| RS61754427 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61754428 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61754430 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61754431 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61754432 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61754436 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61754437 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61754438 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61754441 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61754447 |
MECP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61754448 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61754452 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61754453 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Angelman syndrome |
| RS61754455 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS61754456 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61754457 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome |
| RS61754458 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61754459 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61754478 |
SACS
|
Health Risk |
Conflicting classifications of pathogenicity |
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS61754490 |
SERPINA7
|
Health Risk |
Pathogenic |
Thyroxine-binding globulin, Chicago |
| RS61754503 |
VPS13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Cohen syndrome, Inborn genetic diseases |
| RS61754525 |
MED17
|
Health Risk |
Conflicting classifications of pathogenicity |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Ovarian serous cystadenocarcinoma |
| RS61754534 |
VCAN
|
Health Risk |
Conflicting classifications of pathogenicity |
Vitreoretinopathy, Wagner disease |
| RS61754582 |
GDF9
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61754634 |
GPI
|
Health Risk |
Conflicting classifications of pathogenicity |
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS61754640 |
GPSM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Chudley-McCullough syndrome, Melanoma |
| RS61754767 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Autoinflammatory syndrome |
| RS61754769 |
MLH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS61754780 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS61754783 |
MSH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS61754796 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Microcephaly |
| RS61754850 |
ADAMTS7
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61754865 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS61754921 |
PKDCC
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, PKDCC-related disorder |
| RS61754966 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Aplastic anemia, Leukemia |
| RS61754967 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Microcephaly |
| RS61754978 |
TGS1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61754979 |
TGS1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS61755039 |
NIPBL
|
Health Risk |
Conflicting classifications of pathogenicity |
Cornelia de Lange syndrome 1, NIPBL-related disorder |
| RS61755062 |
NDRG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D |
| RS61755173 |
PALB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS61755182 |
NOD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blau syndrome, Inflammatory bowel disease 1 |
| RS61755320 |
SPG7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 7, Spastic Paraplegia |
| RS61755357 |
DDX3X
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 102 |
| RS61755444 |
PLCG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 3, Acute myeloid leukemia |
| RS61755579 |
SOS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Noonan syndrome 9, Noonan syndrome 9 |
| RS61755595 |
WNK4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS61755600 |
WNK4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS61755602 |
WNK4
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS61755607 |
WNK4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS61755628 |
WNK4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pseudohypoaldosteronism type 2B, Inborn genetic diseases |
| RS61755653 |
MLH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS61755705 |
HIF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Maffucci syndrome, Maffucci syndrome |
| RS61755731 |
HSPD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Spastic paraplegia, Spastic paraplegia |
| RS61755760 |
MECP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Rett syndrome, Syndromic X-linked intellectual disability Lubs type |
| RS61755761 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61755762 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS61755763 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS61755765 |
PRPH2
|
Health Risk |
Pathogenic |
Retinitis punctata albescens, autosomal dominant |
| RS61755766 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, PRPH2-related disorder |
| RS61755767 |
PRPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
PRPH2-related disorder, Stargardt disease |
| RS61755768 |
PRPH2
|
Health Risk |
Pathogenic |
PRPH2-related disorder, PRPH2-related disorder |
| RS61755769 |
PRPH2
|
Health Risk |
Pathogenic |
Retinal dystrophy, Stargardt disease |
| RS61755771 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 7, PRPH2-related disorder |
| RS61755774 |
PRPH2
|
Health Risk |
Likely pathogenic |
PRPH2-related disorder, PRPH2-related disorder |
| RS61755775 |
PRPH2
|
Health Risk |
Pathogenic |
PRPH2-related disorder, Choroidal dystrophy |
| RS61755776 |
PRPH2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, PRPH2-related disorder |
| RS61755777 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 7, Retinitis pigmentosa 7 |
| RS61755778 |
PRPH2
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS61755780 |
PRPH2
|
Health Risk |
Likely pathogenic |
PRPH2-related disorder, Retinal dystrophy |
| RS61755781 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Patterned macular dystrophy 1, PRPH2-related disorder |
| RS61755783 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Choroidal dystrophy, central areolar 2 |
| RS61755784 |
PRPH2
|
Health Risk |
Pathogenic |
maculopathy, Stargardt disease |
| RS61755785 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
PRPH2-related disorder, Retinitis pigmentosa |
| RS61755786 |
PRPH2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 7, Patterned macular dystrophy 1 |
| RS61755787 |
PRPH2
|
Health Risk |
Likely pathogenic |
Blurred vision, Abnormal retinal pigmentation |
| RS61755788 |
PRPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
PRPH2-related disorder, Retinitis pigmentosa |
| RS61755789 |
PRPH2
|
Health Risk |
Likely pathogenic |
Patterned macular dystrophy 1, PRPH2-related disorder |
| RS61755790 |
PRPH2
|
Health Risk |
Likely pathogenic |
— |
| RS61755792 |
PRPH2
|
Health Risk |
Likely pathogenic |
Choroidal dystrophy, central areolar 2 |
| RS61755793 |
PRPH2
|
Health Risk |
Likely pathogenic |
Choroidal dystrophy, central areolar 2 |
| RS61755794 |
PRPH2
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 7, PRPH2-related disorder |
| RS61755795 |
PRPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
PRPH2-related disorder, Retinitis pigmentosa 7 |
| RS61755796 |
PRPH2
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, PRPH2-related disorder |
| RS61755797 |
PRPH2
|
Health Risk |
Pathogenic |
Vitelliform macular dystrophy 2, PRPH2-related disorder |
| RS61755798 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
PRPH2-related disorder, Patterned dystrophy of the retinal pigment epithelium |
| RS61755799 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
PRPH2-related disorder, PRPH2-related disorder |
| RS61755800 |
PRPH2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, PRPH2-related disorder |
| RS61755801 |
PRPH2
|
Health Risk |
Likely pathogenic |
Patterned macular dystrophy 1, Retinal dystrophy |
| RS61755802 |
PRPH2
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 18, Patterned macular dystrophy 1 |
| RS61755803 |
PRPH2
|
Health Risk |
Likely pathogenic |
PRPH2-related disorder, Retinal dystrophy |
| RS61755804 |
PRPH2
|
Health Risk |
Pathogenic |
PRPH2-related disorder, PRPH2-related disorder |
| RS61755805 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa, PRPH2-related disorder |
| RS61755806 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 7, Retinal dystrophy |
| RS61755807 |
PRPH2
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 7, Retinitis pigmentosa 7 |
| RS61755808 |
PRPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
PRPH2-related disorder, Retinal dystrophy |
| RS61755809 |
PRPH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Macular dystrophy, Retinal dystrophy |
| RS61755810 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa, Retinal dystrophy |
| RS61755811 |
PRPH2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinal dystrophy |
| RS61755812 |
PRPH2
|
Health Risk |
Pathogenic |
— |