| RS1554121682 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121684 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121685 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554121691 |
SH3TC2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554121729 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554121777 |
SH3TC2
|
Health Risk |
Likely pathogenic |
— |
| RS1554121853 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121861 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121872 |
CAMK2A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 53 |
| RS1554121875 |
CAMK2A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 53 |
| RS1554121878 |
CAMK2A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 53 |
| RS1554121924 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121932 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121934 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121947 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1554121960 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554121970 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122080 |
SYNGAP1
|
Health Risk |
Pathogenic |
Seizure, Seizure |
| RS1554122123 |
CAMK2A
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1554122129 |
CAMK2A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 53 |
| RS1554122179 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1554122191 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122196 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1554122200 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122236 |
SYNGAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 5 |
| RS1554122242 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122243 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122244 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122249 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122252 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Developmental disorder |
| RS1554122276 |
SYNGAP1;SYNGAP1-AS1
|
Health Risk |
Likely pathogenic |
— |
| RS1554122287 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122289 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1554122293 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122294 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1554122296 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122305 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122341 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122346 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122348 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1554122363 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122368 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122400 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122402 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Complex neurodevelopmental disorder |
| RS1554122455 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Complex neurodevelopmental disorder, Intellectual disability |
| RS1554122457 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1554122458 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Intellectual disability |
| RS1554122470 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122478 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122483 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122526 |
CAMK2A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 53 |
| RS1554122541 |
SH3TC2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1554122550 |
FBN2
|
Health Risk |
Pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1554122560 |
SH3TC2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554122689 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122710 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554122729 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Intellectual disability |
| RS1554122735 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122749 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122750 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122763 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554122802 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1554122847 |
SH3TC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554122857 |
FBN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection |
| RS1554122858 |
FBN2
|
Health Risk |
Likely pathogenic |
— |
| RS1554122888 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1554122896 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection |
| RS1554122897 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1554122907 |
TUBB2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 5 |
| RS1554122911 |
TUBB2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1554122947 |
TUBB2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1554122948 |
TUBB2A
|
Health Risk |
Likely pathogenic |
— |
| RS1554122959 |
TUBB2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Complex cortical dysplasia with other brain malformations 5, Complex cortical dysplasia with other brain malformations 5 |
| RS1554122973 |
SH3TC2
|
Health Risk |
Likely pathogenic |
— |
| RS1554123064 |
FBN2
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1554123065 |
FBN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital contractural arachnodactyly, Macular degeneration |
| RS1554123136 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, FBN2-related disorder |
| RS1554123139 |
FBN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1554123627 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS1554123960 |
CNPY3
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 60 |
| RS1554123982 |
CAMK2A
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS1554124086 |
ADAMTS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS1554125059 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS1554125179 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS1554125521 |
TULP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa 14 |
| RS1554125752 |
TULP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa, Leber congenital amaurosis |
| RS1554125882 |
RUNX2
|
Health Risk |
Pathogenic |
— |
| RS1554126798 |
PEX6
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B |
| RS1554126803 |
PEX6
|
Health Risk |
Conflicting classifications of pathogenicity |
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS1554126865 |
TUBB2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS1554126886 |
TUBB2B
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 7, Lissencephaly |
| RS1554126902 |
TUBB2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS1554126925 |
TUBB2B
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS1554126955 |
PEX6
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B |
| RS1554126964 |
TUBB2B
|
Health Risk |
Likely pathogenic |
— |
| RS1554126965 |
PEX6
|
Health Risk |
Likely pathogenic |
Heimler syndrome 2, Heimler syndrome 2 |
| RS1554127383 |
PEX6
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B |
| RS1554127389 |
PEX6
|
Health Risk |
Conflicting classifications of pathogenicity |
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B |
| RS1554127415 |
PEX6
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B |
| RS1554127491 |
PEX6
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |