| RS2092341848 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092343409 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1 |
| RS2092343570 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092343785 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092344562 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092344930 |
DYSF
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2092345946 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092347343 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092347481 |
MED12
|
Health Risk |
Likely pathogenic |
Blepharophimosis - intellectual disability syndrome, MKB type |
| RS2092347488 |
MED12
|
Health Risk |
Pathogenic/Likely pathogenic |
X-linked intellectual disability with marfanoid habitus, FG syndrome |
| RS2092356759 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092358825 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092360420 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2092361815 |
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 |
| RS2092363086 |
FANCB
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group B, VACTERL association |
| RS2092366383 |
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 |
| RS2092369130 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2092369866 |
PHF21A
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Inborn genetic diseases |
| RS2092371566 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2092384255 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2092387027 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2092391598 |
LMOD3
|
Health Risk |
Pathogenic |
Nemaline myopathy 10, Nemaline myopathy 10 |
| RS2092396963 |
LMOD3
|
Health Risk |
Pathogenic |
Nemaline myopathy 10, Nemaline myopathy 10 |
| RS2092400157 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092401442 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092402238 |
PKD1
|
Health Risk |
Likely pathogenic |
— |
| RS2092412254 |
LMOD3
|
Health Risk |
Pathogenic |
Nemaline myopathy 10, Nemaline myopathy 10 |
| RS2092413018 |
LMOD3
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 10, Nemaline myopathy 10 |
| RS2092414327 |
CNKSR2
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked |
| RS2092417183 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092420672 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092423837 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic liver disease 1 |
| RS2092425533 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092427197 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant polycystic kidney disease, PKD1-related disorder |
| RS2092427579 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092431000 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092433535 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092433875 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092434606 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
PKD1-related disorder, Polycystic kidney disease |
| RS2092437527 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092438025 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092439541 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092440281 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092440406 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092440563 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092443264 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092444151 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092446218 |
DPP9
|
Health Risk |
Conflicting classifications of pathogenicity |
Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome |
| RS2092446562 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092447380 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092450284 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092452089 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092452489 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092454886 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092456617 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, PKD1-related disorder |
| RS2092458566 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092460002 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092460746 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092471431 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092474542 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092477162 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092478372 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092478837 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092479999 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092480152 |
CNKSR2
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2092480172 |
CNKSR2
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked |
| RS2092481936 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092482302 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS2092484442 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092485664 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092485909 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092486975 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092487764 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092491511 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092500037 |
PKD1
|
Health Risk |
Pathogenic |
PKD1-related disorder, Polycystic kidney disease |
| RS2092501540 |
PKD1
|
Health Risk |
Pathogenic |
— |
| RS2092501574 |
PKD1
|
Health Risk |
Likely pathogenic |
— |
| RS2092501936 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092501974 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS2092503094 |
KMT2C
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2092503169 |
PKD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092503653 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092505450 |
PKD1
|
Health Risk |
Likely pathogenic |
— |
| RS2092506242 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092506499 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092507274 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092522027 |
KCNMA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Liang-Wang syndrome, Liang-Wang syndrome |
| RS2092524250 |
UNC80
|
Health Risk |
Pathogenic |
Hypotonia, infantile |
| RS2092536098 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, Polycystic kidney disease |
| RS2092536130 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092538008 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS2092538738 |
PKD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease, adult type |
| RS2092541958 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS2092542021 |
GJB1
|
Health Risk |
Pathogenic |
— |
| RS2092542190 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092542575 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092542885 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092542986 |
GJB1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2092543211 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |
| RS2092543301 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X |