| RS267606641 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Rod-cone dystrophy |
| RS267606642 |
AIRE
|
Health Risk |
Pathogenic |
Polyglandular autoimmune syndrome, type 1 |
| RS267606643 |
AK2
|
Health Risk |
Pathogenic |
Reticular dysgenesis, Reticular dysgenesis |
| RS267606645 |
AK2
|
Health Risk |
Likely pathogenic |
Reticular dysgenesis, Severe combined immunodeficiency disease |
| RS267606646 |
AK2
|
Health Risk |
Pathogenic |
Reticular dysgenesis, Reticular dysgenesis |
| RS267606647 |
AK2
|
Health Risk |
Pathogenic |
Reticular dysgenesis, Reticular dysgenesis |
| RS267606648 |
AK2
|
Health Risk |
Pathogenic/Likely pathogenic |
Reticular dysgenesis, Severe combined immunodeficiency disease |
| RS267606649 |
AKR1D1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2 |
| RS267606650 |
AKR1D1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect |
| RS267606651 |
ALG1
|
Health Risk |
Pathogenic/Likely pathogenic |
ALG1-congenital disorder of glycosylation, Inborn genetic diseases |
| RS267606652 |
ALG11
|
Health Risk |
Pathogenic |
ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation |
| RS267606653 |
ALX4
|
Health Risk |
Pathogenic |
Frontonasal dysplasia with alopecia and genital anomaly, Inborn genetic diseases |
| RS267606654 |
AMH
|
Health Risk |
Pathogenic |
Persistent mullerian duct syndrome, type I |
| RS267606655 |
ANGPTL3
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS267606656 |
ANKH
|
Health Risk |
Pathogenic |
Craniometaphyseal dysplasia, autosomal dominant |
| RS267606657 |
ANKH
|
Health Risk |
Pathogenic |
Craniometaphyseal dysplasia, autosomal dominant |
| RS267606658 |
ANKH
|
Health Risk |
Pathogenic |
Craniometaphyseal dysplasia, autosomal dominant |
| RS267606659 |
APCDD1
|
Health Risk |
Pathogenic |
Hypotrichosis 1, Hypotrichosis 1 |
| RS267606665 |
APTX
|
Health Risk |
Likely pathogenic |
Ataxia, early-onset |
| RS267606666 |
ARX
|
Health Risk |
Pathogenic |
X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS267606668 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS267606669 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS267606670 |
ATP1A3
|
Health Risk |
Pathogenic |
Dystonia 12, Alternating hemiplegia of childhood 2 |
| RS267606672 |
ATP7A
|
Health Risk |
Pathogenic |
X-linked distal spinal muscular atrophy type 3, Charcot-Marie-Tooth disease |
| RS267606673 |
ATP7A
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked distal spinal muscular atrophy type 3, Charcot-Marie-Tooth disease |
| RS267606674 |
AXIN2
|
Health Risk |
Pathogenic |
Carcinoma of colon, Oligodontia-cancer predisposition syndrome |
| RS267606675 |
B3GLCT
|
Health Risk |
Pathogenic |
Peters plus syndrome, Peters plus syndrome |
| RS267606676 |
BEST1
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 50, Retinal dystrophy |
| RS267606677 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitelliform macular dystrophy 2, Retinitis pigmentosa 50 |
| RS267606678 |
BEST1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 50, Retinal dystrophy |
| RS267606679 |
BEST1
|
Health Risk |
Pathogenic |
Autosomal dominant vitreoretinochoroidopathy, Autosomal dominant vitreoretinochoroidopathy |
| RS267606680 |
BEST1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 50, Retinitis pigmentosa 50 |
| RS267606681 |
BIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Myopathy, centronuclear |
| RS267606682 |
TWNK
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS267606683 |
SLC52A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS267606685 |
SLC52A3
|
Health Risk |
Pathogenic |
Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS267606686 |
SLC52A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Brown-Vialetto-van Laere syndrome 1, Progressive bulbar palsy of childhood |
| RS267606688 |
SLC52A3
|
Health Risk |
Pathogenic |
Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS267606689 |
NDUFAF5
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 16 |
| RS267606691 |
PCARE
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 54, Retinitis pigmentosa |
| RS267606692 |
WDPCP
|
Health Risk |
risk factor |
Bardet-Biedl syndrome 12, modifier of |
| RS267606693 |
WDPCP
|
Health Risk |
risk factor |
Meckel syndrome, type 6 |
| RS267606694 |
CA12
|
Health Risk |
Pathogenic |
Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis |
| RS267606695 |
CA8
|
Health Risk |
Pathogenic |
Cerebellar ataxia, intellectual disability |
| RS267606696 |
CACNA1A
|
Health Risk |
Pathogenic |
Episodic ataxia, type 2 |
| RS267606698 |
CACNA1S
|
Health Risk |
Likely pathogenic |
Hypokalemic periodic paralysis, type 1 |
| RS267606699 |
CANT1
|
Health Risk |
Likely pathogenic |
Desbuquois dysplasia 1, Desbuquois dysplasia 1 |
| RS267606700 |
CANT1
|
Health Risk |
Likely pathogenic |
Desbuquois dysplasia 1, CANT1-related disorder |
| RS267606701 |
CANT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Desbuquois dysplasia 1, Inborn genetic diseases |
| RS267606702 |
CANT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Desbuquois dysplasia 1, Epiphyseal dysplasia |
| RS267606703 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS267606704 |
CBL
|
Health Risk |
Likely pathogenic |
RASopathy, CBL-related disorder |
| RS267606705 |
CBL
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, CBL-related disorder |
| RS267606706 |
CBL
|
Health Risk |
Pathogenic/Likely pathogenic |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia, RASopathy |
| RS267606707 |
CBL
|
Health Risk |
Pathogenic |
CBL-related disorder, CBL-related disorder |
| RS267606708 |
CBL
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, Rhabdomyosarcoma |
| RS267606709 |
CC2D2A
|
Health Risk |
Conflicting classifications of pathogenicity |
COACH syndrome 2, Joubert syndrome 9 |
| RS267606710 |
CD2AP
|
Health Risk |
Conflicting classifications of pathogenicity |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, Focal segmental glomerulosclerosis 3 |
| RS267606711 |
CD79B
|
Health Risk |
Pathogenic |
Agammaglobulinemia 6, autosomal recessive |
| RS267606712 |
CDH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome |
| RS267606713 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS267606715 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS267606716 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS267606717 |
CEP152
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 9, primary |
| RS267606718 |
CEP152
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 9, primary |
| RS267606719 |
CEP290
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 14, Joubert syndrome 5 |
| RS267606722 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS267606724 |
CHD7
|
Health Risk |
Conflicting classifications of pathogenicity |
CHARGE syndrome, CHARGE syndrome |
| RS267606725 |
CHRNG
|
Health Risk |
Likely pathogenic |
Autosomal recessive multiple pterygium syndrome, Scoliosis |
| RS267606726 |
CHRNG
|
Health Risk |
Likely pathogenic |
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS267606729 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS267606730 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type 1 |
| RS267606731 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type 1 |
| RS267606732 |
CHST3
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS267606733 |
CHST3
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS267606734 |
CHST3
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations |
| RS267606736 |
CHUK
|
Health Risk |
Pathogenic |
Cocoon syndrome, Cocoon syndrome |
| RS267606737 |
CLN3
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS267606738 |
CLN5
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS267606739 |
CNGB3
|
Health Risk |
Pathogenic |
Achromatopsia 3, Retinal dystrophy |
| RS267606740 |
COG4
|
Health Risk |
Pathogenic/Likely pathogenic |
COG4-congenital disorder of glycosylation, See cases |
| RS267606741 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS267606742 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS267606743 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity |
| RS267606744 |
COL4A1
|
Health Risk |
Pathogenic |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS267606745 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome |
| RS267606746 |
COL6A1
|
Health Risk |
Pathogenic |
Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A |
| RS267606747 |
COL6A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B |
| RS267606748 |
COL6A2
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B |
| RS267606749 |
COL6A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Bethlem myopathy 1A, Collagen 6-related myopathy |
| RS267606750 |
COL6A2
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1B |
| RS267606751 |
COQ9
|
Health Risk |
Pathogenic |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| RS267606752 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Intellectual disability |
| RS267606754 |
CTNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile nephropathic cystinosis, Cystinosis |
| RS267606755 |
CYP11B1
|
Health Risk |
Pathogenic |
Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder |
| RS267606756 |
CYP21A2
|
Health Risk |
Pathogenic |
ADRENAL HYPERPLASIA, CONGENITAL |
| RS267606758 |
CYP7B1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A |
| RS267606761 |
DBH
|
Health Risk |
Conflicting classifications of pathogenicity |
Orthostatic hypotension 1, Orthostatic hypotension 1 |
| RS267606762 |
HOGA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary hyperoxaluria type 3, HOGA1-related disorder |
| RS267606763 |
HOGA1
|
Health Risk |
Pathogenic |
Primary hyperoxaluria type 3, Primary hyperoxaluria type 3 |