| RS2149877994 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149878177 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149878625 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149878645 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149878966 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149879006 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149879114 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149879138 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149879206 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149879223 |
ZEB2
|
Health Risk |
Likely pathogenic |
— |
| RS2149879342 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149879574 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS2149879695 |
ZEB2
|
Health Risk |
Pathogenic |
— |
| RS2149879709 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149880199 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149880355 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS2149880739 |
APC
|
Health Risk |
Likely pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS2149882424 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149882559 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149882615 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2149882824 |
APC
|
Health Risk |
Likely pathogenic |
Colorectal cancer, Familial adenomatous polyposis 1 |
| RS2149884084 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149884161 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149884210 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149884247 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149884384 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149885099 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149885426 |
KLHL3
|
Health Risk |
Likely pathogenic |
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS2149887251 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149887293 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS2149887555 |
NSD1
|
Health Risk |
Pathogenic |
NSD1-related disorder, Intellectual disability |
| RS2149887853 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS2149887912 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149887995 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149888223 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149888377 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149888710 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149888975 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149889364 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Sotos syndrome |
| RS2149889821 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149891139 |
ZEB2
|
Health Risk |
Pathogenic |
Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149891392 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149891437 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149891925 |
TBCK
|
Health Risk |
Pathogenic |
— |
| RS2149891970 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149892043 |
APC
|
Health Risk |
Likely pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS2149892395 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149892641 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149893078 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2149893243 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149893274 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149893575 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149893647 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149894773 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149894799 |
NSD1
|
Health Risk |
Pathogenic |
Sotos syndrome, Sotos syndrome |
| RS2149894857 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS2149894885 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149895625 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149896180 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149896379 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149897052 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2149897607 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149897853 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149898255 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149898263 |
APC
|
Health Risk |
Pathogenic |
Hepatoblastoma, Familial adenomatous polyposis 1 |
| RS2149898504 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149898795 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149898912 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149899129 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149899468 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS2149899615 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149899647 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS2149899679 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149899719 |
NSD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Sotos syndrome, Sotos syndrome |
| RS2149900353 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2149901159 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149901204 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149901242 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149901744 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149901776 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149901988 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis |
| RS2149902263 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149902766 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149903298 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149904036 |
IL7R
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency 104, Immunodeficiency 104 |
| RS2149904394 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS2149904428 |
NSD1
|
Health Risk |
Pathogenic |
— |
| RS2149904640 |
NSD1
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2149904709 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2149904888 |
COA7
|
Health Risk |
Likely pathogenic |
— |
| RS2149905506 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149907596 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149907906 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149908008 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS2149908525 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149908617 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Desmoid disease |
| RS2149908830 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149909485 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149909613 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2149910406 |
APC
|
Health Risk |
Pathogenic |
— |