| RS2546682078 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546682451 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546693049 |
LRBA
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2546695945 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546696615 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546697844 |
GRID2
|
Health Risk |
Pathogenic/Likely pathogenic |
See cases, Autosomal recessive spinocerebellar ataxia 18 |
| RS2546697855 |
GRID2
|
Health Risk |
Likely pathogenic |
— |
| RS2546697890 |
GRID2
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2546709763 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546709825 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546709853 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546709883 |
MSH3
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546709890 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546709910 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546709935 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546709943 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546709951 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546709980 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Endometrial carcinoma, Familial adenomatous polyposis 4 |
| RS2546710032 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546710061 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546710109 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546710148 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546710209 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546710663 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546712108 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546712131 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546712234 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546712283 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546712297 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546712302 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2546712318 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546712693 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546713117 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546713542 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546713610 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546713623 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546713774 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546713783 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546713854 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546717151 |
MEF2C
|
Health Risk |
Likely pathogenic |
Autosomal dominant epilepsy, Autosomal dominant epilepsy |
| RS2546717368 |
MSH3
|
Health Risk |
Likely pathogenic |
— |
| RS2546717409 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546717431 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546717440 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546717479 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546717500 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546717522 |
MSH3
|
Health Risk |
Likely pathogenic |
— |
| RS2546718821 |
BRCA1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546721007 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546721032 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546721087 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2546721102 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546721122 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546721144 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546721160 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546721164 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2546721177 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546721199 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546721227 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 4, Endometrial carcinoma |
| RS2546721295 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546722368 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546722391 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546722393 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2546722418 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546722440 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546722471 |
MSH3
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546722848 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546722869 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546722877 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546722970 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546722995 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546723000 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Endometrial carcinoma, Familial adenomatous polyposis 4 |
| RS2546723476 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546723616 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546723652 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546724200 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546724290 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546724304 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546724360 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546724363 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546724398 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546724446 |
MSH3
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546724583 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546726522 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546726545 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546726573 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546726592 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2546726604 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546726612 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546726670 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2546726675 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 4, Endometrial carcinoma |
| RS2546726709 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546735615 |
ABCB4
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS2546736595 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546736793 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546736986 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS2546737159 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546737515 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546737746 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546739198 |
ABCB4
|
Health Risk |
Pathogenic |
— |