| RS387906939 |
DHCR24
|
Health Risk |
Likely pathogenic |
Desmosterolosis, Desmosterolosis |
| RS387906940 |
DHCR24
|
Health Risk |
Conflicting classifications of pathogenicity |
Desmosterolosis, Desmosterolosis |
| RS387906941 |
ATL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia |
| RS387906942 |
HTRA2
|
Health Risk |
risk factor |
Parkinson disease 13, autosomal dominant |
| RS387906943 |
ST3GAL3
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 12 |
| RS387906944 |
SLC25A19
|
Health Risk |
Pathogenic |
Progressive demyelinating neuropathy with bilateral striatal necrosis, Amish lethal microcephaly |
| RS387906945 |
GDF3
|
Health Risk |
Likely pathogenic |
— |
| RS387906947 |
PAX3
|
Health Risk |
Conflicting classifications of pathogenicity |
Waardenburg syndrome type 1, Waardenburg syndrome type 1 |
| RS387906948 |
SAMHD1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS387906949 |
HEXA
|
Health Risk |
Pathogenic |
Tay-Sachs disease, Tay-Sachs disease |
| RS387906950 |
ACADS
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder |
| RS387906951 |
ACADS
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS387906952 |
GALC
|
Health Risk |
Pathogenic/Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS387906953 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS387906954 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS387906955 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS387906956 |
NDUFAF1
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 11 |
| RS387906958 |
NDUFAF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex I deficiency, nuclear type 11 |
| RS387906959 |
COG6
|
Health Risk |
Pathogenic |
COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation |
| RS387906960 |
FKBP10
|
Health Risk |
Pathogenic/Likely pathogenic |
Bruck syndrome 1, Osteogenesis imperfecta |
| RS387906961 |
MCPH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly 1, primary |
| RS387906962 |
MRPL3
|
Health Risk |
Likely pathogenic |
Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9 |
| RS387906963 |
FYCO1
|
Health Risk |
Pathogenic |
Cataract 18, Cataract 18 |
| RS387906964 |
FYCO1
|
Health Risk |
Pathogenic |
Cataract 18, Cataract 18 |
| RS387906965 |
FYCO1
|
Health Risk |
Pathogenic |
Cataract 18, Cataract 18 |
| RS387906966 |
FYCO1
|
Health Risk |
Pathogenic |
Cataract 18, Cataract 18 |
| RS387906967 |
IRF6
|
Health Risk |
Pathogenic |
Van der Woude syndrome 1, Popliteal pterygium syndrome |
| RS387906968 |
IRF6
|
Health Risk |
Likely pathogenic |
Popliteal pterygium syndrome, Inborn genetic diseases |
| RS387906969 |
ORC6
|
Health Risk |
Pathogenic |
Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3 |
| RS387906970 |
AP4S1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 52, Spastic paraplegia |
| RS387906971 |
PRPF8
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 13, Retinitis pigmentosa 13 |
| RS387906973 |
TWIST2
|
Health Risk |
Pathogenic |
Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III |
| RS387906974 |
TWIST2
|
Health Risk |
Pathogenic |
Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III |
| RS387906975 |
CNNM2
|
Health Risk |
Pathogenic |
Renal hypomagnesemia 6, Renal hypomagnesemia 6 |
| RS387906976 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS387906977 |
CEP57
|
Health Risk |
Pathogenic |
Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2 |
| RS387906978 |
HES7
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 4, autosomal recessive |
| RS387906979 |
HES7
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 4, autosomal recessive |
| RS387906980 |
WDR19
|
Health Risk |
Pathogenic |
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8 |
| RS387906981 |
WDR19
|
Health Risk |
Pathogenic |
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8 |
| RS387906982 |
WDR19
|
Health Risk |
Pathogenic |
Asphyxiating thoracic dystrophy 5, Asphyxiating thoracic dystrophy 5 |
| RS387906983 |
WDR19
|
Health Risk |
Pathogenic |
Nephronophthisis 13, Nephronophthisis 13 |
| RS387906984 |
CHSY1
|
Health Risk |
Pathogenic |
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS387906985 |
CHSY1
|
Health Risk |
Pathogenic |
Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome |
| RS387906986 |
SNIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Psychomotor retardation, epilepsy |
| RS387906987 |
ETHE1
|
Health Risk |
Pathogenic |
Ethylmalonic encephalopathy, Ethylmalonic encephalopathy |
| RS387906989 |
PRICKLE2
|
Health Risk |
Conflicting classifications of pathogenicity |
Progressive myoclonic epilepsy type 5, Sensory ataxic neuropathy |
| RS387906990 |
MFN2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, axonal |
| RS387906991 |
MFN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease |
| RS387906992 |
BMPER
|
Health Risk |
Pathogenic |
Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS387906993 |
BMPER
|
Health Risk |
Pathogenic |
Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS387906994 |
BMPER
|
Health Risk |
Pathogenic |
Diaphanospondylodysostosis, Diaphanospondylodysostosis |
| RS387906995 |
CDON
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 11, Holoprosencephaly 11 |
| RS387906996 |
CDON
|
Health Risk |
Pathogenic |
Holoprosencephaly 11, Holoprosencephaly 11 |
| RS387906997 |
CDON
|
Health Risk |
Pathogenic |
Holoprosencephaly 11, Holoprosencephaly 11 |
| RS387906998 |
PDHX
|
Health Risk |
Conflicting classifications of pathogenicity |
Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency |
| RS387906999 |
GIPC3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15 |
| RS387907000 |
GIPC3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15 |
| RS387907001 |
GIPC3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15 |
| RS387907002 |
GIPC3
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15 |
| RS387907003 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS387907004 |
MAFB
|
Health Risk |
Pathogenic |
Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS387907005 |
MAFB
|
Health Risk |
Pathogenic |
Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS387907006 |
MAFB
|
Health Risk |
Pathogenic/Likely pathogenic |
Multicentric carpo-tarsal osteolysis with or without nephropathy, Inborn genetic diseases |
| RS387907007 |
MAFB
|
Health Risk |
Pathogenic |
Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS387907008 |
MAFB
|
Health Risk |
Pathogenic |
Multicentric carpo-tarsal osteolysis with or without nephropathy, Multicentric carpo-tarsal osteolysis with or without nephropathy |
| RS387907009 |
IQCB1
|
Health Risk |
Pathogenic |
Senior-Loken syndrome 5, Nephronophthisis |
| RS387907010 |
GPSM2
|
Health Risk |
Pathogenic |
Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS387907012 |
IER3IP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Microcephaly, epilepsy |
| RS387907013 |
L2HGDH
|
Health Risk |
Pathogenic |
L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria |
| RS387907014 |
NECTIN4
|
Health Risk |
Pathogenic |
Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1 |
| RS387907015 |
ILDR1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42 |
| RS387907016 |
ILDR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 42, Hearing loss |
| RS387907017 |
ILDR1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 42, Rare genetic deafness |
| RS387907018 |
TMPRSS6
|
Health Risk |
Pathogenic |
Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS387907019 |
TUBGCP6
|
Health Risk |
Pathogenic |
Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1 |
| RS387907020 |
POLR1C
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 3, Treacher Collins syndrome 3 |
| RS387907021 |
DNAL1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 16, Kartagener syndrome |
| RS387907022 |
TRMU
|
Health Risk |
Pathogenic |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Inborn genetic diseases |
| RS387907023 |
PIGV
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1 |
| RS387907024 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, Sengers syndrome |
| RS387907025 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, Cataract 38 |
| RS387907026 |
RSPO4
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS387907027 |
RSPO4
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS387907028 |
RSPO4
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS387907029 |
CTHRC1
|
Health Risk |
Pathogenic |
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA |
| RS387907030 |
DOLK
|
Health Risk |
Likely pathogenic |
DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS387907031 |
ARHGAP31
|
Health Risk |
Pathogenic |
Adams-Oliver syndrome 1, Adams-Oliver syndrome 1 |
| RS387907032 |
LRSAM1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P |
| RS387907033 |
SYT14
|
Health Risk |
Pathogenic |
Autosomal recessive spinocerebellar ataxia 11, Autosomal recessive spinocerebellar ataxia 11 |
| RS387907034 |
INF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5 |
| RS387907035 |
INF2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate E |
| RS387907036 |
INF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5 |
| RS387907037 |
INF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5 |
| RS387907038 |
INF2
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease |
| RS387907039 |
FA2H
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 35, Intellectual disability |
| RS387907040 |
FA2H
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 35, Spastic paraplegia |
| RS387907041 |
ACAD9
|
Health Risk |
Pathogenic |
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS387907042 |
ACAD9
|
Health Risk |
Pathogenic/Likely pathogenic |
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS387907043 |
DNAJC5
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |