| RS1574326802 |
CKAP2L
|
Health Risk |
Likely pathogenic |
— |
| RS1574339529 |
BBS5
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 |
| RS1574340403 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS1574340607 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS1574341049 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS1574349073 |
KLHL41
|
Health Risk |
Likely pathogenic |
— |
| RS1574349645 |
KLHL41
|
Health Risk |
Pathogenic |
Nemaline myopathy 9, Nemaline myopathy 9 |
| RS1574354166 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS1574354515 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS1574362082 |
EDAR
|
Health Risk |
Pathogenic |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS1574368295 |
EDAR
|
Health Risk |
Pathogenic |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type |
| RS1574370981 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS1574371141 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS1574371399 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1574371737 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1574371902 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS1574373061 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS1574385431 |
CNGA3
|
Health Risk |
Pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS1574390600 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia, Achromatopsia |
| RS1574390728 |
ASXL2
|
Health Risk |
Pathogenic |
Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1574390811 |
CNGA3
|
Health Risk |
Likely pathogenic |
Achromatopsia 2, Achromatopsia 2 |
| RS1574390972 |
ASXL2
|
Health Risk |
Likely pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS1574391103 |
CNGA3
|
Health Risk |
Pathogenic |
Achromatopsia, Achromatopsia |
| RS1574391468 |
ASXL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1574395471 |
ASXL2
|
Health Risk |
Pathogenic |
Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1574395479 |
ASXL2
|
Health Risk |
Pathogenic |
Shashi-Pena syndrome, Shashi-Pena syndrome |
| RS1574415650 |
ABCB11
|
Health Risk |
Pathogenic |
— |
| RS1574415738 |
ABCB11
|
Health Risk |
Pathogenic |
— |
| RS1574415785 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574415799 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574423697 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1574423810 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS1574426870 |
CERKL
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 26, Retinitis pigmentosa 26 |
| RS1574434743 |
UNC80
|
Health Risk |
Likely pathogenic |
Hypotonia, infantile |
| RS1574435453 |
CERKL
|
Health Risk |
Likely pathogenic |
— |
| RS1574443133 |
SMARCAL1
|
Health Risk |
Pathogenic |
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1574443257 |
SMARCAL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia |
| RS1574445178 |
ABCB11
|
Health Risk |
Likely pathogenic |
Cholestasis, intrahepatic |
| RS1574450161 |
SMARCAL1
|
Health Risk |
Pathogenic/Likely pathogenic |
Inherited Immunodeficiency Diseases, Schimke immuno-osseous dysplasia |
| RS1574451881 |
MBD5
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS1574453486 |
ABCB11
|
Health Risk |
Pathogenic |
— |
| RS1574453508 |
ABCB11
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1574454654 |
CERKL
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Retinitis pigmentosa 26 |
| RS1574459072 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574459612 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS1574460069 |
MBD5
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS1574461269 |
MBD5
|
Health Risk |
Likely pathogenic |
— |
| RS1574462504 |
ABCB11
|
Health Risk |
Likely pathogenic |
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1574462520 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574464060 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Primary pulmonary hypertension |
| RS1574464121 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574464150 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574464160 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574464226 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574484218 |
MBD5
|
Health Risk |
Pathogenic |
— |
| RS1574485996 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574486038 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574486497 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574486566 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488277 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488314 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488346 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488353 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488357 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488412 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488484 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488490 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574488501 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574489046 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574489337 |
CERKL
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa 26 |
| RS1574492395 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574493773 |
BMPR2
|
Health Risk |
Pathogenic |
— |
| RS1574493841 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574494632 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574494655 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574499954 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Primary pulmonary hypertension |
| RS1574500018 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574505253 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574505321 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574505369 |
BMPR2
|
Health Risk |
Pathogenic |
Primary pulmonary hypertension, Primary pulmonary hypertension |
| RS1574506470 |
BMPR2
|
Health Risk |
Pathogenic |
Primary pulmonary hypertension, Primary pulmonary hypertension |
| RS1574506729 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574506732 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574506781 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574506790 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574506799 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574506914 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Primary pulmonary hypertension |
| RS1574506949 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Idiopathic and/or familial pulmonary arterial hypertension |
| RS1574506976 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507076 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507124 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507215 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507268 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507272 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507276 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507290 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574507331 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary arterial hypertension, Pulmonary arterial hypertension |
| RS1574509510 |
AKT3
|
Health Risk |
Conflicting classifications of pathogenicity |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
| RS1574510975 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1574511051 |
SATB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Intellectual disability |