| RS2469907372 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2469908116 |
CUL3
|
Health Risk |
Pathogenic |
— |
| RS2469908727 |
COL4A3
|
Health Risk |
Likely pathogenic |
Alport syndrome, Alport syndrome |
| RS2469908814 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469909195 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469909789 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469910358 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469910738 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469913984 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469916604 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Alport syndrome, Alport syndrome |
| RS2469916631 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469916694 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469916768 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2469917312 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469919171 |
CUL3
|
Health Risk |
Pathogenic |
— |
| RS2469928713 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469929211 |
COL6A3
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469930740 |
COL4A3
|
Health Risk |
Likely pathogenic |
Alport syndrome 3b, autosomal recessive |
| RS2469930892 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469930937 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469931435 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2469931914 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469932773 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469932873 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469933167 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469936841 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469936865 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469937169 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2469937391 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469937564 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469937744 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469937825 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469937855 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469938889 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469939276 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469939374 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469943073 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469946548 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469946754 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469949831 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469950079 |
COL4A3
|
Health Risk |
Likely pathogenic |
COL4A3-related disorder, COL4A3-related disorder |
| RS2469950127 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469953279 |
ITPR1
|
Health Risk |
Likely pathogenic |
Bilateral congenital mydriasis, Bilateral congenital mydriasis |
| RS2469955401 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469957229 |
CUL3
|
Health Risk |
Pathogenic |
— |
| RS2469957330 |
CUL3
|
Health Risk |
Likely pathogenic |
Pseudohypoaldosteronism type 2E, Neurodevelopmental disorder with or without autism or seizures |
| RS2469959812 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2469965228 |
FANCD2
|
Health Risk |
Likely pathogenic |
FANCD2-related disorder, FANCD2-related disorder |
| RS2469965487 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469966681 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2469966729 |
FANCD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group D2 |
| RS2469968584 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469968826 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469968856 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469971419 |
CUL3
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469972032 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469972086 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469973914 |
CUL3
|
Health Risk |
Pathogenic |
— |
| RS2469974019 |
CUL3
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469974393 |
CUL3
|
Health Risk |
Pathogenic |
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E |
| RS2469975035 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469975881 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469975972 |
FANCD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group D2 |
| RS2469976033 |
FANCD2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2469976074 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2469979316 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469981132 |
CUL3
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469981918 |
CUL3
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469982052 |
CUL3
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469982239 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469982350 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469982362 |
DIS3L2
|
Health Risk |
Likely pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469984456 |
CUL3
|
Health Risk |
Pathogenic |
— |
| RS2469984770 |
CUL3
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469984881 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469992237 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2469993551 |
FANCD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia |
| RS2469993783 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2469995456 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469995857 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469995885 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469996142 |
CUL3
|
Health Risk |
Likely pathogenic |
— |
| RS2469996846 |
FANCD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia |
| RS2469997112 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2469997179 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469997242 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469997346 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469997398 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2469998833 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470000000 |
ERBB4
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2470000841 |
NDUFS1
|
Health Risk |
Likely pathogenic |
NDUFS1-related disorder, NDUFS1-related disorder |
| RS2470001056 |
CUL3
|
Health Risk |
Pathogenic |
CUL3-related disorder, CUL3-related disorder |
| RS2470001163 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2470001180 |
CUL3
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2470003952 |
CUL3
|
Health Risk |
Pathogenic |
— |
| RS2470003978 |
CASP8
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B |
| RS2470004236 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2470005127 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470005907 |
CASP8
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B |
| RS2470006009 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |