| RS2141206676 |
MPI
|
Health Risk |
Pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141206722 |
MPI
|
Health Risk |
Pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141206921 |
MPI
|
Health Risk |
Likely pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141208628 |
MPI
|
Health Risk |
Likely pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141208718 |
MPI
|
Health Risk |
Pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141208760 |
MPI
|
Health Risk |
Pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141209492 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141209520 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141209567 |
MPI
|
Health Risk |
Pathogenic/Likely pathogenic |
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141209667 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141209783 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141209879 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141209965 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141210000 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141210009 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141210158 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141210355 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS2141211556 |
FBN1
|
Health Risk |
Pathogenic |
Acromicric dysplasia, Acromicric dysplasia |
| RS2141211611 |
USP7
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2141211729 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141211736 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141211820 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214505 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214507 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214520 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214595 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214610 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141214616 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214634 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141214637 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214712 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214738 |
CREBBP
|
Health Risk |
Pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS2141214772 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214889 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141214897 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141215483 |
USP7
|
Health Risk |
Likely pathogenic |
Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2141216768 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141219467 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome |
| RS2141219910 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141219970 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141220506 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141220600 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141220616 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141220626 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141220647 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141220791 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141220835 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141220859 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141220862 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141221307 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141221357 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141221533 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141221739 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141221743 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141221768 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141221899 |
FBN1
|
Health Risk |
Likely pathogenic |
Acromicric dysplasia, Acromicric dysplasia |
| RS2141221916 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141221934 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141221984 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141222003 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141222379 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141222456 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141222494 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141222500 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141222615 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141224217 |
CAPN3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS2141225080 |
MEIS2
|
Health Risk |
Likely pathogenic |
Cardiac malformation, cleft lip/palate |
| RS2141225123 |
MEIS2
|
Health Risk |
Pathogenic |
Cardiac malformation, cleft lip/palate |
| RS2141225604 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141225644 |
CAPN3
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS2141226269 |
FBN1
|
Health Risk |
Pathogenic |
Connective tissue disorder, Marfan syndrome |
| RS2141226319 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141226337 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141226409 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141226412 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141226866 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141226916 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141226930 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141226991 |
FBN1
|
Health Risk |
Pathogenic |
Acromicric dysplasia, Acromicric dysplasia |
| RS2141227006 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141228362 |
EFL1
|
Health Risk |
Pathogenic |
Shwachman-Diamond syndrome 2, Shwachman-Diamond syndrome 2 |
| RS2141228932 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141229101 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141229138 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141229433 |
OCA2
|
Health Risk |
Pathogenic |
— |
| RS2141229796 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141229819 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141229903 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS2141229950 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141229990 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141230021 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141230207 |
GRIN2A
|
Health Risk |
Likely pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141230262 |
GRIN2A
|
Health Risk |
Likely pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141230279 |
GRIN2A
|
Health Risk |
Likely pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141230698 |
GRIN2A
|
Health Risk |
Likely pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141231277 |
GRIN2A
|
Health Risk |
Pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2141232407 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141232415 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS2141232462 |
CREBBP
|
Health Risk |
Likely pathogenic |
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations |
| RS2141232534 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |