| RS61751362 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Autism |
| RS61751364 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61751367 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61751370 |
MECP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Rett syndrome, Autism |
| RS61751373 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61751374 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3 |
| RS61751376 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal disorder, Retinal disorder |
| RS61751377 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751381 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61751383 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, early-onset severe |
| RS61751384 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751385 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751386 |
ABCA4
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 19, Retinitis pigmentosa 19 |
| RS61751388 |
ABCA4
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 19, Cone-rod dystrophy 3 |
| RS61751389 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751391 |
ABCA4
|
Health Risk |
Pathogenic |
— |
| RS61751392 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751393 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751394 |
ABCA4
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61751395 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751396 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
ABCA4-related disorder, Retinal dystrophy |
| RS61751397 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751398 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Age related macular degeneration 2 |
| RS61751399 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa |
| RS61751400 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61751401 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61751402 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751403 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751404 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic; other |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61751405 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751406 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS61751407 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy |
| RS61751408 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3 |
| RS61751409 |
ABCA4
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61751410 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751411 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |
| RS61751412 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Stargardt disease, Severe early-childhood-onset retinal dystrophy |
| RS61751413 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61751418 |
ABCA4
|
Health Risk |
Likely pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS61751419 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Cone-rod dystrophy 3, Age related macular degeneration 2 |
| RS61751420 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinal dystrophy |
| RS61751439 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome |
| RS61751440 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61751441 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61751443 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, Neurodevelopmental disorder |
| RS61751444 |
MECP2
|
Health Risk |
Pathogenic |
X-linked intellectual disability-psychosis-macroorchidism syndrome, Autism |
| RS61751449 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome |
| RS61751450 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61751456 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61751457 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61751462 |
MMP20
|
Health Risk |
Conflicting classifications of pathogenicity |
Amelogenesis imperfecta hypomaturation type 2A2, Inborn genetic diseases |
| RS61751491 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection |
| RS61751493 |
PLCE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephrotic syndrome, type 3 |
| RS61751494 |
PLCE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephrotic syndrome, type 3 |
| RS61751497 |
PLCE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephrotic syndrome, type 3 |
| RS61751498 |
PLCE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephrotic syndrome, type 3 |
| RS61751541 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Aortic valve disease 1 |
| RS61751544 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Aortic valve disease 1 |
| RS61751555 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection |
| RS61751556 |
NOTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection |
| RS61751577 |
FANCD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Fanconi anemia complementation group D2 |
| RS61751594 |
CENPE
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61751635 |
TOP2B
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61751644 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS61751705 |
LAMA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome |
| RS61751710 |
LIFR
|
Health Risk |
Conflicting classifications of pathogenicity |
Stuve-Wiedemann syndrome, Inborn genetic diseases |
| RS61751712 |
LIFR
|
Health Risk |
Conflicting classifications of pathogenicity |
Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1 |
| RS61751728 |
FRMD7
|
Health Risk |
Conflicting classifications of pathogenicity |
Nystagmus 1, congenital |
| RS61751735 |
LRIG2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61751955 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS61751972 |
DGKE
|
Health Risk |
Conflicting classifications of pathogenicity |
DGKE-related disorder, Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| RS61752060 |
CDKL5;RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS61752062 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Juvenile retinoschisis |
| RS61752063 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Retinal dystrophy |
| RS61752064 |
RS1
|
Health Risk |
Pathogenic |
— |
| RS61752065 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61752067 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Retinal dystrophy |
| RS61752068 |
RS1
|
Health Risk |
Likely pathogenic |
Juvenile retinoschisis, Retinal dystrophy |
| RS61752069 |
RS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS61752071 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61752072 |
RS1
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61752075 |
RS1
|
Health Risk |
Pathogenic |
Retinoschisis, Juvenile retinoschisis |
| RS61752092 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger) |
| RS61752093 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger) |
| RS61752094 |
PEX10
|
Health Risk |
Conflicting classifications of pathogenicity |
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B |
| RS61752095 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6B |
| RS61752096 |
PEX10
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS61752097 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisomal biogenesis disorder 3b, Peroxisomal biogenesis disorder 3b |
| RS61752099 |
PEX12
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger) |
| RS61752100 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger) |
| RS61752101 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger) |
| RS61752102 |
PEX12
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS61752103 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisomal biogenesis disorder 3b |
| RS61752104 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger) |
| RS61752105 |
PEX12
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS61752106 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS61752107 |
PEX12
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger) |
| RS61752108 |
PEX12
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS61752109 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder |
| RS61752111 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger) |