| RS2510289229 |
CCDC40
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2510289393 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15 |
| RS2510289441 |
CCDC40
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15 |
| RS2510290432 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2510295726 |
CCDC40
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2510295858 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2510295924 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15 |
| RS2510300272 |
TANC2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2510315381 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2510317115 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2510320263 |
CCDC40
|
Health Risk |
Likely pathogenic |
CCDC40-related disorder, CCDC40-related disorder |
| RS2510324631 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2510328737 |
CCDC40
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2510329001 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510342858 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510343698 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510344258 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510344492 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510344757 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510345577 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510346450 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510346546 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510346597 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510346727 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510347067 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510347326 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510347530 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510347650 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510347655 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510348338 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510349919 |
TANC2
|
Health Risk |
Likely pathogenic |
TANC2-related disorder, TANC2-related disorder |
| RS2510350392 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510350400 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510350438 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510350807 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510353223 |
GNAL
|
Health Risk |
Pathogenic |
Dystonic disorder, Dystonic disorder |
| RS2510354948 |
KANSL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Koolen-de Vries syndrome, Inborn genetic diseases |
| RS2510357510 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510357571 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510357615 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510358298 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510358559 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510358612 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510359114 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510359227 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510359237 |
GAA
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease, type II |
| RS2510359261 |
GAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type II |
| RS2510359497 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510359539 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510359631 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510361928 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510362015 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510362025 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510363378 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510363449 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510364501 |
GAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type II |
| RS2510364535 |
GAA
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease, type II |
| RS2510364645 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510364649 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510364922 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510365079 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510369147 |
TBCD
|
Health Risk |
Pathogenic |
— |
| RS2510369372 |
TBCD
|
Health Risk |
Likely pathogenic |
Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2510369568 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510369910 |
GAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type II |
| RS2510369993 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510370057 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510370078 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510370572 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510370609 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510370699 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510373785 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510373966 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510373982 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510374041 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510374682 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510374790 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510374858 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510375020 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510378477 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510378539 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510378592 |
GAA
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease, type II |
| RS2510378668 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510378832 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510378853 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510378879 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510378916 |
GAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type II |
| RS2510381346 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510381384 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510381595 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510381693 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510383199 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510383208 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510383585 |
GAA
|
Health Risk |
Likely pathogenic |
— |
| RS2510384001 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510384097 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510384153 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510384203 |
GAA
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type II |
| RS2510384208 |
GAA
|
Health Risk |
Pathogenic |
Glycogen storage disease, type II |
| RS2510384401 |
GAA
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type II |