| RS28939683 |
KCNQ2
|
Health Risk |
Pathogenic |
Seizures, benign familial neonatal |
| RS28939684 |
KCNQ2
|
Health Risk |
Pathogenic/Likely pathogenic |
Seizures, benign familial neonatal |
| RS28939688 |
OPTN
|
Health Risk |
Pathogenic |
Glaucoma 1, open angle |
| RS28939695 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Proteinuria, Finnish congenital nephrotic syndrome |
| RS28939701 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS28939702 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS28939709 |
LRP5
|
Health Risk |
Likely pathogenic |
Exudative vitreoretinopathy 4, autosomal recessive |
| RS28939710 |
KCNQ4
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 2A, Rare genetic deafness |
| RS28939711 |
COX15
|
Health Risk |
Pathogenic |
Cardioencephalomyopathy, fatal infantile |
| RS28939712 |
ELP1
|
Health Risk |
Likely pathogenic |
Familial dysautonomia, Charcot-Marie-Tooth disease |
| RS28939714 |
NDUFS3
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 8 |
| RS28939716 |
PHOX2B
|
Health Risk |
Pathogenic |
Hirschsprung disease-ganglioneuroblastoma syndrome, Hirschsprung disease-ganglioneuroblastoma syndrome |
| RS28939717 |
EIF2B5
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5 |
| RS28939719 |
KISS1R
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia |
| RS28939720 |
CRB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 12, Leber congenital amaurosis 8 |
| RS28940268 |
ABCA12
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A |
| RS28940269 |
ABCA12
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B |
| RS28940270 |
ABCA12
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 4A, ABCA12-related disorder |
| RS28940271 |
ABCA12
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B |
| RS28940272 |
VPS13B
|
Health Risk |
Conflicting classifications of pathogenicity |
Cohen syndrome, Inborn genetic diseases |
| RS28940273 |
BEST1
|
Health Risk |
Pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS28940274 |
BEST1
|
Health Risk |
Pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS28940275 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS28940276 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS28940278 |
BEST1
|
Health Risk |
Likely pathogenic |
Vitelliform macular dystrophy 2, Retinitis pigmentosa 50 |
| RS28940279 |
ASPA
|
Health Risk |
Pathogenic/Likely pathogenic |
Spongy degeneration of central nervous system, Canavan Disease |
| RS28940280 |
CLN5
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS28940282 |
SOX9
|
Health Risk |
Pathogenic |
ACAMPOMELIC CAMPOMELIC DYSPLASIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA |
| RS28940283 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS28940284 |
PINK1
|
Health Risk |
Pathogenic |
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS28940285 |
PINK1
|
Health Risk |
Pathogenic |
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS28940286 |
ASL
|
Health Risk |
Pathogenic/Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS28940287 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, ASL-related disorder |
| RS28940289 |
ETHE1
|
Health Risk |
Pathogenic |
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS28940291 |
MFN2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS28940292 |
MFN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS28940293 |
MFN2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS28940294 |
MFN2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 |
| RS28940295 |
MFN2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease |
| RS28940296 |
MFN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy |
| RS28940297 |
VHL
|
Health Risk |
Pathogenic |
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS, Von Hippel-Lindau syndrome |
| RS28940298 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS28940300 |
VHL
|
Health Risk |
Conflicting classifications of pathogenicity |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS28940301 |
VHL
|
Health Risk |
Likely pathogenic |
Chuvash polycythemia, Von Hippel-Lindau syndrome |
| RS28940307 |
MYH14
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A |
| RS28940308 |
PEX26
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B |
| RS28940313 |
RDH12
|
Health Risk |
Pathogenic/Likely pathogenic |
Leber congenital amaurosis 13, Retinal dystrophy |
| RS28940314 |
RDH12
|
Health Risk |
Pathogenic/Likely pathogenic |
Leber congenital amaurosis 13, Leber congenital amaurosis |
| RS28940315 |
RDH12
|
Health Risk |
Pathogenic/Likely pathogenic |
Leber congenital amaurosis 13, Leber congenital amaurosis |
| RS28940568 |
ABCA12
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B |
| RS28940569 |
CLN8
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis |
| RS28940570 |
BEST1
|
Health Risk |
Pathogenic/Likely pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS28940573 |
TPP1
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |
| RS28940574 |
ASPA
|
Health Risk |
Pathogenic |
Spongy degeneration of central nervous system, Canavan Disease |
| RS28940575 |
NHLRC1
|
Health Risk |
Pathogenic |
Myoclonic epilepsy of Lafora 2, Lafora disease |
| RS28940576 |
NHLRC1
|
Health Risk |
Pathogenic |
Myoclonic epilepsy of Lafora 2, Lafora disease |
| RS28940578 |
MEFV
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever, autosomal dominant |
| RS28940579 |
MEFV
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever, autosomal dominant |
| RS28940580 |
MEFV
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever, autosomal dominant |
| RS28940583 |
NEU1
|
Health Risk |
Pathogenic/Likely pathogenic |
Sialidosis type 1, Sialidosis |
| RS28940585 |
ASL
|
Health Risk |
Pathogenic/Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS28940586 |
HJV
|
Health Risk |
Conflicting classifications of pathogenicity |
Hemochromatosis type 2A, Hemochromatosis type 2A |
| RS28940588 |
ALG3
|
Health Risk |
Pathogenic |
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS28940589 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS28940590 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS28940591 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS28940868 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS28940869 |
POMGNT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS28940870 |
SERPING1
|
Health Risk |
Pathogenic |
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary angioedema type 1 |
| RS28940871 |
HEXA
|
Health Risk |
Conflicting classifications of pathogenicity |
Tay-Sachs disease, Tay-Sachs disease |
| RS28940872 |
ACADS
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS28940874 |
ACADS
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS28940875 |
ACADS
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS28940876 |
TYR
|
Health Risk |
Pathogenic |
Oculocutaneous albinism type 1A, Albinism |
| RS28940877 |
TYR
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculocutaneous albinism type 1A, 8 conditions |
| RS28940878 |
TYR
|
Health Risk |
Likely pathogenic |
Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A |
| RS28940879 |
TYR
|
Health Risk |
Conflicting classifications of pathogenicity |
Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3 |
| RS28940880 |
TYR
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3 |
| RS28940881 |
TYR
|
Health Risk |
Pathogenic/Likely pathogenic |
Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1A |
| RS28940882 |
GALE
|
Health Risk |
Pathogenic |
UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency |
| RS28940884 |
GALE
|
Health Risk |
Conflicting classifications of pathogenicity; other |
UDPglucose-4-epimerase deficiency, GALE-related disorder |
| RS28940885 |
GALE
|
Health Risk |
Conflicting classifications of pathogenicity; other |
UDPglucose-4-epimerase deficiency, GALE-related disorder |
| RS28940887 |
LCAT
|
Health Risk |
Likely pathogenic |
LCAT deficiency, LCAT deficiency |
| RS28940888 |
LCAT
|
Health Risk |
Pathogenic/Likely pathogenic |
LCAT deficiency, Fish-eye disease |
| RS28940889 |
IVD
|
Health Risk |
Pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases |
| RS28940891 |
NPHP4
|
Health Risk |
Pathogenic |
Nephronophthisis 4, Nephronophthisis 4 |
| RS28940892 |
MC2R
|
Health Risk |
Pathogenic |
Glucocorticoid deficiency 1, Glucocorticoid deficiency 1 |
| RS28940893 |
ARSA
|
Health Risk |
Pathogenic |
Metachromatic leukodystrophy, juvenile type |
| RS28940894 |
ARSA
|
Health Risk |
Pathogenic/Likely pathogenic |
Metachromatic leukodystrophy, adult type |
| RS28940895 |
ARSA
|
Health Risk |
Likely pathogenic |
Metachromatic leukodystrophy, adult type |
| RS28940896 |
KRT9
|
Health Risk |
Pathogenic |
Epidermolytic palmoplantar keratoderma, 1 |
| RS28940897 |
NPC1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C1 |
| RS28941468 |
BEST1
|
Health Risk |
Pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS28941469 |
BEST1
|
Health Risk |
Pathogenic |
Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS28941471 |
ADSL
|
Health Risk |
Pathogenic/Likely pathogenic |
Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency |
| RS28941472 |
ASL
|
Health Risk |
Likely pathogenic |
Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency |
| RS28941473 |
ASL
|
Health Risk |
Pathogenic |
Argininosuccinate lyase deficiency, Inborn genetic diseases |
| RS28941474 |
ARG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Arginase deficiency, Arginase deficiency |
| RS28941475 |
SETX
|
Health Risk |
Likely pathogenic |
Amyotrophic lateral sclerosis type 4, Distal spinal muscular atrophy |
| RS28941476 |
CYBA
|
Health Risk |
Pathogenic/Likely pathogenic |
Granulomatous disease, chronic |