| RS2537368917 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537369033 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537369185 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537371206 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
SYNGAP1-related disorder, SYNGAP1-related disorder |
| RS2537371782 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537374056 |
SMARCA2
|
Health Risk |
Likely pathogenic |
SMARCA2-related disorder, SMARCA2-related disorder |
| RS2537379809 |
SMARCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Blepharophimosis-impaired intellectual development syndrome, Blepharophimosis-impaired intellectual development syndrome |
| RS2537379834 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537380561 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2537380867 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS2537381213 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2537382687 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2537385296 |
CPSF1
|
Health Risk |
Likely pathogenic |
Myopia 27, Myopia 27 |
| RS2537388889 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS2537388913 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537389235 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537389782 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537390164 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537390996 |
WASHC5
|
Health Risk |
Pathogenic |
Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 1 |
| RS2537391175 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537391376 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Seizure, Intellectual disability |
| RS2537391465 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2537391937 |
SMARCA2
|
Health Risk |
Likely pathogenic |
— |
| RS2537392050 |
SMARCA2
|
Health Risk |
Likely pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537392581 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537392739 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537393016 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537393350 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537394339 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537394538 |
BBS9
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS2537394579 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2537396361 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537396400 |
BBS9
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2537396838 |
BBS9
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2537397002 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537397055 |
SYNGAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 5 |
| RS2537397359 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537397399 |
SYNGAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 5 |
| RS2537397668 |
SYNGAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 5 |
| RS2537397747 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537397972 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537398099 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537398102 |
KCNQ3
|
Health Risk |
Conflicting classifications of pathogenicity |
KCNQ3-associated disorder, KCNQ3-associated disorder |
| RS2537398144 |
KCNQ3
|
Health Risk |
Pathogenic |
Benign neonatal seizures, Benign neonatal seizures |
| RS2537402199 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537404214 |
SMARCA2
|
Health Risk |
Pathogenic |
— |
| RS2537404828 |
SMARCA2
|
Health Risk |
Pathogenic |
Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome |
| RS2537422083 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537422319 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537422683 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2537425842 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537425991 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537427553 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537428025 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
— |
| RS2537428137 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537428181 |
SLC39A4
|
Health Risk |
Likely pathogenic |
— |
| RS2537428279 |
PLEC
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 5C, with pyloric atresia |
| RS2537428688 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537428786 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537428845 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537429585 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537429685 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537429817 |
SLC39A4
|
Health Risk |
Likely pathogenic |
— |
| RS2537429945 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537430403 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537430548 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537430732 |
DOCK8
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS2537431100 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537431345 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537431679 |
SLC39A4
|
Health Risk |
Likely pathogenic |
— |
| RS2537431869 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537432050 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537433619 |
PLEC
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C |
| RS2537433762 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537434438 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537435642 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537435867 |
SLC39A4
|
Health Risk |
Likely pathogenic |
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS2537436586 |
DOCK8
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS2537437189 |
DOCK8
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency |
| RS2537438002 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537438572 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537440099 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537440313 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537440326 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537440332 |
SLC39A4
|
Health Risk |
Pathogenic |
— |
| RS2537440685 |
SLC39A4
|
Health Risk |
Pathogenic |
Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica |
| RS2537444100 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537444256 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537444395 |
SYNGAP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2537445488 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
SYNGAP1-related disorder, SYNGAP1-related disorder |
| RS2537445871 |
SYNGAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 5 |
| RS2537446130 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537446428 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537447093 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537447395 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537447986 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537447997 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537449413 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537449548 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS2537449694 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |