| RS1555395260 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555395261 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395263 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395267 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395288 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555395456 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395461 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395475 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555395480 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395482 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395483 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395486 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395489 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395524 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555395525 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555395560 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555395636 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395638 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395640 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555395641 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395645 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395648 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395652 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555395653 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395658 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395659 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395661 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555395663 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555395665 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555395667 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395670 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Isolated thoracic aortic aneurysm |
| RS1555395742 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555395743 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Marfan syndrome |
| RS1555395745 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395747 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395750 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555395753 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395756 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395757 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395762 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395766 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395767 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395818 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395819 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395820 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395825 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555395826 |
FBN1
|
Health Risk |
Pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555395827 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395830 |
FBN1
|
Health Risk |
Likely pathogenic |
Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm |
| RS1555395840 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395843 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395846 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395849 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Squamous cell lung carcinoma |
| RS1555395972 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS1555395978 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395980 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395981 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555395984 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395985 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395987 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555395989 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555395990 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396108 |
PCCA
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555396185 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555396186 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396188 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396198 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396199 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396201 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396202 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396205 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396213 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396303 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Spastic paraplegia |
| RS1555396417 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555396418 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396419 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396424 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396426 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396427 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396428 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Marfan syndrome |
| RS1555396429 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396435 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396629 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396630 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396635 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396636 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396638 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396639 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396754 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS1555396757 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396760 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396765 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396769 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396783 |
FBN1
|
Health Risk |
Pathogenic |
Weill-Marchesani syndrome 2, dominant |
| RS1555396789 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396835 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555396837 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555396838 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396844 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555396848 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |