| RS1057517353 |
LAMC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, LAMC2-related disorder |
| RS1057517355 |
POMGNT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1057517356 |
ACADM
|
Health Risk |
Pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057517357 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1057517358 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517359 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1057517360 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1057517361 |
PYGM
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type V |
| RS1057517362 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS1057517363 |
SUMF1
|
Health Risk |
Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS1057517364 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517365 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS1057517366 |
SACS
|
Health Risk |
Pathogenic/Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1057517367 |
LAMA3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517368 |
PPT1
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 1, Thyroid cancer |
| RS1057517369 |
POMGNT1
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS1057517370 |
HGD
|
Health Risk |
Likely pathogenic |
Alkaptonuria, Alkaptonuria |
| RS1057517372 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1057517373 |
CBS
|
Health Risk |
Pathogenic/Likely pathogenic |
Classic homocystinuria, Homocystinuria |
| RS1057517375 |
MLC1
|
Health Risk |
Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1057517376 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517377 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1057517378 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1057517379 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1057517381 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS1057517382 |
GALC
|
Health Risk |
Pathogenic/Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1057517383 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517384 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1057517385 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517386 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Cervical cancer |
| RS1057517387 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1057517388 |
CNGB3
|
Health Risk |
Likely pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS1057517390 |
SMPD1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type A |
| RS1057517391 |
ALPL
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile hypophosphatasia, Adult hypophosphatasia |
| RS1057517393 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517394 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1057517395 |
LAMB3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517396 |
DPYD
|
Health Risk |
Likely pathogenic |
Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517397 |
HADHA
|
Health Risk |
Pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS1057517398 |
GRHPR
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type II |
| RS1057517399 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1057517400 |
PYGM
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type V |
| RS1057517401 |
PPT1
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1057517402 |
ASS1
|
Health Risk |
Likely pathogenic |
Citrullinemia type I, Citrullinemia type I |
| RS1057517403 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517404 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1057517405 |
AGL
|
Health Risk |
Pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS1057517407 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS1057517408 |
MAN2B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of alpha-mannosidase, Intellectual disability |
| RS1057517410 |
GCDH
|
Health Risk |
Pathogenic |
Glutaric aciduria, type 1 |
| RS1057517411 |
ACADM
|
Health Risk |
Likely pathogenic |
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057517412 |
BCS1L
|
Health Risk |
Pathogenic |
GRACILE syndrome, Inborn genetic diseases |
| RS1057517413 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS1057517414 |
BCKDHB
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1057517415 |
GALT
|
Health Risk |
Likely pathogenic |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1057517416 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS1057517418 |
HGD
|
Health Risk |
Likely pathogenic |
Alkaptonuria, Alkaptonuria |
| RS1057517420 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS1057517421 |
ALDOB
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary fructosuria, Hereditary fructosuria |
| RS1057517422 |
POMGNT1
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS1057517423 |
TH
|
Health Risk |
Pathogenic |
Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia |
| RS1057517424 |
PROP1
|
Health Risk |
Likely pathogenic |
Pituitary hormone deficiency, combined |
| RS1057517425 |
AGL
|
Health Risk |
Likely pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS1057517427 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517428 |
AIRE
|
Health Risk |
Pathogenic |
Polyglandular autoimmune syndrome, type 1 |
| RS1057517429 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, Metachromatic leukodystrophy |
| RS1057517430 |
HADHA
|
Health Risk |
Likely pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1057517431 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1057517432 |
BLM
|
Health Risk |
Likely pathogenic |
Bloom syndrome, Bloom syndrome |
| RS1057517434 |
CNGB3
|
Health Risk |
Pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS1057517435 |
CBS
|
Health Risk |
Likely pathogenic |
Classic homocystinuria, Classic homocystinuria |
| RS1057517436 |
FAH
|
Health Risk |
Pathogenic |
Tyrosinemia type I, Tyrosinemia type I |
| RS1057517437 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517438 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517439 |
BCHE
|
Health Risk |
Likely pathogenic |
Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase |
| RS1057517440 |
LAMA3
|
Health Risk |
Likely pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057517441 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517442 |
PYGM
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type V |
| RS1057517443 |
PCDH15
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23 |
| RS1057517444 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1057517445 |
ALMS1
|
Health Risk |
Likely pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1057517446 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517447 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1057517448 |
TTPA
|
Health Risk |
Likely pathogenic |
Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E |
| RS1057517449 |
POMGNT1
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| RS1057517451 |
SACS
|
Health Risk |
Likely pathogenic |
Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057517452 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1057517453 |
MCOLN1
|
Health Risk |
Likely pathogenic |
Mucolipidosis type IV, Mucolipidosis type IV |
| RS1057517454 |
CNGB3
|
Health Risk |
Likely pathogenic |
Achromatopsia 3, Achromatopsia 3 |
| RS1057517455 |
NPC1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C1 |
| RS1057517456 |
MUTYH
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1057517457 |
MUTYH
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1057517459 |
MUTYH
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1057517460 |
MUTYH
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome |
| RS1057517461 |
SLC26A2
|
Health Risk |
Pathogenic |
Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II |
| RS1057517462 |
SLC26A2
|
Health Risk |
Likely pathogenic |
Achondrogenesis, type IB |
| RS1057517463 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517464 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517465 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1057517467 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |