| RS2529367490 |
ANO10
|
Health Risk |
Pathogenic |
— |
| RS2529367691 |
ANO10
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS2529368984 |
ANO10
|
Health Risk |
Pathogenic |
— |
| RS2529370141 |
ANO10
|
Health Risk |
Pathogenic |
— |
| RS2529376937 |
ANO10
|
Health Risk |
Pathogenic |
— |
| RS2529386595 |
CFH
|
Health Risk |
Likely pathogenic |
Hemolytic uremic syndrome, atypical |
| RS2529425105 |
POGZ
|
Health Risk |
Pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529426630 |
POGZ
|
Health Risk |
Pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529428295 |
POGZ
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2529428468 |
POGZ
|
Health Risk |
Pathogenic |
— |
| RS2529438150 |
ABRAXAS1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2529438302 |
POGZ
|
Health Risk |
Likely pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS2529438348 |
POGZ
|
Health Risk |
Likely pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529441903 |
POGZ
|
Health Risk |
Likely pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529446712 |
ANO10
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS2529457082 |
RARB
|
Health Risk |
Likely pathogenic |
Microphthalmia, Microphthalmia |
| RS2529466865 |
CFH
|
Health Risk |
Pathogenic |
— |
| RS2529467049 |
CFH
|
Health Risk |
Pathogenic |
— |
| RS2529468609 |
PNPT1
|
Health Risk |
Pathogenic |
— |
| RS2529474366 |
CFH
|
Health Risk |
Likely pathogenic |
Hemolytic uremic syndrome, atypical |
| RS2529474661 |
CFH
|
Health Risk |
Pathogenic |
Hemolytic uremic syndrome, atypical |
| RS2529476843 |
PNPT1
|
Health Risk |
Pathogenic |
— |
| RS2529480434 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2529481366 |
PNPT1
|
Health Risk |
Likely pathogenic |
— |
| RS2529481421 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Cardiomyopathy |
| RS2529491095 |
MOGS
|
Health Risk |
Likely pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529496078 |
MOGS
|
Health Risk |
Pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529496158 |
MOGS
|
Health Risk |
Pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529496405 |
MOGS
|
Health Risk |
Pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529496737 |
POGZ
|
Health Risk |
Pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529499351 |
CFH
|
Health Risk |
Pathogenic |
Factor H deficiency, Factor H deficiency |
| RS2529503222 |
MOGS
|
Health Risk |
Pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529503594 |
MOGS
|
Health Risk |
Likely pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529503989 |
MOGS
|
Health Risk |
Likely pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529505867 |
MOGS
|
Health Risk |
Pathogenic |
MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation |
| RS2529507567 |
POGZ
|
Health Risk |
Pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529519437 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2529520604 |
CCR2
|
Health Risk |
Pathogenic |
Cystic disease of lung, Cystic disease of lung |
| RS2529521725 |
CCR2
|
Health Risk |
Pathogenic |
Cystic disease of lung, Cystic disease of lung |
| RS2529522692 |
PNPT1
|
Health Risk |
Likely pathogenic |
PNPT1-related disorder, PNPT1-related disorder |
| RS2529523659 |
PNPT1
|
Health Risk |
Pathogenic |
— |
| RS2529526177 |
POGZ
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2529534149 |
CFH
|
Health Risk |
Likely pathogenic |
Hemolytic uremic syndrome, atypical |
| RS2529535269 |
CCDC88A
|
Health Risk |
Pathogenic |
— |
| RS2529537059 |
PNPT1
|
Health Risk |
Likely pathogenic |
— |
| RS2529541638 |
PNPT1
|
Health Risk |
Likely pathogenic |
— |
| RS2529541976 |
POGZ
|
Health Risk |
Pathogenic |
— |
| RS2529542777 |
PNPT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13 |
| RS2529542808 |
POGZ
|
Health Risk |
Pathogenic |
— |
| RS2529542925 |
PNPT1
|
Health Risk |
Pathogenic |
— |
| RS2529543150 |
POGZ
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2529544865 |
CFH
|
Health Risk |
Likely pathogenic |
Hemolytic uremic syndrome, atypical |
| RS2529547139 |
MSL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Syndromic neurodevelopmental disorder, Karayol-Borroto-Haghshenas neurodevelopmental syndrome |
| RS2529548404 |
MSL2
|
Health Risk |
Pathogenic |
— |
| RS2529548450 |
MSL2
|
Health Risk |
Pathogenic |
— |
| RS2529549247 |
CFH
|
Health Risk |
Likely pathogenic |
Factor H deficiency, Hemolytic uremic syndrome |
| RS2529549823 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2529557310 |
CFH
|
Health Risk |
Likely pathogenic |
Hemolytic uremic syndrome, atypical |
| RS2529560640 |
PNPT1
|
Health Risk |
Pathogenic |
PNPT1-related disorder, PNPT1-related disorder |
| RS2529561797 |
CFH
|
Health Risk |
Likely pathogenic |
Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS2529561891 |
CFH
|
Health Risk |
Pathogenic/Likely pathogenic, low penetrance |
Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS2529569771 |
PNPT1
|
Health Risk |
Likely pathogenic |
— |
| RS2529576283 |
PNPT1
|
Health Risk |
Likely pathogenic |
— |
| RS2529577004 |
PNPT1
|
Health Risk |
Likely pathogenic |
PNPT1-related disorder, PNPT1-related disorder |
| RS2529600613 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529603438 |
DCAF17
|
Health Risk |
Likely pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529610489 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2529610539 |
DCAF17
|
Health Risk |
Pathogenic/Likely pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529622298 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2529622989 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2529624150 |
CACNA1C
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia, language delay |
| RS2529625584 |
CACNA1C
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Long QT syndrome |
| RS2529627773 |
PNPT1
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 25, Spinocerebellar ataxia type 25 |
| RS2529633179 |
TTN
|
Health Risk |
Likely pathogenic |
Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS2529656673 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529663010 |
MSL2
|
Health Risk |
Pathogenic |
Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder |
| RS2529667119 |
GGCX
|
Health Risk |
Pathogenic |
— |
| RS2529675165 |
GGCX
|
Health Risk |
Likely pathogenic |
— |
| RS2529678514 |
POGZ
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529679431 |
GGCX
|
Health Risk |
Likely pathogenic |
— |
| RS2529687764 |
DCAF17
|
Health Risk |
Likely pathogenic |
Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation |
| RS2529688102 |
DCAF17
|
Health Risk |
Likely pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529690772 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2529692681 |
POGZ
|
Health Risk |
Pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529693217 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2529693461 |
POGZ
|
Health Risk |
Likely pathogenic |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS2529700389 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529700532 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529700694 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529703104 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2529711754 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2529720274 |
DCAF17
|
Health Risk |
Likely pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529720590 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529720789 |
DCAF17
|
Health Risk |
Pathogenic |
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529731071 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2529731119 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2529731365 |
PCCB
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2529731543 |
PCCB
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2529731867 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS2529732029 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |