| RS397515784 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515785 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515786 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515788 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515789 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515790 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515791 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515792 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515793 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515794 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515796 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515797 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515798 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515799 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515800 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515801 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515802 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515803 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515804 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515805 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515806 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515808 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515810 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515811 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515812 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515814 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515816 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515817 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515818 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515819 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515820 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515821 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515823 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515824 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515825 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515826 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515827 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515828 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515829 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515830 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515831 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515833 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515834 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515836 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515837 |
FBN1
|
Health Risk |
Likely pathogenic |
— |
| RS397515840 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515841 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515842 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515844 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515845 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515846 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515847 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515848 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515849 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515851 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Isolated thoracic aortic aneurysm |
| RS397515852 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515853 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515854 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515857 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS397515859 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515861 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515863 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS397515864 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515865 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515866 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS397515867 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS397515868 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS397515870 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Cardiomyopathy |
| RS397515872 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Cardiovascular phenotype |
| RS397515873 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS397515874 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS397515875 |
MSH6
|
Health Risk |
Pathogenic/Likely pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS397515876 |
JAG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype |
| RS397515878 |
KCNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
KCNE1-related disorder, Long QT syndrome |
| RS397515879 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS397515880 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy 4 |
| RS397515881 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS397515882 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397515885 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS397515888 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397515889 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397515890 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397515891 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397515892 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397515893 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397515894 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397515895 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397515896 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397515897 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS397515903 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397515905 |
MYBPC3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397515907 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS397515910 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397515912 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397515913 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4 |
| RS397515915 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397515916 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397515918 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397515920 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397515922 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |