| RS2509622714 |
SOX9
|
Health Risk |
Likely pathogenic |
SOX9-related disorder, SOX9-related disorder |
| RS2509622985 |
SOX9
|
Health Risk |
Pathogenic |
SOX9-related disorder, SOX9-related disorder |
| RS2509623048 |
SOX9
|
Health Risk |
Pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509623396 |
SOX9
|
Health Risk |
Pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509624417 |
SOX9
|
Health Risk |
Pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509624560 |
SOX9
|
Health Risk |
Likely pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509624644 |
SOX9
|
Health Risk |
Likely pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509625913 |
SOX9
|
Health Risk |
Likely pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509626122 |
SOX9
|
Health Risk |
Likely pathogenic |
SOX9-related disorder, SOX9-related disorder |
| RS2509626302 |
SOX9
|
Health Risk |
Pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509626414 |
SOX9
|
Health Risk |
Likely pathogenic |
SOX9-related disorder, SOX9-related disorder |
| RS2509626553 |
SOX9
|
Health Risk |
Likely pathogenic |
SOX9-related disorder, SOX9-related disorder |
| RS2509627128 |
SOX9
|
Health Risk |
Pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509627304 |
SOX9
|
Health Risk |
Pathogenic |
— |
| RS2509627503 |
SOX9
|
Health Risk |
Pathogenic |
Camptomelic dysplasia, Camptomelic dysplasia |
| RS2509675736 |
SRP68
|
Health Risk |
Pathogenic |
Neutropenia, severe congenital |
| RS2509679289 |
PSMD12
|
Health Risk |
Likely pathogenic |
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS2509681813 |
DNAI2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9 |
| RS2509682200 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509684335 |
PSMD12
|
Health Risk |
Pathogenic |
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS2509685660 |
PSMD12
|
Health Risk |
Likely pathogenic |
PSMD12-related disorder, PSMD12-related disorder |
| RS2509692411 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509692646 |
DNAI2
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 9 |
| RS2509692803 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509693023 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509693120 |
DNAI2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509698486 |
FAM20A
|
Health Risk |
Pathogenic |
Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G |
| RS2509710080 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509726477 |
NDUFS3
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2509726707 |
NDUFS3
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2509729261 |
METTL23
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 44 |
| RS2509730596 |
METTL23
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 44 |
| RS2509732182 |
NDUFS3
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 8 |
| RS2509733625 |
METTL23
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal recessive 44 |
| RS2509734575 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509737683 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509739366 |
SLC12A6
|
Health Risk |
Pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509742940 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509743045 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509743068 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509743152 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509743158 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509743370 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509743391 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509743422 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509745854 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509745881 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509745923 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509745997 |
SLC12A6
|
Health Risk |
Likely pathogenic |
— |
| RS2509746048 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease, axonal |
| RS2509749812 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509749845 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509750248 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509750271 |
SLC12A6
|
Health Risk |
Likely pathogenic |
— |
| RS2509752143 |
DNAI2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509752180 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509752841 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509753124 |
SLC12A6
|
Health Risk |
Likely pathogenic |
— |
| RS2509753178 |
SLC12A6
|
Health Risk |
Pathogenic/Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509753342 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509753449 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509753551 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509753562 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509756006 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509756073 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509756088 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509756316 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509756403 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509756420 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509756451 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509761052 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509761252 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509761579 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509761843 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509761962 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509762743 |
DNAI2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509762865 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509764019 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509764027 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509764036 |
SLC12A6
|
Health Risk |
Pathogenic/Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509764361 |
SLC12A6
|
Health Risk |
Pathogenic/Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509766413 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509766795 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509766818 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509767248 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509767492 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509767575 |
SLC12A6
|
Health Risk |
Pathogenic |
— |
| RS2509773839 |
DNAI2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509773849 |
DNAI2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509773951 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509774238 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509774436 |
DNAI2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2509774595 |
DNAI2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 9, Primary ciliary dyskinesia 9 |
| RS2509775026 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509775205 |
SLC12A6
|
Health Risk |
Pathogenic/Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509777083 |
NPTX1
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |
| RS2509777500 |
NPTX1
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |
| RS2509779738 |
NPTX1
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |
| RS2509779896 |
SLC12A6
|
Health Risk |
Likely pathogenic |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS2509780141 |
NPTX1
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |