| RS121907967 |
HEXA
|
Health Risk |
Likely pathogenic |
GM2-GANGLIOSIDOSIS, B1 VARIANT |
| RS121907969 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS121907971 |
HEXA
|
Health Risk |
Pathogenic/Likely pathogenic |
Tay-Sachs disease, B1 variant |
| RS121907972 |
HEXA
|
Health Risk |
Pathogenic/Likely pathogenic |
Tay-Sachs disease, Inborn genetic diseases |
| RS121907973 |
HEXA
|
Health Risk |
Conflicting classifications of pathogenicity |
Tay-Sachs disease, Tay-Sachs disease |
| RS121907974 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS121907975 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS121907976 |
HEXA
|
Health Risk |
Conflicting classifications of pathogenicity |
Tay-Sachs disease, Tay-Sachs disease |
| RS121907977 |
HEXA
|
Health Risk |
Conflicting classifications of pathogenicity |
Tay-Sachs disease, variant AB |
| RS121907978 |
HEXA
|
Health Risk |
Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS121907980 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, HEXA-related disorder |
| RS121907981 |
HEXA
|
Health Risk |
Pathogenic/Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS121907983 |
HEXB
|
Health Risk |
Likely pathogenic |
Sandhoff disease, adult form |
| RS121907985 |
HEXB
|
Health Risk |
Pathogenic/Likely pathogenic |
Sandhoff disease, chronic |
| RS121907986 |
HEXB
|
Health Risk |
Pathogenic |
Sandhoff disease, infantile form |
| RS121907987 |
PHGDH
|
Health Risk |
Pathogenic/Likely pathogenic |
PHGDH deficiency, See cases |
| RS121907988 |
PHGDH
|
Health Risk |
Conflicting classifications of pathogenicity |
PHGDH deficiency, Neu-Laxova syndrome 1 |
| RS121907990 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Inborn genetic diseases |
| RS121907992 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS121907993 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Inborn genetic diseases |
| RS121907994 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS121907996 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, ATP7B-related disorder |
| RS121907997 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS121907998 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Inborn genetic diseases |
| RS121907999 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS121908000 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS121908001 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS121908002 |
IRAK4
|
Health Risk |
Pathogenic |
Immunodeficiency 67, IRAK4-related disorder |
| RS121908003 |
ACADS
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder |
| RS121908004 |
ACADS
|
Health Risk |
Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS121908006 |
ACADS
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS121908007 |
SUOX
|
Health Risk |
Pathogenic/Likely pathogenic |
Sulfite oxidase deficiency, Sulfite oxidase deficiency |
| RS121908009 |
SUOX
|
Health Risk |
Likely pathogenic |
Sulfite oxidase deficiency, Sulfocysteinuria |
| RS121908010 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS121908011 |
TYR
|
Health Risk |
Pathogenic |
Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B |
| RS121908012 |
UROS
|
Health Risk |
Pathogenic |
Cutaneous porphyria, UROS-related disorder |
| RS121908013 |
UROS
|
Health Risk |
Pathogenic |
Cutaneous porphyria, Cutaneous porphyria |
| RS121908014 |
UROS
|
Health Risk |
Conflicting classifications of pathogenicity |
Cutaneous porphyria, UROS-related disorder |
| RS121908015 |
UROS
|
Health Risk |
Pathogenic |
Cutaneous porphyria, UROS-related disorder |
| RS121908016 |
UROS
|
Health Risk |
Conflicting classifications of pathogenicity |
Cutaneous porphyria, Cutaneous porphyria |
| RS121908017 |
UROS
|
Health Risk |
Pathogenic |
Cutaneous porphyria, Cutaneous porphyria |
| RS121908018 |
UROS
|
Health Risk |
Pathogenic |
Cutaneous porphyria, Cutaneous porphyria |
| RS121908020 |
UROS
|
Health Risk |
Pathogenic |
Cutaneous porphyria, Cutaneous porphyria |
| RS121908021 |
UROS
|
Health Risk |
Pathogenic |
Cutaneous porphyria, Cutaneous porphyria |
| RS121908023 |
ALG9
|
Health Risk |
Likely pathogenic |
ALG9 congenital disorder of glycosylation, ALG9-related disorder |
| RS121908024 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS121908025 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS121908026 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS121908027 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS121908028 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908029 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908030 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908031 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS121908032 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS121908033 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908034 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS121908035 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS121908036 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908037 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908038 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS121908039 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908040 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS121908041 |
LDLR
|
Health Risk |
Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908042 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS121908043 |
LDLR
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS121908044 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS121908045 |
GALE
|
Health Risk |
Likely pathogenic |
UDPglucose-4-epimerase deficiency, Thrombocytopenia 13 |
| RS121908046 |
GALE
|
Health Risk |
Conflicting classifications of pathogenicity |
UDPglucose-4-epimerase deficiency, Thrombocytopenia 13 |
| RS121908047 |
GALE
|
Health Risk |
Pathogenic/Likely pathogenic |
Galactosemia III, severe |
| RS121908048 |
LCAT
|
Health Risk |
Pathogenic |
LCAT deficiency, LCAT deficiency |
| RS121908049 |
LCAT
|
Health Risk |
Pathogenic |
LCAT deficiency, LCAT deficiency |
| RS121908050 |
LCAT
|
Health Risk |
Pathogenic |
Fish-eye disease, Norum disease |
| RS121908051 |
LCAT
|
Health Risk |
Pathogenic |
Fish-eye disease, Norum disease |
| RS121908054 |
LCAT
|
Health Risk |
Pathogenic |
LCAT deficiency, LCAT deficiency |
| RS121908055 |
LCAT
|
Health Risk |
Pathogenic/Likely pathogenic |
LCAT deficiency, Norum disease |
| RS121908056 |
LCAT
|
Health Risk |
Pathogenic |
Fish-eye disease, Fish-eye disease |
| RS121908057 |
LCAT
|
Health Risk |
Pathogenic |
Fish-eye disease, Fish-eye disease |
| RS121908059 |
TMPRSS15
|
Health Risk |
Pathogenic |
Enterokinase deficiency, Enterokinase deficiency |
| RS121908060 |
TMPRSS15
|
Health Risk |
Pathogenic |
Enterokinase deficiency, Enterokinase deficiency |
| RS121908061 |
GP1BA
|
Health Risk |
Pathogenic |
Bernard-Soulier syndrome, type A1 |
| RS121908062 |
GP1BA
|
Health Risk |
Pathogenic |
Pseudo von Willebrand disease, Pseudo von Willebrand disease |
| RS121908063 |
GP1BA
|
Health Risk |
Likely pathogenic |
Bernard-Soulier syndrome, type A2 |
| RS121908064 |
GP1BA
|
Health Risk |
Pathogenic/Likely pathogenic |
Pseudo von Willebrand disease, Thrombocytopenia |
| RS121908065 |
GP1BA
|
Health Risk |
Pathogenic |
Bernard-Soulier syndrome, type A1 |
| RS121908067 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Squamous cell lung carcinoma |
| RS121908068 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Sotos syndrome |
| RS121908069 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Sotos syndrome |
| RS121908070 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Sotos syndrome |
| RS121908071 |
NSD1
|
Health Risk |
Likely pathogenic |
Sotos syndrome, Sotos syndrome |
| RS121908072 |
TMC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 36, Rare genetic deafness |
| RS121908073 |
TMC1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 7, Rare genetic deafness |
| RS121908074 |
TMC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 7, Nonsyndromic genetic hearing loss |
| RS121908076 |
TMC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 7, Hearing loss |
| RS121908077 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Achondrogenesis, type IB |
| RS121908078 |
SLC26A2
|
Health Risk |
Pathogenic |
De la Chapelle dysplasia, Diastrophic dysplasia |
| RS121908079 |
CLN6
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS121908080 |
CLN6
|
Health Risk |
Pathogenic/Likely pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS121908081 |
MLYCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase |
| RS121908082 |
TPO
|
Health Risk |
Pathogenic |
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS121908083 |
TPO
|
Health Risk |
Pathogenic |
Deficiency of iodide peroxidase, Congenital hypothyroidism |