| RS2533551890 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533552213 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533552429 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533552461 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533552479 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533552579 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533553014 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533553385 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533553419 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2533553572 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533553813 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533553936 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533554073 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533554189 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533554981 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533555090 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533555341 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533556336 |
DNAH8
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2533557589 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS2533557906 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533558063 |
DNAH8
|
Health Risk |
Likely pathogenic |
Spermatogenic failure 46, Spermatogenic failure 46 |
| RS2533560020 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533561048 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533561730 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533562200 |
TRIO
|
Health Risk |
Likely pathogenic |
TRIO-related disorder, TRIO-related disorder |
| RS2533562422 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533563070 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Muscular dystrophy |
| RS2533563091 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2533563164 |
TRIO
|
Health Risk |
Likely pathogenic |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2533563253 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533563458 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533563652 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2533563824 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533564562 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Neoplasm |
| RS2533565254 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533566243 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2533567515 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533568987 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533570013 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, APC-related disorder |
| RS2533570106 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533570172 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533570785 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533571110 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533571418 |
TRDN
|
Health Risk |
Likely pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 5 |
| RS2533571579 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533572850 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533572948 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533573269 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533573514 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533573846 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533573870 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533573874 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533573921 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533574052 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533574070 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533574075 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533574282 |
FARS2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14 |
| RS2533574370 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533574371 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533574979 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533575428 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533575873 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533576756 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533577691 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Neoplasm |
| RS2533579329 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533579552 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533579866 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533579941 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533580719 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533581230 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533581626 |
DTNBP1
|
Health Risk |
Pathogenic |
— |
| RS2533582208 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533582305 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533582499 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533582735 |
TRIO
|
Health Risk |
Likely pathogenic |
TRIO-related disorder, TRIO-related disorder |
| RS2533583241 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533583362 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533585099 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533586171 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533586897 |
CTNNA1
|
Health Risk |
Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533587490 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533587597 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2533587831 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2533587832 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533588295 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533588410 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533588432 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533588489 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533588503 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533588559 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533589177 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533589238 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2533589473 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533589501 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533589704 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533589742 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2533590197 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533590608 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533590867 |
WDFY3
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2533591369 |
KCNQ5
|
Health Risk |
Conflicting classifications of pathogenicity |
— |