| RS1555399149 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555399150 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399158 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399159 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS1555399160 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399162 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399164 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399165 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS1555399166 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399193 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399195 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399202 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399204 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399205 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399206 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399210 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399214 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399257 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555399270 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399271 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555399273 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399278 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555399281 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399288 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555399289 |
ZFYVE26
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS1555399361 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555399365 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399368 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399371 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399372 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome |
| RS1555399378 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399379 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399381 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399385 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399387 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555399388 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399477 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399481 |
FBN1
|
Health Risk |
Pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399482 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399484 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399748 |
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 |
| RS1555399761 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399762 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS1555399763 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399764 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399769 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS1555399770 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555399775 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399779 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555399802 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399804 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399816 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399821 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399825 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399827 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS1555399835 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399836 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399837 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399839 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399840 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399890 |
UBE3A
|
Health Risk |
Pathogenic |
— |
| RS1555399937 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS1555399940 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399943 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399944 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399949 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399952 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399953 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399954 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399955 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399958 |
FBN1
|
Health Risk |
Likely pathogenic |
— |
| RS1555399959 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399962 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399963 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Cardiovascular phenotype |
| RS1555399968 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399974 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399976 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Marfan syndrome |
| RS1555399977 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555399978 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555399980 |
UBE3A
|
Health Risk |
Likely pathogenic |
— |
| RS1555400049 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Acromicric dysplasia |
| RS1555400052 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400062 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555400063 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400064 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400066 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400067 |
UBE3A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555400077 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1555400239 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS1555400267 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555400268 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555400274 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400278 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400279 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400281 |
FBN1
|
Health Risk |
Pathogenic |
— |
| RS1555400285 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400288 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400371 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1555400372 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1555400373 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |