| RS398122805 |
SDHB
|
Health Risk |
Pathogenic |
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome |
| RS398122806 |
SURF1
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 1 |
| RS398122808 |
HRAS
|
Health Risk |
Pathogenic |
Costello syndrome, Costello syndrome |
| RS398122809 |
HRAS
|
Health Risk |
Pathogenic |
Costello syndrome, Costello syndrome |
| RS398122810 |
NTRK1
|
Health Risk |
Pathogenic |
Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis |
| RS398122811 |
C6
|
Health Risk |
Pathogenic |
Complement component 6 deficiency, Complement component 6 deficiency |
| RS398122812 |
FLNA
|
Health Risk |
Pathogenic |
Heterotopia, periventricular |
| RS398122813 |
RPS6KA3
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 19 |
| RS398122814 |
GDI1
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 41 |
| RS398122815 |
AKR1C4
|
Health Risk |
risk factor |
46, XY disorder of sex development due to testicular 17 |
| RS398122816 |
H6PD
|
Health Risk |
Pathogenic |
Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS398122817 |
H6PD
|
Health Risk |
Pathogenic |
Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS398122818 |
H6PD
|
Health Risk |
Pathogenic |
Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS398122819 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS398122820 |
B2M
|
Health Risk |
Pathogenic |
Familial visceral amyloidosis, Ostertag type |
| RS398122821 |
COL6A2
|
Health Risk |
Pathogenic |
Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B |
| RS398122822 |
ADAR
|
Health Risk |
Likely pathogenic |
Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6 |
| RS398122823 |
GRIN2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS398122824 |
GRIN2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS398122825 |
GRIN2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS398122826 |
DDHD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS398122827 |
CACNA1D
|
Health Risk |
Pathogenic |
Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness |
| RS398122828 |
COL11A1
|
Health Risk |
Pathogenic |
Marshall syndrome, Inborn genetic diseases |
| RS398122829 |
KDM6A
|
Health Risk |
Pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS398122830 |
CHRNE
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A |
| RS398122831 |
FBN1
|
Health Risk |
Pathogenic |
Progeroid and marfanoid aspect-lipodystrophy syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome |
| RS398122832 |
FBN1
|
Health Risk |
Pathogenic |
Progeroid and marfanoid aspect-lipodystrophy syndrome, Progeroid and marfanoid aspect-lipodystrophy syndrome |
| RS398122833 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Progeroid and marfanoid aspect-lipodystrophy syndrome, Marfan syndrome |
| RS398122834 |
PPIB
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9 |
| RS398122835 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS398122836 |
LRPAP1
|
Health Risk |
Likely pathogenic |
Myopia 23, autosomal recessive |
| RS398122837 |
DDHD2
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS398122838 |
FBXO38
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS398122839 |
SLC25A13
|
Health Risk |
Pathogenic |
Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II |
| RS398122840 |
BAX
|
Health Risk |
Pathogenic |
Carcinoma of colon, T-cell acute lymphoblastic leukemia |
| RS398122843 |
PTH1R
|
Health Risk |
Pathogenic |
Chondrodysplasia Blomstrand type, Chondrodysplasia Blomstrand type |
| RS398122844 |
CASK
|
Health Risk |
Likely pathogenic |
FG syndrome 4, Syndromic X-linked intellectual disability Najm type |
| RS398122845 |
CASK
|
Health Risk |
Pathogenic/Likely pathogenic |
Inability to walk, Dystonic disorder |
| RS398122846 |
DLG3
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 90 |
| RS398122847 |
DLG3
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 90 |
| RS398122848 |
SMPX
|
Health Risk |
Pathogenic |
Hearing loss, X-linked 4 |
| RS398122849 |
SLC9A6
|
Health Risk |
Pathogenic |
Christianson syndrome, Christianson syndrome |
| RS398122850 |
ZIC3
|
Health Risk |
Pathogenic |
VACTERL association, X-linked |
| RS398122851 |
CHRDL1
|
Health Risk |
Pathogenic |
Megalocornea, Megalocornea |
| RS398122852 |
CHRDL1
|
Health Risk |
Pathogenic |
Megalocornea, Megalocornea |
| RS398122853 |
DMD
|
Health Risk |
Pathogenic |
Becker muscular dystrophy, Duchenne muscular dystrophy |
| RS398122854 |
ARX
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 1 |
| RS398122855 |
PRPS1
|
Health Risk |
Pathogenic |
Arts syndrome, Arts syndrome |
| RS398122857 |
PTPN11
|
Health Risk |
Pathogenic |
Metachondromatosis, Metachondromatosis |
| RS398122858 |
PTPN11
|
Health Risk |
Pathogenic |
Metachondromatosis, Metachondromatosis |
| RS398122859 |
PTPN11
|
Health Risk |
Pathogenic |
Metachondromatosis, Metachondromatosis |
| RS398122860 |
PTPN11
|
Health Risk |
Pathogenic |
Metachondromatosis, Metachondromatosis |
| RS398122861 |
PTPN11
|
Health Risk |
Pathogenic |
Metachondromatosis, Metachondromatosis |
| RS398122862 |
PTPN11
|
Health Risk |
Pathogenic |
Metachondromatosis, Metachondromatosis |
| RS398122863 |
CR2
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS398122864 |
CR2
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS398122865 |
SPTAN1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 5 |
| RS398122866 |
OFD1
|
Health Risk |
Pathogenic |
Joubert syndrome 10, Joubert syndrome 10 |
| RS398122867 |
C8B
|
Health Risk |
Pathogenic |
Type II complement component 8 deficiency, Type II complement component 8 deficiency |
| RS398122868 |
C8B
|
Health Risk |
Pathogenic |
Type II complement component 8 deficiency, Type II complement component 8 deficiency |
| RS398122869 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122870 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122871 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122872 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122873 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122874 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122875 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122876 |
NFIX
|
Health Risk |
Pathogenic |
Marshall-Smith syndrome, Marshall-Smith syndrome |
| RS398122877 |
AMER1
|
Health Risk |
Pathogenic |
Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis |
| RS398122878 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS398122879 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS398122880 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS398122881 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS398122882 |
GLI2
|
Health Risk |
Pathogenic |
Holoprosencephaly 9, Holoprosencephaly 9 |
| RS398122883 |
TGFB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4 |
| RS398122884 |
TGFB2
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4 |
| RS398122885 |
TGFB2
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4 |
| RS398122886 |
INSL3
|
Health Risk |
Pathogenic |
Cryptorchidism, Cryptorchidism |
| RS398122887 |
ATP1A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Alternating hemiplegia of childhood 2, Epilepsy |
| RS398122888 |
HDAC8
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 5, HDAC8-related disorder |
| RS398122889 |
SKI
|
Health Risk |
Pathogenic |
Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS398122890 |
IFNGR2
|
Health Risk |
Pathogenic |
Immunodeficiency 28, Immunodeficiency 28 |
| RS398122891 |
BMP1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13 |
| RS398122893 |
ADAR
|
Health Risk |
Pathogenic/Likely pathogenic |
Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS398122894 |
ADAR
|
Health Risk |
Pathogenic/Likely pathogenic |
Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS398122895 |
ADAR
|
Health Risk |
Pathogenic/Likely pathogenic |
Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS398122896 |
ADAR
|
Health Risk |
Pathogenic/Likely pathogenic |
Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS398122897 |
ADAR
|
Health Risk |
Pathogenic/Likely pathogenic |
Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS398122898 |
ADAR
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6 |
| RS398122899 |
GLI3
|
Health Risk |
Pathogenic |
Postaxial polydactyly, type A1/B |
| RS398122900 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122901 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122902 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122903 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122904 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122905 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS398122906 |
OPLAH
|
Health Risk |
Pathogenic |
5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency |
| RS398122907 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS398122908 |
HCFC1
|
Health Risk |
Pathogenic |
Methylmalonic acidemia with homocystinuria, type cblX |
| RS398122909 |
HDAC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cornelia de Lange syndrome 5, Intellectual disability |