| RS61748481 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombocytopenia, Abnormal bleeding |
| RS61748482 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, Hereditary von Willebrand disease |
| RS61748485 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2N, von Willebrand disease type 2N |
| RS61748495 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary von Willebrand disease, von Willebrand disease type 1 |
| RS61748496 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS61748497 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2N, von Willebrand disease type 2N |
| RS61748511 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 1, von Willebrand disease type 2 |
| RS61748517 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61748520 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61748521 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Stargardt disease |
| RS61748523 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61748526 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa |
| RS61748529 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61748530 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61748531 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61748532 |
ABCA4
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61748533 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61748534 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3 |
| RS61748535 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61748536 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61748537 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS61748538 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61748539 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61748542 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61748545 |
ABCA4
|
Health Risk |
Likely pathogenic |
Macular dystrophy, Retinal dystrophy |
| RS61748547 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61748548 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61748549 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Cone-rod dystrophy 3, Age related macular degeneration 2 |
| RS61748550 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61748552 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61748554 |
ABCA4
|
Health Risk |
Pathogenic |
Stargardt disease, Severe early-childhood-onset retinal dystrophy |
| RS61748555 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61748556 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Macular dystrophy |
| RS61748558 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 19, Cone-rod dystrophy 3 |
| RS61748559 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61748568 |
SCO2;NCAPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardioencephalomyopathy, fatal infantile |
| RS61748654 |
CUL7
|
Health Risk |
Conflicting classifications of pathogenicity |
3M syndrome 1, 3M syndrome 1 |
| RS61748753 |
REST
|
Health Risk |
Pathogenic |
— |
| RS61748766 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Permanent neonatal diabetes mellitus, Diabetes mellitus |
| RS61748775 |
SULT2B1
|
Health Risk |
Conflicting classifications of pathogenicity |
SULT2B1-related disorder, Inborn genetic diseases |
| RS61748814 |
FRAS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Fraser syndrome 1, Fraser syndrome 1 |
| RS61748827 |
CC2D1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS61748898 |
TCN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Transcobalamin II deficiency, Transcobalamin II deficiency |
| RS61748906 |
GBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gaucher disease type I, Gaucher disease type II |
| RS61748989 |
ERCC6L2
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Hereditary cancer |
| RS61748996 |
TPO
|
Health Risk |
Conflicting classifications of pathogenicity |
TPO-related disorder, Inborn genetic diseases |
| RS61748999 |
RYR3
|
Health Risk |
Conflicting classifications of pathogenicity |
Epileptic encephalopathy, Epileptic encephalopathy |
| RS61749041 |
ADAMTS18
|
Health Risk |
Conflicting classifications of pathogenicity |
ADAMTS18-related disorder, Inborn genetic diseases |
| RS61749175 |
ERCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Cockayne syndrome type 2, Age related macular degeneration 5 |
| RS61749179 |
PC
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS61749202 |
ELP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial dysautonomia, ELP1-related disorder |
| RS61749239 |
PLCE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephrotic syndrome, type 3 |
| RS61749249 |
MRE11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS61749266 |
PTPRC
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency 104, Inborn genetic diseases |
| RS61749338 |
LBR
|
Health Risk |
Conflicting classifications of pathogenicity |
Greenberg dysplasia, Connective tissue disorder |
| RS61749351 |
KDM1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS61749355 |
TRIM63
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS61749364 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 3 |
| RS61749366 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61749368 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
von Willebrand disease type 3, von Willebrand disease type 1 |
| RS61749371 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, Hereditary von Willebrand disease |
| RS61749372 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2A, von Willebrand disease type 2 |
| RS61749375 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS61749377 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS61749378 |
VWF
|
Health Risk |
Conflicting classifications of pathogenicity |
von Willebrand disease type 2, Von Willebrand disease type 2B |
| RS61749379 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS61749380 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2M, von Willebrand disease type 2M |
| RS61749384 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2B, Hereditary von Willebrand disease |
| RS61749385 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, VWF-related disorder |
| RS61749386 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 2 |
| RS61749387 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2B, Hereditary von Willebrand disease |
| RS61749388 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS61749389 |
VWF
|
Health Risk |
Pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS61749390 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, Von Willebrand disease type 2B |
| RS61749392 |
VWF
|
Health Risk |
Likely pathogenic |
Von Willebrand disease type 2B, Von Willebrand disease type 2B |
| RS61749393 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2B, Von Willebrand disease type 2B |
| RS61749394 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2B, Von Willebrand disease type 2B |
| RS61749395 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2 |
| RS61749396 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 2, von Willebrand disease type 1 |
| RS61749397 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2B, Hereditary von Willebrand disease |
| RS61749398 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2M, von Willebrand disease type 2 |
| RS61749399 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2M, von Willebrand disease type 2M |
| RS61749400 |
VWF
|
Health Risk |
Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 2 |
| RS61749402 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 2, von Willebrand disease type 1 |
| RS61749403 |
VWF
|
Health Risk |
Pathogenic |
Von Willebrand disease type 2B, Hereditary von Willebrand disease |
| RS61749405 |
VWF
|
Health Risk |
Pathogenic |
von Willebrand disease type 3, von Willebrand disease type 3 |
| RS61749407 |
VWF
|
Health Risk |
Pathogenic/Likely pathogenic |
von Willebrand disease type 1, von Willebrand disease type 1 |
| RS61749408 |
VWF
|
Health Risk |
Likely pathogenic |
Hereditary von Willebrand disease, von Willebrand disease type 2M |
| RS61749409 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61749410 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
ABCA4-related disorder, Retinal dystrophy |
| RS61749412 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Stargardt disease |
| RS61749414 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61749415 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61749416 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS61749417 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61749418 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinitis pigmentosa |
| RS61749420 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3 |
| RS61749422 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61749423 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Benign concentric annular macular dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61749425 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |