| RS2092035920 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092038810 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092039557 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2092039663 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092046394 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092047055 |
PKD1
|
Health Risk |
Likely pathogenic |
Autosomal dominant polycystic kidney disease, Polycystic kidney disease |
| RS2092048798 |
PKD1
|
Health Risk |
Likely pathogenic |
Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS2092049440 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092051851 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092054613 |
ADARB1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, microcephaly |
| RS2092059385 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2092061253 |
ANK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Cardiac arrhythmia |
| RS2092066056 |
TTN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2092117117 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2092119222 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092119998 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092121151 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2092127553 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2092138707 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092142348 |
SSR4
|
Health Risk |
Pathogenic |
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS2092142482 |
PKD1
|
Health Risk |
Likely pathogenic |
— |
| RS2092148846 |
SSR4
|
Health Risk |
Pathogenic |
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS2092151870 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092153679 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2092154654 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092156841 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092169389 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2092170508 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2092177236 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092179583 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092189640 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092191294 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092196354 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092196755 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092200060 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092202749 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092202856 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092203060 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092203712 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092204260 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092204417 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS2092205152 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2092205600 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092206577 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092208616 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2092209337 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2092209753 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092209876 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2092210085 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2092211777 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2092213253 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2092231526 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2092244236 |
UNC45B
|
Health Risk |
Likely pathogenic |
Myofibrillar myopathy 11, Myofibrillar myopathy 11 |
| RS2092255386 |
IL2RG
|
Health Risk |
Likely pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092258151 |
IL2RG
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2092258288 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092260381 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092260520 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092260648 |
IL2RG
|
Health Risk |
Likely pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092260728 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092261278 |
IL2RG
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092261313 |
IL2RG
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency, X-linked |
| RS2092261347 |
IL2RG
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092261618 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092262300 |
IL2RG
|
Health Risk |
Pathogenic |
Combined immunodeficiency, X-linked |
| RS2092262517 |
IL2RG
|
Health Risk |
Likely pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092262555 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092262890 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092263697 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092263886 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092267612 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiomyopathy |
| RS2092298537 |
LOC101927055;TTN
|
Health Risk |
Likely pathogenic |
— |
| RS2092301217 |
MED12
|
Health Risk |
Conflicting classifications of pathogenicity |
FG syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2092301272 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092302256 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092302661 |
CSF2RA
|
Health Risk |
Pathogenic |
Surfactant metabolism dysfunction, pulmonary |
| RS2092303356 |
MED12
|
Health Risk |
Likely pathogenic |
X-linked intellectual disability with marfanoid habitus, X-linked intellectual disability with marfanoid habitus |
| RS2092305301 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092313037 |
MED12
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2092317530 |
MED12
|
Health Risk |
Likely pathogenic |
FG syndrome, FG syndrome |
| RS2092318339 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2092319664 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092319756 |
MED12
|
Health Risk |
Conflicting classifications of pathogenicity |
FG syndrome, FG syndrome |
| RS2092320033 |
MED12
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked intellectual disability with marfanoid habitus, Blepharophimosis - intellectual disability syndrome |
| RS2092321142 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092321430 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092322668 |
PKD1
|
Health Risk |
Likely pathogenic |
— |
| RS2092323164 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS2092323231 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092327300 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092333189 |
MED12
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, FG syndrome |
| RS2092333316 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092334822 |
MED12
|
Health Risk |
Likely pathogenic |
Blepharophimosis - intellectual disability syndrome, MKB type |
| RS2092335044 |
MED12
|
Health Risk |
Pathogenic |
MED12-related disorder, MED12-related disorder |
| RS2092336597 |
MED12
|
Health Risk |
Conflicting classifications of pathogenicity |
FG syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2092337963 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant polycystic kidney disease, PKD1-related disorder |
| RS2092338268 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092340224 |
DYSF
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2092340623 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS2092340996 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |