| RS1557569082 |
ARID1A
|
Health Risk |
Conflicting classifications of pathogenicity |
ARID1A-related disorder, ARID1A-related disorder |
| RS1557569831 |
SZT2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 18 |
| RS1557570075 |
ARID1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 14 |
| RS1557570794 |
ARID1A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 14 |
| RS1557573504 |
ORC1
|
Health Risk |
Pathogenic |
Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1 |
| RS1557575235 |
NPHP4
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephronophthisis, Nephronophthisis |
| RS1557578607 |
NPHP4
|
Health Risk |
Likely pathogenic |
— |
| RS1557580413 |
NPHP4
|
Health Risk |
Pathogenic |
Nephronophthisis, Nephronophthisis |
| RS1557582259 |
RERE
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS1557582271 |
RERE
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS1557583707 |
RERE
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain |
| RS1557585860 |
ALG6
|
Health Risk |
Pathogenic |
ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C |
| RS1557586047 |
RERE
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS1557588167 |
NPHP4
|
Health Risk |
Pathogenic |
— |
| RS1557589101 |
SZT2
|
Health Risk |
Pathogenic |
— |
| RS1557589366 |
CSF3R
|
Health Risk |
Pathogenic |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| RS1557591264 |
ARID1A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 14 |
| RS1557595199 |
RPE65
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 2, Leber congenital amaurosis 2 |
| RS1557595745 |
RPE65
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 2, Retinitis pigmentosa 20 |
| RS1557597486 |
ALG6
|
Health Risk |
Likely pathogenic |
ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C |
| RS1557600322 |
RPE65
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1557600450 |
RPE65
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 20, Leber congenital amaurosis 2 |
| RS1557603993 |
C1QC
|
Health Risk |
Conflicting classifications of pathogenicity |
C1Q deficiency, C1Q deficiency |
| RS1557607997 |
MMACHC
|
Health Risk |
Pathogenic |
Cobalamin C disease, Cobalamin C disease |
| RS1557609323 |
SCP2
|
Health Risk |
Likely pathogenic |
— |
| RS1557611080 |
AK2
|
Health Risk |
Likely pathogenic |
— |
| RS1557612048 |
ARID1A
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 14 |
| RS1557612719 |
ST3GAL3
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 12 |
| RS1557616007 |
NPHP4
|
Health Risk |
Pathogenic |
Nephronophthisis, Nephronophthisis 4 |
| RS1557619767 |
ARID1A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1557620472 |
ALDH4A1
|
Health Risk |
Likely pathogenic |
Hyperprolinemia type 2, Hyperprolinemia type 2 |
| RS1557620758 |
ARID1A
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 14 |
| RS1557642000 |
DPH2
|
Health Risk |
Likely pathogenic |
Developmental delay with short stature, dysmorphic facial features |
| RS1557644984 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS1557644989 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS1557645002 |
SLC2A1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1557645723 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1557646075 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS1557646673 |
SLC2A1
|
Health Risk |
Pathogenic |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS1557646867 |
SLC2A1
|
Health Risk |
Pathogenic |
Hereditary cryohydrocytosis with reduced stomatin, Dystonia 9 |
| RS1557646893 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS1557658942 |
AHDC1
|
Health Risk |
Pathogenic |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS1557659237 |
GJB3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1557660662 |
TARDBP
|
Health Risk |
Likely pathogenic |
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS1557666781 |
ATP13A2
|
Health Risk |
Pathogenic |
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS1557667078 |
AHDC1
|
Health Risk |
Pathogenic/Likely pathogenic |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Cerebellar vermis hypoplasia |
| RS1557668270 |
MACF1
|
Health Risk |
Pathogenic |
Lissencephaly with decussation defect, lissencephaly with brainstem hypoplasia |
| RS1557669079 |
PIK3CD
|
Health Risk |
Likely pathogenic |
Immunodeficiency 14, Abnormality of the immune system |
| RS1557669478 |
POMGNT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1557670503 |
MACF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly with decussation defect, Lissencephaly 9 with complex brainstem malformation |
| RS1557670515 |
MACF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly with decussation defect, Lissencephaly 9 with complex brainstem malformation |
| RS1557670520 |
MACF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Lissencephaly with decussation defect, Lissencephaly 9 with complex brainstem malformation |
| RS1557670950 |
LEPR
|
Health Risk |
Pathogenic |
Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS1557670990 |
LEPR
|
Health Risk |
Pathogenic |
LEPR-related disorder, LEPR-related disorder |
| RS1557671443 |
POMGNT1
|
Health Risk |
Likely pathogenic |
— |
| RS1557673817 |
POMGNT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1557674267 |
POMGNT1
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1557677834 |
POMGNT1
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy |
| RS1557677980 |
POMGNT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 |
| RS1557680710 |
VPS13D
|
Health Risk |
Pathogenic |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS1557680919 |
VPS13D
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS1557684974 |
VPS13D
|
Health Risk |
Pathogenic |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS1557690051 |
ESPN
|
Health Risk |
Pathogenic |
— |
| RS1557700705 |
AGRN
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1557702487 |
AGRN
|
Health Risk |
Pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS1557703339 |
LDLRAP1
|
Health Risk |
Pathogenic |
Hypercholesterolemia, familial |
| RS1557704555 |
NPHP4
|
Health Risk |
Conflicting classifications of pathogenicity |
Nephronophthisis, Nephronophthisis |
| RS1557705968 |
VPS13D
|
Health Risk |
Pathogenic |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS1557708642 |
VPS13D
|
Health Risk |
Likely pathogenic |
VPS13D-related disorder, VPS13D-related disorder |
| RS1557713988 |
CPT2
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase II deficiency, neonatal form |
| RS1557714302 |
PPT1
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1 |
| RS1557718075 |
CPT2
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase II deficiency, myopathic form |
| RS1557719450 |
CPT2
|
Health Risk |
Pathogenic |
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency |
| RS1557719455 |
CPT2
|
Health Risk |
Pathogenic |
Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency |
| RS1557720377 |
ESPN
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Usher syndrome |
| RS1557721600 |
AGRN
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8 |
| RS1557725222 |
C8B
|
Health Risk |
Likely pathogenic |
— |
| RS1557731896 |
KCNA2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 32 |
| RS1557732234 |
ADPRS
|
Health Risk |
Pathogenic |
Neurodegeneration, childhood-onset |
| RS1557733311 |
ADPRS
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration, childhood-onset |
| RS1557733367 |
ADPRS
|
Health Risk |
Likely pathogenic |
Neurodegeneration, childhood-onset |
| RS1557733597 |
ADPRS
|
Health Risk |
Pathogenic |
Neurodegeneration, childhood-onset |
| RS1557734377 |
ADPRS
|
Health Risk |
Pathogenic |
Neurodegeneration, childhood-onset |
| RS1557737087 |
VPS13D
|
Health Risk |
Likely pathogenic |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome |
| RS1557738304 |
SDHB
|
Health Risk |
Likely pathogenic |
Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma |
| RS1557739557 |
MTOR
|
Health Risk |
Pathogenic/Likely pathogenic |
Macrocephaly, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS1557739966 |
SDHB
|
Health Risk |
Likely pathogenic |
Pheochromocytoma, Gastrointestinal stromal tumor |
| RS1557741425 |
SDHB
|
Health Risk |
Pathogenic |
Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma |
| RS1557741472 |
SDHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1557742277 |
PLEKHG5
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease recessive intermediate C, Charcot-Marie-Tooth disease recessive intermediate C |
| RS1557742895 |
SDHB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Pheochromocytoma |
| RS1557743907 |
C8B
|
Health Risk |
Pathogenic |
— |
| RS1557749651 |
AGL
|
Health Risk |
Likely pathogenic |
— |
| RS1557759023 |
MTHFR
|
Health Risk |
Pathogenic |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS1557761571 |
SPEN
|
Health Risk |
Pathogenic |
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS1557761665 |
MTHFR
|
Health Risk |
Likely pathogenic |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| RS1557762822 |
NFIA
|
Health Risk |
Pathogenic |
— |
| RS1557767754 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
ABCA4-related disorder, Severe early-childhood-onset retinal dystrophy |
| RS1557768696 |
NPHP4
|
Health Risk |
Pathogenic |
Nephronophthisis 4, Nephronophthisis 4 |
| RS1557768924 |
ABCA4
|
Health Risk |
Likely pathogenic |
— |