| RS2546742706 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546743073 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546743083 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546743308 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546743814 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546745451 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546745461 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2546745553 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546745666 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2546746413 |
ABCB4
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS2546749070 |
CRPPA
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS2546749179 |
CRPPA
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS2546751311 |
ABCB4
|
Health Risk |
Likely pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS2546752943 |
MSH3
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546752955 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546752975 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546752982 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546752993 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2546753056 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546753058 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546754572 |
ABCB4
|
Health Risk |
Likely pathogenic |
— |
| RS2546754598 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546754612 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546754625 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546754646 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546754680 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546754685 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2546754698 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546754746 |
MSH3
|
Health Risk |
Likely pathogenic |
— |
| RS2546755417 |
MATR3
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |
| RS2546759145 |
CRPPA
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS2546759287 |
CRPPA
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS2546759308 |
CRPPA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2546759860 |
ABCB4
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS2546759885 |
ABCB4
|
Health Risk |
Likely pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS2546760401 |
MSH3
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546760478 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546760498 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546760509 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Familial adenomatous polyposis 4 |
| RS2546760511 |
MSH3
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546762027 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546762095 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546763615 |
ABCB4
|
Health Risk |
Likely pathogenic |
— |
| RS2546763854 |
NEK1
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS2546764617 |
NEK1
|
Health Risk |
Likely pathogenic |
Amyotrophic lateral sclerosis, susceptibility to |
| RS2546769967 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546770028 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546770047 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546770048 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546770059 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546770085 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546770092 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546770108 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546770130 |
MSH3
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546772331 |
ABCB4
|
Health Risk |
Pathogenic |
— |
| RS2546772400 |
ABCB4
|
Health Risk |
Pathogenic |
— |
| RS2546773528 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546773533 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546773567 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546773572 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546773676 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546773716 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546773723 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546773736 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546773743 |
MSH3
|
Health Risk |
Pathogenic |
MSH3-related disorder, MSH3-related disorder |
| RS2546773761 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546774149 |
MSH3
|
Health Risk |
Likely pathogenic |
— |
| RS2546774163 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |
| RS2546774170 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774176 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774178 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546774182 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546774188 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774207 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774227 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS2546774248 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546774251 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546774255 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2546774313 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774331 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546774332 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774337 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774346 |
MSH3
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546774426 |
CEP63
|
Health Risk |
Pathogenic |
— |
| RS2546776163 |
ABCB4
|
Health Risk |
Likely pathogenic |
ABCB4-related disorder, ABCB4-related disorder |
| RS2546777870 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546777872 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546777891 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546777907 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS2546779510 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546779547 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546779556 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546779563 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546779597 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546779623 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546779627 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS2546779634 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2546784272 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546784276 |
MSH3
|
Health Risk |
Pathogenic |
— |
| RS2546784289 |
MSH3
|
Health Risk |
Likely pathogenic |
Endometrial carcinoma, Endometrial carcinoma |