| RS113994033 |
EIF2B4
|
Health Risk |
Likely pathogenic |
Leukoencephalopathy with vanishing white matter 4, Vanishing white matter disease |
| RS113994035 |
EIF2B4
|
Health Risk |
Conflicting classifications of pathogenicity |
Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994037 |
EIF2B4
|
Health Risk |
Pathogenic |
Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994038 |
EIF2B4
|
Health Risk |
Pathogenic |
Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994039 |
EIF2B4
|
Health Risk |
Pathogenic |
Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994040 |
EIF2B4
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy with vanishing white matter 4, Vanishing white matter disease |
| RS113994043 |
EIF2B5
|
Health Risk |
Conflicting classifications of pathogenicity |
Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS113994044 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
EIF2B5-related disorder, Leukoencephalopathy with vanishing white matter 5 |
| RS113994045 |
EIF2B5
|
Health Risk |
Pathogenic |
— |
| RS113994047 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS113994048 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, Inborn genetic diseases |
| RS113994049 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, See cases |
| RS113994050 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS113994051 |
EIF2B5
|
Health Risk |
Pathogenic |
— |
| RS113994053 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy with vanishing white matter 5, Vanishing white matter disease |
| RS113994054 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5 |
| RS113994055 |
EIF2B5
|
Health Risk |
Likely pathogenic |
Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS113994056 |
EIF2B5
|
Health Risk |
Pathogenic |
— |
| RS113994057 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1 |
| RS113994058 |
EIF2B5
|
Health Risk |
Likely pathogenic |
— |
| RS113994060 |
EIF2B5
|
Health Risk |
Likely pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1 |
| RS113994061 |
EIF2B5
|
Health Risk |
Likely pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5 |
| RS113994063 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, Leukodystrophy |
| RS113994064 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5 |
| RS113994068 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5 |
| RS113994069 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS113994074 |
EIF2B5
|
Health Risk |
Likely pathogenic |
Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS113994075 |
EIF2B5
|
Health Risk |
Likely pathogenic |
— |
| RS113994076 |
EIF2B5
|
Health Risk |
Pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS113994078 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy with vanishing white matter 5, Vanishing white matter disease |
| RS113994079 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS113994080 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Vanishing white matter disease |
| RS113994082 |
EIF2B5
|
Health Risk |
Likely pathogenic |
Ovarioleukodystrophy, Vanishing white matter disease |
| RS113994083 |
EIF2B5
|
Health Risk |
Pathogenic |
Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5 |
| RS113994084 |
EIF2B5
|
Health Risk |
Pathogenic |
— |
| RS113994087 |
ALK
|
Health Risk |
Pathogenic |
Neuroblastoma, susceptibility to |
| RS113994088 |
ALK
|
Health Risk |
Pathogenic; risk factor |
Neuroblastoma, susceptibility to |
| RS113994089 |
ALK
|
Health Risk |
Pathogenic |
Neuroblastoma, susceptibility to |
| RS113994090 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS113994091 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS113994093 |
POLG
|
Health Risk |
Pathogenic |
Mitochondrial disease, Progressive sclerosing poliodystrophy |
| RS113994094 |
POLG
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS113994095 |
POLG
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
| RS113994096 |
POLG
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1 |
| RS113994097 |
POLG
|
Health Risk |
Pathogenic/Likely pathogenic |
Sensory ataxic neuropathy, dysarthria |
| RS113994098 |
POLG
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
| RS113994099 |
POLG
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
| RS113994100 |
POLG
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS113994101 |
POLG
|
Health Risk |
Likely pathogenic |
Mitochondrial disease, Mitochondrial disease |
| RS113994102 |
CTDP1
|
Health Risk |
Pathogenic |
Congenital cataracts-facial dysmorphism-neuropathy syndrome, Charcot-Marie-Tooth disease |
| RS113994103 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS113994104 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS113994105 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS113994106 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS113994108 |
COL4A1
|
Health Risk |
Pathogenic |
Developmental cataract, Brain small vessel disease 1 with or without ocular anomalies |
| RS113994109 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS113994110 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS113994111 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS113994112 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS113994113 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies |
| RS113994114 |
COL4A1
|
Health Risk |
Pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Inborn genetic diseases |
| RS113994115 |
MYCN
|
Health Risk |
Pathogenic |
Feingold syndrome type 1, Feingold syndrome type 1 |
| RS113994120 |
KCNA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Episodic ataxia type 1 |
| RS113994121 |
ADAMTSL2
|
Health Risk |
Pathogenic |
Geleophysic dysplasia 1, Geleophysic dysplasia 1 |
| RS113994122 |
ADAMTSL2
|
Health Risk |
Likely pathogenic |
Geleophysic dysplasia 1, Lethal short-limb skeletal dysplasia |
| RS113994123 |
ADAMTSL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Geleophysic dysplasia 1, Geleophysic dysplasia |
| RS113994124 |
ADAMTSL2
|
Health Risk |
Pathogenic |
Geleophysic dysplasia 1, Geleophysic dysplasia 1 |
| RS113994125 |
ADAMTSL2
|
Health Risk |
Pathogenic |
Geleophysic dysplasia 1, Geleophysic dysplasia 1 |
| RS113994126 |
AGL
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease IIIb, Glycogen storage disease type III |
| RS113994127 |
AGL
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease IIIb, Glycogen storage disease type III |
| RS113994128 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease IIIa, Glycogen storage disease type III |
| RS113994129 |
AGL
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease IIIb, Glycogen storage disease type III |
| RS113994130 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Acute rhabdomyolysis |
| RS113994131 |
AGL
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS113994132 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease IIIa, Glycogen storage disease type III |
| RS113994134 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease IIIa, Glycogen storage disease type III |
| RS113994135 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS113994136 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS113994137 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS113994138 |
STAT3
|
Health Risk |
Pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS113994139 |
STAT3
|
Health Risk |
Likely pathogenic |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
| RS113994140 |
PRICKLE1
|
Health Risk |
Pathogenic/Likely pathogenic |
Epilepsy, progressive myoclonic |
| RS113994142 |
PC
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS113994143 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS113994145 |
PC
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS113994146 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS113994148 |
PC
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS113994149 |
TSEN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia |
| RS113994150 |
TSEN34
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C |
| RS113994152 |
TSEN54
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 2A, Olivopontocerebellar hypoplasia |
| RS113994153 |
TSEN54
|
Health Risk |
Pathogenic/Likely pathogenic |
Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 5 |
| RS113994154 |
TSEN54
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 4 |
| RS113994158 |
MESP2
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 2, autosomal recessive |
| RS113994160 |
HES7
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 4, autosomal recessive |
| RS113994161 |
SUCLA2
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
| RS113994166 |
SLC16A2
|
Health Risk |
Pathogenic |
Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS113994167 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases |
| RS113994168 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, See cases |
| RS113994169 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases |
| RS113994170 |
DVL2;ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |