogenic |
— |
| RS61751010 |
PTCH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Gorlin syndrome |
| RS61751032 |
OCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS61751035 |
RPS6KC1
|
Health Risk |
Likely pathogenic |
6 conditions, 6 conditions |
| RS61751045 |
WRN
|
Health Risk |
Conflicting classifications of pathogenicity |
Werner syndrome, Inborn genetic diseases |
| RS61751056 |
CYP26B1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61751140 |
CYP11B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase |
| RS61751154 |
CYP11B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism |
| RS61751223 |
IMPDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Leber congenital amaurosis 11 |
| RS61751262 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Stargardt disease |
| RS61751263 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19 |
| RS61751265 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS61751266 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis |
| RS61751268 |
RPGRIP1
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS61751270 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 1, Cone-rod dystrophy 13 |
| RS61751271 |
RPGRIP1
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS61751276 |
RPE65
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 2, Retinal dystrophy |
| RS61751277 |
RPE65
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 2, Retinitis pigmentosa 20 |
| RS61751279 |
RPE65
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS61751281 |
RPE65
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa 20 |
| RS61751282 |
RPE65
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS61751286 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary von Willebrand disease, Thrombocytopenia |
| RS61751288 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disease type 3, Hereditary von Willebrand disease |
| RS61751294 |
VWF
|
Health Risk |
Likely pathogenic |
— |
| RS61751296 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, Hereditary von Willebrand disease |
| RS61751297 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61751298 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
von Willebrand disease type 1, von Willebrand disease type 3 |
| RS61751301 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disorder |
| RS61751302 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
von Willebrand disease type 2, von Willebrand disease type 1 |
| RS61751303 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61751304 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61751305 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61751310 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2A, Von Willebrand disease type 2A |
| RS61751311 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2A, Von Willebrand disease type 2A |
| RS61751361 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |