| RS28935474 |
ARSL
|
Health Risk |
Pathogenic |
X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1 |
| RS28935475 |
HSD17B10
|
Health Risk |
Pathogenic |
HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS28935477 |
FOXP3
|
Health Risk |
Pathogenic |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Hydrops fetalis |
| RS28935478 |
BTK
|
Health Risk |
Likely pathogenic |
X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency |
| RS28935479 |
ARX
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, X-linked |
| RS28935480 |
CFP
|
Health Risk |
Pathogenic |
Properdin deficiency, X-linked |
| RS28935481 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS28935482 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS28935484 |
ALAS2
|
Health Risk |
Pathogenic |
X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1 |
| RS28935485 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, cardiac variant |
| RS28935486 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935487 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS28935488 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS28935489 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935490 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Migalastat response, Fabry disease |
| RS28935491 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935492 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935493 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935494 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS28935495 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS28935496 |
AVPR2
|
Health Risk |
Pathogenic |
Diabetes insipidus, nephrogenic |
| RS28935497 |
FGD1
|
Health Risk |
Pathogenic |
Aarskog syndrome, Aarskog syndrome |
| RS28935498 |
FGD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Aarskog syndrome, Intellectual disability |
| RS28935499 |
F8
|
Health Risk |
Pathogenic |
FACTOR VIII (OKAYAMA), Hereditary factor VIII deficiency disease |
| RS28935769 |
PDHB
|
Health Risk |
Likely pathogenic |
Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency |
| RS28936069 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS28936070 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS28936071 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS28936072 |
DKC1
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, X-linked |
| RS28936077 |
ARX
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked |
| RS28936368 |
COMP
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple epiphyseal dysplasia type 1, Carpal tunnel syndrome 2 |
| RS28936370 |
ABCC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS28936371 |
ABCC8
|
Health Risk |
Pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS28936374 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS28936375 |
CPT2
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase II deficiency, myopathic form |
| RS28936376 |
CPT2
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, myopathic form |
| RS28936379 |
PSEN2
|
Health Risk |
Pathogenic |
Alzheimer disease 4, Alzheimer disease 4 |
| RS28936380 |
PSEN2
|
Health Risk |
Pathogenic |
Alzheimer disease 4, Alzheimer disease 4 |
| RS28936381 |
GFI1
|
Health Risk |
Pathogenic |
Neutropenia, severe congenital |
| RS28936382 |
GFI1
|
Health Risk |
Conflicting classifications of pathogenicity |
Nonimmune chronic idiopathic neutropenia of adults, Neutropenia |
| RS28936383 |
SGCB
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy |
| RS28936387 |
SLC12A3
|
Health Risk |
Likely pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS28936388 |
SLC12A3
|
Health Risk |
Pathogenic |
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS28936396 |
GSS
|
Health Risk |
Pathogenic/Likely pathogenic |
Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency without 5-oxoprolinuria |
| RS28936397 |
GDF5
|
Health Risk |
Pathogenic |
Brachydactyly type C, Brachydactyly type C |
| RS28936399 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS28936401 |
ACVRL1
|
Health Risk |
Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS28936415 |
PMM2
|
Health Risk |
Conflicting classifications of pathogenicity |
PMM2-congenital disorder of glycosylation, Inborn genetic diseases |
| RS28936416 |
HESX1
|
Health Risk |
Pathogenic |
PITUITARY HORMONE DEFICIENCY, COMBINED |
| RS28936668 |
COMP
|
Health Risk |
Likely pathogenic |
Epiphyseal dysplasia, multiple |
| RS28936669 |
COMP
|
Health Risk |
Pathogenic |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS28936670 |
NKX2-5
|
Health Risk |
Conflicting classifications of pathogenicity |
Tetralogy of Fallot, Hypothyroidism |
| RS28936671 |
NKX2-1
|
Health Risk |
Pathogenic/Likely pathogenic |
Benign hereditary chorea, Brain-lung-thyroid syndrome |
| RS28936672 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Benign hereditary chorea, Brain-lung-thyroid syndrome |
| RS28936673 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS28936674 |
CPT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, severe infantile form |
| RS28936675 |
SHH
|
Health Risk |
Pathogenic |
Holoprosencephaly 3, Holoprosencephaly 3 |
| RS28936676 |
PPOX
|
Health Risk |
Pathogenic |
Variegate porphyria, childhood-onset |
| RS28936677 |
PPOX
|
Health Risk |
Pathogenic |
Variegate porphyria, childhood-onset |
| RS28936678 |
KCNJ11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hyperinsulinemic hypoglycemia, familial |
| RS28936680 |
ADAR
|
Health Risk |
Pathogenic |
Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities |
| RS28936681 |
ADAR
|
Health Risk |
Pathogenic |
Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities |
| RS28936682 |
PMP22
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 1E |
| RS28936683 |
GDF5
|
Health Risk |
Pathogenic |
Acromesomelic dysplasia 2B, Type A2 brachydactyly |
| RS28936684 |
CASR
|
Health Risk |
Pathogenic/Likely pathogenic |
Neonatal severe primary hyperparathyroidism, Autosomal dominant hypocalcemia 1 |
| RS28936686 |
CAV3
|
Health Risk |
Conflicting classifications of pathogenicity |
Rippling muscle disease 2, autosomal recessive |
| RS28936687 |
ACVRL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Telangiectasia |
| RS28936688 |
ACVRL1
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS28936691 |
ABCA3
|
Health Risk |
Pathogenic |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS28936692 |
SOX18
|
Health Risk |
Pathogenic |
Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome |
| RS28936693 |
SOX18
|
Health Risk |
Pathogenic |
Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome |
| RS28936694 |
MYOC
|
Health Risk |
Likely pathogenic |
GLAUCOMA 1, OPEN ANGLE |
| RS28936695 |
KRT12
|
Health Risk |
Pathogenic |
Corneal dystrophy, Meesmann |
| RS28936696 |
TBX4
|
Health Risk |
Pathogenic |
Coxopodopatellar syndrome, Coxopodopatellar syndrome |
| RS28936697 |
PEX12
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisomal biogenesis disorder 3b, Peroxisome biogenesis disorder 3A (Zellweger) |
| RS28936698 |
PEX12
|
Health Risk |
Pathogenic |
Peroxisomal biogenesis disorder 3b, Peroxisomal biogenesis disorder 3b |
| RS28936699 |
CASP10
|
Health Risk |
Pathogenic |
Non-Hodgkin lymphoma, Non-Hodgkin lymphoma |
| RS28936700 |
CYP1B1
|
Health Risk |
Pathogenic |
Glaucoma 3A, Congenital glaucoma |
| RS28936701 |
CYP1B1
|
Health Risk |
Pathogenic |
Glaucoma 3A, Primary congenital glaucoma |
| RS28936702 |
HESX1
|
Health Risk |
Pathogenic |
Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES |
| RS28936704 |
HESX1
|
Health Risk |
Conflicting classifications of pathogenicity |
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence |
| RS28937272 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28937282 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28937285 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, F8-related disorder |
| RS28937287 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28937289 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28937294 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS28937312 |
SERPINA7
|
Health Risk |
association |
Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus |
| RS28937313 |
ABCA1
|
Health Risk |
Pathogenic |
Tangier disease, Tangier disease |
| RS28937314 |
ABCA1
|
Health Risk |
Likely pathogenic |
Tangier disease, Tangier disease |
| RS28937315 |
CREBBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases |
| RS28937316 |
SCN5A
|
Health Risk |
Pathogenic |
Long QT syndrome 3, Congenital long QT syndrome |
| RS28937317 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 3, Congenital long QT syndrome |
| RS28937318 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Brugada syndrome |
| RS28937319 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Sick sinus syndrome 1, Sick sinus syndrome |
| RS28937320 |
HMGCS2
|
Health Risk |
Likely pathogenic |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS28937321 |
NOTCH3
|
Health Risk |
Pathogenic |
Cerebral arteriopathy, autosomal dominant |
| RS28937568 |
HSPB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronopathy, distal hereditary motor |
| RS28937569 |
HSPB1
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS28937571 |
CTSC
|
Health Risk |
Pathogenic |
Periodontitis, aggressive 1 |