| RS397514526 |
ALOX12B
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514527 |
ALOX12B
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514528 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514529 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514532 |
ALOX12B
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 2, Congenital ichthyosiform erythroderma |
| RS397514533 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS397514534 |
DHTKD1
|
Health Risk |
Pathogenic |
2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease type 2A2 |
| RS397514535 |
ITPR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Spinocerebellar ataxia type 29, Inborn genetic diseases |
| RS397514536 |
ITPR1
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS397514537 |
C1GALT1C1
|
Health Risk |
Pathogenic |
Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome |
| RS397514538 |
SLC52A2
|
Health Risk |
Pathogenic |
Brown-Vialetto-van Laere syndrome 2, SLC52A2-related disorder |
| RS397514539 |
MTRFR
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 55, Spastic paraplegia |
| RS397514540 |
FTL
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy |
| RS397514541 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS397514542 |
TBXA2R
|
Health Risk |
risk factor |
Bleeding disorder, platelet-type |
| RS397514543 |
RXYLT1
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS397514545 |
RXYLT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS397514546 |
RXYLT1
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS397514547 |
CRPPA
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS397514548 |
CRPPA
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS397514550 |
PDGFRA
|
Health Risk |
Conflicting classifications of pathogenicity |
Isolated cleft palate, Gastrointestinal stromal tumor |
| RS397514551 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS397514552 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS397514553 |
NRAS
|
Health Risk |
Pathogenic |
Epidermal nevus, Noonan syndrome 1 |
| RS397514554 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, 7 conditions |
| RS397514555 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS397514556 |
GRIN2B
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 6 |
| RS397514557 |
GRIN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS397514558 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Ectopia lentis 1 |
| RS397514559 |
PTEN
|
Health Risk |
Likely pathogenic |
Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome |
| RS397514560 |
PTEN
|
Health Risk |
Pathogenic |
Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome |
| RS397514561 |
DNAAF5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia 18, Primary ciliary dyskinesia |
| RS397514562 |
PLCG2
|
Health Risk |
Pathogenic |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
| RS397514563 |
RNF213
|
Health Risk |
Pathogenic |
Moyamoya disease 2, Moyamoya disease 2 |
| RS397514564 |
SLC2A1
|
Health Risk |
risk factor |
Epilepsy, idiopathic generalized |
| RS397514565 |
PIK3CA
|
Health Risk |
Pathogenic |
Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome |
| RS397514567 |
TUBB2B
|
Health Risk |
Pathogenic |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS397514568 |
TUBB2B
|
Health Risk |
Conflicting classifications of pathogenicity |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS397514569 |
TUBB2B
|
Health Risk |
Likely pathogenic |
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS397514570 |
MVK
|
Health Risk |
Pathogenic |
Porokeratosis 3, disseminated superficial actinic type |
| RS397514571 |
MVK
|
Health Risk |
Pathogenic |
Porokeratosis 3, disseminated superficial actinic type |
| RS397514572 |
SCARB1
|
Health Risk |
association |
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6, HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 |
| RS397514573 |
BCKDK
|
Health Risk |
Pathogenic |
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS397514574 |
SNRNP200
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 33, Retinal dystrophy |
| RS397514575 |
SNRNP200
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 33, Retinitis pigmentosa 33 |
| RS397514576 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS397514577 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia - telangiectasia variant, Hereditary cancer-predisposing syndrome |
| RS397514578 |
PRRT2
|
Health Risk |
Pathogenic |
Infantile convulsions and choreoathetosis, Infantile convulsions and choreoathetosis |
| RS397514579 |
PRRT2
|
Health Risk |
Pathogenic/Likely pathogenic |
Episodic kinesigenic dyskinesia 1, Seizures |
| RS397514580 |
GCK
|
Health Risk |
Likely pathogenic |
Maturity-onset diabetes of the young type 2, Monogenic diabetes |
| RS397514581 |
KCNQ2
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 7 |
| RS397514582 |
KCNQ2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 7 |
| RS397514583 |
COX7B
|
Health Risk |
Pathogenic |
Linear skin defects with multiple congenital anomalies 2, Linear skin defects with multiple congenital anomalies 2 |
| RS397514584 |
COX7B
|
Health Risk |
Pathogenic |
Linear skin defects with multiple congenital anomalies 2, Nonpapillary renal cell carcinoma |
| RS397514585 |
COX7B
|
Health Risk |
Pathogenic |
Linear skin defects with multiple congenital anomalies 2, Linear skin defects with multiple congenital anomalies 2 |
| RS397514586 |
DPAGT1
|
Health Risk |
Pathogenic |
DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation |
| RS397514588 |
OTOGL
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 84B, OTOGL-related disorder |
| RS397514589 |
SKI
|
Health Risk |
Conflicting classifications of pathogenicity |
Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS397514590 |
SKI
|
Health Risk |
Likely pathogenic |
Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397514593 |
EARS2
|
Health Risk |
Pathogenic |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| RS397514594 |
EARS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| RS397514595 |
EARS2
|
Health Risk |
Pathogenic |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| RS397514598 |
PNPT1
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS397514599 |
PNPT1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70 |
| RS397514601 |
CAPN5
|
Health Risk |
Pathogenic |
Proliferative vitreoretinopathy, Autosomal dominant neovascular inflammatory vitreoretinopathy |
| RS397514602 |
CAPN5
|
Health Risk |
Pathogenic |
Proliferative vitreoretinopathy, Proliferative vitreoretinopathy |
| RS397514603 |
CHM
|
Health Risk |
Likely pathogenic |
Choroideremia, Choroideremia |
| RS397514605 |
AKT3
|
Health Risk |
Pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS397514606 |
AKT3
|
Health Risk |
Pathogenic |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
| RS397514607 |
OTOG
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS397514608 |
OTOG
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B |
| RS397514609 |
TMEM231
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 20, Meckel syndrome |
| RS397514610 |
FARS2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 14, Global developmental delay |
| RS397514611 |
FARS2
|
Health Risk |
Likely pathogenic |
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS397514612 |
FARS2
|
Health Risk |
Likely pathogenic |
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS397514613 |
MTFMT
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined oxidative phosphorylation defect type 15, Mitochondrial complex I deficiency |
| RS397514614 |
MTFMT
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS397514615 |
MFF
|
Health Risk |
Pathogenic/Likely pathogenic |
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Global developmental delay |
| RS397514616 |
TNNC1
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z |
| RS397514617 |
NDUFS8
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 2 |
| RS397514618 |
NDUFS8
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 2 |
| RS397514619 |
ATP2B3
|
Health Risk |
Likely pathogenic |
X-linked progressive cerebellar ataxia, Inborn genetic diseases |
| RS397514621 |
MEGF8
|
Health Risk |
Pathogenic |
MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome |
| RS397514622 |
IGSF1
|
Health Risk |
Pathogenic |
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS397514623 |
SMCHD1
|
Health Risk |
Pathogenic |
Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2 |
| RS397514624 |
COL4A1
|
Health Risk |
risk factor |
Hemorrhage, intracerebral |
| RS397514625 |
PNPLA2
|
Health Risk |
Pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS397514627 |
CAMK2G
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe intellectual disability, Global developmental delay |
| RS397514628 |
KDM6A
|
Health Risk |
Pathogenic |
Kabuki syndrome 2, Inborn genetic diseases |
| RS397514629 |
IL36RN
|
Health Risk |
Pathogenic |
Acrodermatitis continua suppurativa of Hallopeau, Acrodermatitis continua suppurativa of Hallopeau |
| RS397514630 |
IL36RN
|
Health Risk |
Conflicting classifications of pathogenicity |
Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau |
| RS397514631 |
PYGM
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type V |
| RS397514632 |
POLD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, susceptibility to |
| RS397514635 |
DYNC2H1
|
Health Risk |
Conflicting classifications of pathogenicity |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS397514637 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS397514638 |
STRA6
|
Health Risk |
Pathogenic |
Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS397514639 |
STRA6
|
Health Risk |
Likely pathogenic |
Matthew-Wood syndrome, STRA6-related disorder |
| RS397514640 |
PAX6
|
Health Risk |
Pathogenic/Likely pathogenic |
Aniridia 1, Irido-corneo-trabecular dysgenesis |
| RS397514641 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS397514642 |
ZNF335
|
Health Risk |
Pathogenic |
Microcephalic primordial dwarfism due to ZNF335 deficiency, Inborn genetic diseases |