| RS786204576 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS786204578 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS786204581 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS786204583 |
NPHS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrotic syndrome, type 2 |
| RS786204584 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, ATP7B-related disorder |
| RS786204585 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS786204586 |
NPC1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C1 |
| RS786204588 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS786204591 |
PMM2
|
Health Risk |
Pathogenic/Likely pathogenic |
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS786204593 |
MPI
|
Health Risk |
Pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS786204595 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS786204597 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss |
| RS786204598 |
ALDOB
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary fructosuria, Hereditary fructosuria |
| RS786204599 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS786204600 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS786204601 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS786204606 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS786204607 |
HADHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS786204613 |
IVD
|
Health Risk |
Pathogenic/Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleric acidemia |
| RS786204614 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS786204616 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS786204618 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS786204620 |
ASPA
|
Health Risk |
Pathogenic |
Spongy degeneration of central nervous system, Inborn genetic diseases |
| RS786204621 |
GAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type II |
| RS786204625 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS786204626 |
GCDH
|
Health Risk |
Conflicting classifications of pathogenicity |
Glutaric aciduria, type 1 |
| RS786204627 |
GCDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Glutaric aciduria, type 1 |
| RS786204628 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS786204631 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases |
| RS786204632 |
CTNS
|
Health Risk |
Pathogenic |
Nephropathic cystinosis, Nephrotic syndrome |
| RS786204634 |
ALPL
|
Health Risk |
Pathogenic |
Infantile hypophosphatasia, Hypophosphatasia |
| RS786204637 |
SLC37A4
|
Health Risk |
Pathogenic |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS786204638 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS786204639 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS786204641 |
NPC1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS786204642 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS786204643 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Wilson disease |
| RS786204644 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS786204645 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS786204646 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS786204647 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS786204648 |
ASS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Citrullinemia type I, Citrullinemia |
| RS786204655 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS786204658 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS786204661 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS786204662 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, Alkaptonuria |
| RS786204663 |
PROP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pituitary hormone deficiency, combined |
| RS786204667 |
CTNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephropathic cystinosis, Inborn genetic diseases |
| RS786204671 |
BBS10
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS786204673 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, late infantile form |
| RS786204675 |
SLC26A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple epiphyseal dysplasia type 4, Sulfate transporter-related osteochondrodysplasia |
| RS786204676 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS786204677 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS786204678 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS786204679 |
CBS
|
Health Risk |
Pathogenic |
Classic homocystinuria, HYPERHOMOCYSTEINEMIA |
| RS786204683 |
FAH
|
Health Risk |
Likely pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS786204684 |
RMRP
|
Health Risk |
Pathogenic/Likely pathogenic |
Metaphyseal chondrodysplasia, McKusick type |
| RS786204688 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS786204690 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS786204691 |
ACADS
|
Health Risk |
Pathogenic |
Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder |
| RS786204693 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS786204694 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type A |
| RS786204695 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS786204696 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease |
| RS786204701 |
BBS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, Retinal dystrophy |
| RS786204704 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS786204705 |
BBS10
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS786204707 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Renal cyst |
| RS786204708 |
NPHS2
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, type 2 |
| RS786204713 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder |
| RS786204714 |
NPC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS786204715 |
MAN2B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS786204718 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS786204720 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS786204721 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS786204722 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS786204723 |
PYGM
|
Health Risk |
Pathogenic |
Glycogen storage disease, type V |
| RS786204724 |
F11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor XI deficiency disease, F11-related disorder |
| RS786204726 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS786204727 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS786204728 |
CYP21A2
|
Health Risk |
Pathogenic |
ADRENAL HYPERPLASIA, CONGENITAL |
| RS786204729 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS786204730 |
SLC26A4
|
Health Risk |
Pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS786204732 |
LAMA3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS786204733 |
SMPD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type A |
| RS786204734 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness |
| RS786204737 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS786204738 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS786204739 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS786204740 |
SLC37A4
|
Health Risk |
Pathogenic |
Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect |
| RS786204741 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Malignant tumor of esophagus |
| RS786204743 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1 |
| RS786204747 |
MLC1
|
Health Risk |
Pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS786204749 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS786204750 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS786204751 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS786204752 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS786204753 |
TPP1
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7 |
| RS786204754 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS786204757 |
CBS
|
Health Risk |
Pathogenic |
Classic homocystinuria, Homocystinuria |