| RS1554084575 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084587 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084592 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1554084648 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1554084650 |
APC
|
Health Risk |
Likely pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS1554084658 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084685 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084698 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS1554084712 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084772 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084794 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084818 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084848 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084885 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084921 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084945 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084999 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085005 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Familial adenomatous polyposis 1 |
| RS1554085029 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS1554085038 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085046 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085053 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085081 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554085084 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085102 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1554085117 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1554085128 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085131 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085190 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085199 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085227 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Hereditary cancer-predisposing syndrome |
| RS1554085246 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Colon adenocarcinoma |
| RS1554085258 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554085303 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1554085307 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS1554085326 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085335 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554085355 |
APC
|
Health Risk |
Pathogenic |
Desmoid disease, hereditary |
| RS1554085372 |
DNAH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS1554085373 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085382 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Carcinoma of colon, Familial multiple polyposis syndrome |
| RS1554085429 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085450 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085478 |
CTNNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinal dystrophy, Patterned macular dystrophy 2 |
| RS1554085479 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1554085480 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085533 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554085539 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085560 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085632 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Neoplasm |
| RS1554085654 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085659 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1554085679 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554085714 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085817 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS1554085825 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085846 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Neoplasm |
| RS1554085850 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554085861 |
SLC22A5
|
Health Risk |
Likely pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1554085885 |
SLC22A5
|
Health Risk |
Pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1554085892 |
SLC22A5
|
Health Risk |
Likely pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1554085893 |
GLRA1
|
Health Risk |
Pathogenic |
Hyperekplexia 1, Hyperekplexia 1 |
| RS1554085898 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554085942 |
SLC22A5
|
Health Risk |
Pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1554085958 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis |
| RS1554085973 |
SLC22A5
|
Health Risk |
Likely pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1554085992 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086001 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086008 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086010 |
SLC22A5
|
Health Risk |
Pathogenic |
Renal carnitine transport defect, Renal carnitine transport defect |
| RS1554086015 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086030 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554086036 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554086084 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1554086134 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1554086138 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1554086165 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554086182 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554086185 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554086196 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Gastric cancer |
| RS1554086212 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086219 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554086262 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1554086263 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086285 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086324 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554086327 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Familial adenomatous polyposis 1 |
| RS1554086338 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554086340 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome |
| RS1554086363 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086368 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554086370 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554086402 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554086414 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554086415 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554086417 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554086435 |
ARSB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1554086436 |
GABRA1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 19 |
| RS1554086463 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554086550 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |