| RS2485401740 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485401803 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485401809 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2485401916 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485402330 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485402405 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485402669 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485410329 |
AGK
|
Health Risk |
Likely pathogenic |
Sengers syndrome, Cataract 38 |
| RS2485410335 |
AGK
|
Health Risk |
Likely pathogenic |
Sengers syndrome, Cataract 38 |
| RS2485417977 |
CUX1
|
Health Risk |
Pathogenic |
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485418253 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485420226 |
TSPAN12
|
Health Risk |
Pathogenic |
— |
| RS2485423018 |
TSPAN12
|
Health Risk |
Pathogenic |
— |
| RS2485434682 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485434733 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485434750 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485434788 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485434813 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485435041 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS2485435227 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS2485436780 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485436810 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485437004 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485437077 |
POT1
|
Health Risk |
Pathogenic/Likely pathogenic |
High-grade astrocytoma with piloid features, Tumor predisposition syndrome 3 |
| RS2485437209 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485437241 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485437743 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485441296 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485441329 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2485441592 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485441799 |
POT1
|
Health Risk |
Pathogenic |
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related |
| RS2485441911 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2485442443 |
FOXP2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2485442559 |
FOXP2
|
Health Risk |
Pathogenic |
— |
| RS2485444292 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS2485444450 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myotonia, autosomal recessive form |
| RS2485444714 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485444768 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485445933 |
LEP
|
Health Risk |
Pathogenic |
Leptin dysfunction, Obesity due to congenital leptin deficiency |
| RS2485448093 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485448281 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS2485448381 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS2485448490 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485448767 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS2485449460 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myotonia, autosomal recessive form |
| RS2485449620 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485451259 |
ELN
|
Health Risk |
Likely pathogenic |
ELN-related disorder, ELN-related disorder |
| RS2485460699 |
TSPAN12
|
Health Risk |
Likely pathogenic |
Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5 |
| RS2485462874 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485464100 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485465829 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, Cataract 38 |
| RS2485468089 |
SLC26A5
|
Health Risk |
Pathogenic |
— |
| RS2485473836 |
CUX1
|
Health Risk |
Likely pathogenic |
CUX1-related disorder, CUX1-related disorder |
| RS2485474457 |
FOXP2
|
Health Risk |
Likely pathogenic |
Childhood apraxia of speech, Childhood apraxia of speech |
| RS2485475379 |
CUX1
|
Health Risk |
Likely pathogenic |
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485479240 |
POT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Tumor predisposition syndrome 3, Long telomere syndrome |
| RS2485479361 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485479643 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Long telomere syndrome |
| RS2485479761 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485480193 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2485480571 |
FOXP2
|
Health Risk |
Likely pathogenic |
FOXP2-related disorder, FOXP2-related disorder |
| RS2485480737 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485480756 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485480857 |
FOXP2
|
Health Risk |
Pathogenic |
Childhood apraxia of speech, Childhood apraxia of speech |
| RS2485481246 |
POT1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485481376 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2485481540 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485481564 |
POT1
|
Health Risk |
Likely pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485493224 |
FOXP2
|
Health Risk |
Likely pathogenic |
Childhood apraxia of speech, Childhood apraxia of speech |
| RS2485501462 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, Cataract 38 |
| RS2485504867 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485505108 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485505163 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Renal cell carcinoma |
| RS2485505371 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485516621 |
ELN
|
Health Risk |
Likely pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485516681 |
DLX5
|
Health Risk |
Likely pathogenic |
DLX5-related disorder, DLX5-related disorder |
| RS2485518349 |
CUX1
|
Health Risk |
Likely pathogenic |
CUX1-related disorder, CUX1-related disorder |
| RS2485518873 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485519560 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2485520889 |
DLX5
|
Health Risk |
Likely pathogenic |
Split hand-foot malformation 1, Split hand-foot malformation 1 |
| RS2485521415 |
DLX5
|
Health Risk |
Likely pathogenic |
DLX5-related disorder, DLX5-related disorder |
| RS2485541223 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS2485541368 |
SLC25A13
|
Health Risk |
Likely pathogenic |
Citrin deficiency, Citrin deficiency |
| RS2485541466 |
SLC25A13
|
Health Risk |
Likely pathogenic |
Citrullinemia, type II |
| RS2485541958 |
SLC25A13
|
Health Risk |
Pathogenic |
Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency |
| RS2485542562 |
SLC25A13
|
Health Risk |
Likely pathogenic |
Citrin deficiency, Citrin deficiency |
| RS2485542638 |
SLC25A13
|
Health Risk |
Pathogenic |
Citrullinemia, type II |
| RS2485543139 |
SLC25A13
|
Health Risk |
Pathogenic/Likely pathogenic |
Citrullinemia, type II |
| RS2485543530 |
SLC25A13
|
Health Risk |
Pathogenic |
Citrin deficiency, Citrin deficiency |
| RS2485543587 |
SLC25A13
|
Health Risk |
Likely pathogenic |
Citrullinemia, type II |
| RS2485543716 |
SLC25A13
|
Health Risk |
Pathogenic/Likely pathogenic |
Citrin deficiency, Citrullinemia type II |
| RS2485543774 |
SLC25A13
|
Health Risk |
Likely pathogenic |
Citrullinemia, type II |
| RS2485543807 |
SLC25A13
|
Health Risk |
Pathogenic |
Citrullinemia, type II |
| RS2485547571 |
CNTNAP2
|
Health Risk |
Likely pathogenic |
Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome |
| RS2485556440 |
KIAA1549
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 86, Retinitis pigmentosa 86 |
| RS2485557946 |
KIAA1549
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 86, Retinitis pigmentosa 86 |
| RS2485558000 |
KIAA1549
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2485562452 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2485562504 |
POT1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485562891 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |