| RS1057517136 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS1057517137 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517138 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1057517139 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS1057517140 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517141 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS1057517142 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1057517143 |
BBS1
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 1, Bardet-Biedl syndrome |
| RS1057517144 |
BCHE
|
Health Risk |
Likely pathogenic |
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517145 |
PYGM
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type V |
| RS1057517147 |
FANCC
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group C, Fanconi anemia complementation group C |
| RS1057517148 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS1057517149 |
NPC1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C1 |
| RS1057517150 |
PCDH15
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1F, Usher syndrome type 1F |
| RS1057517151 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517152 |
HSD17B4
|
Health Risk |
Likely pathogenic |
Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS1057517153 |
POMGNT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1057517154 |
BLM
|
Health Risk |
Pathogenic/Likely pathogenic |
Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517155 |
ACADS
|
Health Risk |
Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057517156 |
BBS10
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1057517157 |
GNE
|
Health Risk |
Likely pathogenic |
GNE myopathy, GNE myopathy |
| RS1057517158 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1057517159 |
LAMC2
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517160 |
FKTN
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1057517161 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Pendred syndrome, Pendred syndrome |
| RS1057517162 |
TH
|
Health Risk |
Likely pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057517164 |
NPHS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrotic syndrome, type 2 |
| RS1057517165 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS1057517166 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057517167 |
CNGB3
|
Health Risk |
Likely pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS1057517168 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517169 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Familial dysautonomia |
| RS1057517170 |
FANCC
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group C, Fanconi anemia complementation group C |
| RS1057517171 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517172 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517173 |
ALPL
|
Health Risk |
Likely pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1057517174 |
HEXA
|
Health Risk |
Pathogenic/Likely pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS1057517175 |
AGA
|
Health Risk |
Likely pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1057517177 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517178 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1057517179 |
ACADM
|
Health Risk |
Likely pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057517180 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1057517182 |
PCDH15
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1F, Usher syndrome type 1F |
| RS1057517183 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS1057517184 |
BBS10
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS1057517185 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1057517186 |
NPC1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS1057517187 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1057517188 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1057517189 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517190 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517191 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS1057517192 |
PPT1
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1057517193 |
BBS12
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 12, Bardet-Biedl syndrome |
| RS1057517194 |
NPC1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C1 |
| RS1057517195 |
SMPD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type B |
| RS1057517196 |
LAMA3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517197 |
NPC1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS1057517199 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS1057517200 |
SMPD1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type A |
| RS1057517201 |
FAH
|
Health Risk |
Likely pathogenic |
Tyrosinemia type I, Beta-D-mannosidosis |
| RS1057517202 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517203 |
FANCC
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group C, Fanconi anemia |
| RS1057517204 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517205 |
SGCB
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1057517206 |
BBS10
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10 |
| RS1057517207 |
LAMB3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517208 |
BCHE
|
Health Risk |
Likely pathogenic |
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517209 |
NBN
|
Health Risk |
Likely pathogenic |
Microcephaly, normal intelligence and immunodeficiency |
| RS1057517210 |
DHCR7
|
Health Risk |
Likely pathogenic |
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome |
| RS1057517211 |
LAMA3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517212 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517213 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517214 |
DLD
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency |
| RS1057517215 |
CLN3
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3 |
| RS1057517218 |
BCHE
|
Health Risk |
Likely pathogenic |
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517219 |
FANCC
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome |
| RS1057517220 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1057517221 |
BCHE
|
Health Risk |
Likely pathogenic |
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517222 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517223 |
AGA
|
Health Risk |
Pathogenic/Likely pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1057517224 |
CLRN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 3A, Usher syndrome type 3A |
| RS1057517225 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS1057517226 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517227 |
G6PC1
|
Health Risk |
Pathogenic |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1057517228 |
MLC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1057517229 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1057517230 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517232 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517233 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1057517235 |
LAMA3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517236 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517237 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1057517238 |
GRHPR
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria, type II |
| RS1057517239 |
AGA
|
Health Risk |
Likely pathogenic |
Aspartylglucosaminuria, Aspartylglucosaminuria |
| RS1057517241 |
AIRE
|
Health Risk |
Pathogenic |
Polyglandular autoimmune syndrome, type 1 |
| RS1057517242 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517243 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS1057517244 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1057517245 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |