| RS1057517023 |
LAMA3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517024 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1057517025 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517026 |
GRHPR
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type II |
| RS1057517027 |
PROP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pituitary hormone deficiency, combined |
| RS1057517028 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Intermediate severe Salla disease |
| RS1057517029 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517030 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517031 |
BBS10
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1057517032 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1057517033 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1057517034 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517035 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517036 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1057517039 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1057517040 |
MCOLN1
|
Health Risk |
Likely pathogenic |
Mucolipidosis type IV, Mucolipidosis type IV |
| RS1057517041 |
PROP1
|
Health Risk |
Pathogenic |
Pituitary hormone deficiency, combined |
| RS1057517042 |
SLC26A4
|
Health Risk |
Pathogenic |
Pendred syndrome, Pendred syndrome |
| RS1057517043 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1057517044 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1057517045 |
HSD17B4
|
Health Risk |
Likely pathogenic |
Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1 |
| RS1057517046 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1057517047 |
PKHD1
|
Health Risk |
Pathogenic |
Urogenital tract malformation, Polycystic kidney disease 4 |
| RS1057517048 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1F, Usher syndrome type 1F |
| RS1057517049 |
PPT1
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1057517050 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS1057517051 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1057517052 |
CNGB3
|
Health Risk |
Likely pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS1057517053 |
CNGB3
|
Health Risk |
Likely pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS1057517055 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517056 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1057517057 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS1057517058 |
PYGM
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type V |
| RS1057517059 |
PEX7
|
Health Risk |
Pathogenic |
Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1 |
| RS1057517060 |
SACS
|
Health Risk |
Pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1057517062 |
AGA
|
Health Risk |
Likely pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1057517063 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517064 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1057517065 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517066 |
ASPA
|
Health Risk |
Likely pathogenic |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS1057517067 |
PYGM
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type V |
| RS1057517068 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS1057517069 |
SLC22A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1057517070 |
DHCR7
|
Health Risk |
Pathogenic/Likely pathogenic |
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1057517071 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, PKHD1-related disorder |
| RS1057517072 |
AIRE
|
Health Risk |
Pathogenic/Likely pathogenic |
Polyglandular autoimmune syndrome, type 1 |
| RS1057517073 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1057517075 |
NBN
|
Health Risk |
Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1057517076 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517077 |
NPC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Niemann-Pick disease, type C1 |
| RS1057517078 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1057517079 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS1057517081 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, HGD-related disorder |
| RS1057517082 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1057517083 |
CBS
|
Health Risk |
Pathogenic |
Classic homocystinuria, HYPERHOMOCYSTEINEMIA |
| RS1057517084 |
FAH
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS1057517085 |
ASPA
|
Health Risk |
Pathogenic |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS1057517086 |
SMPD1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type A |
| RS1057517087 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1057517088 |
GCDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Glutaric aciduria, type 1 |
| RS1057517089 |
HGD
|
Health Risk |
Likely pathogenic |
Alkaptonuria, Alkaptonuria |
| RS1057517090 |
MLC1
|
Health Risk |
Pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1057517091 |
ALDOB
|
Health Risk |
Likely pathogenic |
Hereditary fructosuria, Hereditary fructosuria |
| RS1057517094 |
GNE
|
Health Risk |
Pathogenic/Likely pathogenic |
GNE myopathy, Sialuria |
| RS1057517095 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517096 |
LAMB3
|
Health Risk |
Pathogenic/Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa |
| RS1057517097 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1057517098 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type A |
| RS1057517099 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517100 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1057517101 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1057517102 |
NBN
|
Health Risk |
Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1057517103 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057517104 |
NBN
|
Health Risk |
Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1057517105 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS1057517106 |
SLC22A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1057517107 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1057517108 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057517109 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS1057517110 |
PMM2
|
Health Risk |
Pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS1057517111 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS1057517112 |
PPT1
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1057517113 |
FAH
|
Health Risk |
Likely pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS1057517114 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS1057517115 |
MPI
|
Health Risk |
Likely pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1057517116 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Plasma factor XI deficiency |
| RS1057517117 |
PMM2
|
Health Risk |
Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS1057517118 |
HSD17B4
|
Health Risk |
Likely pathogenic |
Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS1057517119 |
SLC17A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Salla disease, Salla disease |
| RS1057517120 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517123 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1057517124 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1057517125 |
FANCC
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group C, Fanconi anemia |
| RS1057517126 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517129 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1057517130 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1057517131 |
FANCC
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group C, Fanconi anemia |
| RS1057517132 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1057517133 |
ALDOB
|
Health Risk |
Pathogenic |
Hereditary fructosuria, Hereditary fructosuria |
| RS1057517134 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |