| RS2533488312 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533488825 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533489360 |
TRIO
|
Health Risk |
Pathogenic |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2533489773 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533489812 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533489998 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533490558 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533490596 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Muscular dystrophy |
| RS2533490645 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533490979 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533491152 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |
| RS2533491237 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS2533491438 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS2533491654 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533492536 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533493881 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533494547 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |
| RS2533494568 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533496678 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533496896 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533497107 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533497995 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533498178 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533498805 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533499186 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533499387 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533499491 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533499731 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533499913 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533500157 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS2533500189 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533500295 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533500375 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533500576 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Sialic acid storage disease, severe infantile type |
| RS2533500760 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533501391 |
TRIO
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 63 |
| RS2533502014 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533503529 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533503977 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533504080 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533504443 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533504504 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533504630 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533504822 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533505244 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2533505635 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533505866 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS2533505955 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533505974 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS2533506131 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533506263 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Muscular dystrophy |
| RS2533506437 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533506554 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533507412 |
PKHD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533507734 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533507786 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533507830 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533508001 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533508589 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533508995 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533509237 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533509621 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2533509681 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Sialic acid storage disease, severe infantile type |
| RS2533510079 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533510123 |
TCOF1
|
Health Risk |
Likely pathogenic |
TCOF1-related disorder, TCOF1-related disorder |
| RS2533510482 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533510621 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533510673 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |
| RS2533510735 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533510783 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533510907 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533511205 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533511336 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533511487 |
SLC17A5
|
Health Risk |
Likely pathogenic |
— |
| RS2533511497 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533511844 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533513294 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533513507 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533514111 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533514467 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2533515258 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533515299 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533515402 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533515894 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533516925 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533516995 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533517428 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533517569 |
EYS
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2533517578 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533517681 |
EYS
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2533517835 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533518252 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533518599 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533518738 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533518970 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533519249 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, TCOF1-related disorder |
| RS2533519468 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533519850 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS2533519854 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS2533519945 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |