| RS1566899500 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566899541 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566899590 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
8 conditions, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566900469 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566900473 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566900492 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566900499 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566900540 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566901570 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566901605 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566902515 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566902526 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566902569 |
FBN1
|
Health Risk |
Pathogenic |
Geleophysic dysplasia 2, Geleophysic dysplasia 2 |
| RS1566903283 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566903524 |
KIAA0586
|
Health Risk |
Likely pathogenic |
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1566903532 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566903907 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566903914 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566903921 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566903931 |
FBN1
|
Health Risk |
Likely pathogenic |
MASS syndrome, MASS syndrome |
| RS1566903995 |
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 |
| RS1566904011 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566904526 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566905976 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566905978 |
FBN1
|
Health Risk |
Pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS1566906389 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566906506 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566906537 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566906827 |
F7
|
Health Risk |
Pathogenic |
Congenital factor VII deficiency, Congenital factor VII deficiency |
| RS1566907313 |
RASGRP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Immunodeficiency 64, Immunodeficiency 64 |
| RS1566908063 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566908083 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566908947 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566908956 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566909483 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566909547 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566909762 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566909766 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566909798 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566909885 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566910251 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566910918 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1566911331 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566911709 |
FBN1
|
Health Risk |
Pathogenic |
MASS syndrome, Marfan syndrome |
| RS1566911724 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566911871 |
PCCA
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1566911886 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566911908 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566911942 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566911957 |
FBN1
|
Health Risk |
Pathogenic |
8 conditions, 8 conditions |
| RS1566912242 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Acute aortic dissection, Congenital aneurysm of ascending aorta |
| RS1566913670 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566913685 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566913969 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566913974 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566913982 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566913983 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, 8 conditions |
| RS1566914005 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566914030 |
FBN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566914907 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, 8 conditions |
| RS1566915277 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566915335 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566916671 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566916969 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566917979 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566918060 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566918075 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566919599 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566919637 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566921085 |
FAN1
|
Health Risk |
Pathogenic |
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS1566922396 |
FBN1
|
Health Risk |
Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566922422 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566929134 |
TDP1
|
Health Risk |
Likely pathogenic |
— |
| RS1566934693 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566935193 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1566935514 |
FBN1
|
Health Risk |
Likely pathogenic |
— |
| RS1566935517 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566936542 |
IVD
|
Health Risk |
Pathogenic/Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1566937712 |
FBN1
|
Health Risk |
Likely pathogenic |
Marfan syndrome, Marfan syndrome |
| RS1566938153 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1566940436 |
IVD
|
Health Risk |
Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1566943451 |
IVD
|
Health Risk |
Pathogenic/Likely pathogenic |
Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency |
| RS1566944812 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566944839 |
FBN1
|
Health Risk |
Pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS1566945534 |
SLC24A1
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Congenital stationary night blindness 1D |
| RS1566945996 |
PCCA
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1566946168 |
LIPC
|
Health Risk |
Pathogenic |
Hyperlipidemia due to hepatic triglyceride lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency |
| RS1566947860 |
SLC24A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS1566954070 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS1566954813 |
UBE3A
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1566959617 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS1566961418 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS1566965796 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1566965806 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A |
| RS1566965857 |
CAPN3
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy |
| RS1566967399 |
ACTC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Dilated cardiomyopathy 1R |
| RS1566969054 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS1566971699 |
DUOX2
|
Health Risk |
Pathogenic/Likely pathogenic |
Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS1566971734 |
CEP152
|
Health Risk |
Likely pathogenic |
— |
| RS1566972341 |
GALC
|
Health Risk |
Pathogenic |
— |