| | MYLK | | Congenital aneurysm of ascending aorta | Likely pathogenic
(Dec 28, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:67457297
- GRCh38:
- Chr15:67164959
| SMAD3 | | Familial thoracic aortic aneurysm and aortic dissection | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708581
- GRCh38:
- Chr10:88948824
| ACTA2 | I36T | not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6,
not specified | Uncertain significance
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:48789549
- GRCh38:
- Chr15:48497352
| FBN1 | N736S | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
| Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48779544
- GRCh38:
- Chr15:48487347
| FBN1 | G1143D | Marfan syndrome | Likely pathogenic
(Feb 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48704871
- GRCh38:
- Chr15:48412674
| FBN1 | D2707E | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48726811
- GRCh38:
- Chr15:48434614
| FBN1 | G2199D | Acute aortic dissection, Congenital aneurysm of ascending aorta | Uncertain significance
(Jan 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:48722873
- GRCh38:
- Chr15:48430676
| FBN1 | C2289F | Familial thoracic aortic aneurysm and aortic dissection | Likely pathogenic
(Mar 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48826326
- GRCh38:
- Chr15:48534129
| FBN1 | C271W | Familial thoracic aortic aneurysm and aortic dissection | Likely pathogenic
(Sep 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:47882592
- GRCh38:
- Chr1:47416920
| LINC01389, FOXE3 | P202L | Congenital primary aphakia, Anterior segment dysgenesis | Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:47882321
- GRCh38:
- Chr1:47416649
| FOXE3, LINC01389 | P112S | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis
| Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:47882453
- GRCh38:
- Chr1:47416781
| FOXE3, LINC01389 | D156N | Cardiovascular phenotype, Congenital primary aphakia, Anterior segment dysgenesis
| Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:47882477
- GRCh38:
- Chr1:47416805
| FOXE3, LINC01389 | R164S | Congenital primary aphakia, Anterior segment dysgenesis | Uncertain significance
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:121413221
- GRCh38:
- Chr5:122077526
| LOX, SRFBP1 | L154F | Cardiovascular phenotype, not provided | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:121406276
- GRCh38:
- Chr5:122070581
| LOX, SRFBP1 | S348R, S51R, S118R | Cardiovascular phenotype, not provided | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:121411234
- GRCh38:
- Chr5:122075539
| LOX, SRFBP1 | T248I, T18I | Acute aortic dissection, Congenital aneurysm of ascending aorta | Pathogenic
(Jan 12, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:121413077
- GRCh38:
- Chr5:122077382
| LOX, SRFBP1 | G202* | Cardiovascular phenotype, not provided | Pathogenic/Likely pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:189862453
- GRCh38:
- Chr2:188997727
| COL3A1 | G633R | Ehlers-Danlos syndrome, type 4 | Likely pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:67473635
- GRCh38:
- Chr15:67181297
| SMAD3 | E239*, E44*, E134*, E195* | Congenital aneurysm of ascending aorta | risk factor | no assertion criteria provided |
| - GRCh37:
- Chr5:121413446
- GRCh38:
- Chr5:122077751
| SRFBP1, LOX | A79T | Cardiovascular phenotype, Inborn genetic diseases, not provided
| Uncertain significance
(Jan 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:123427730
- GRCh38:
- Chr3:123708883
| MYLK | P652R, P583R, P476R | Congenital aneurysm of ascending aorta, Aortic aneurysm, familial thoracic 7, Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
| Uncertain significance
(Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:15841759
- GRCh38:
- Chr16:15747902
| MYH11 | M748T, M741T | Congenital aneurysm of ascending aorta | Uncertain significance
(Oct 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48713798
- GRCh38:
- Chr15:48421601
| FBN1 | C2552* | Marfan syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection
| Pathogenic
(Mar 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:15812291
- GRCh38:
- Chr16:15718434
| MYH11, NDE1 | A1733T, A1726T | Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection, not provided
| Conflicting interpretations of pathogenicity
(Sep 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:15815461
- GRCh38:
- Chr16:15721604
| MYH11, NDE1 | K1473Q, K1466Q | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4 | Uncertain significance
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:47882397
- GRCh38:
- Chr1:47416725
| FOXE3, LINC01389 | G137D | Congenital aneurysm of ascending aorta, Acute aortic dissection, Aortic aneurysm, familial thoracic 11, susceptibility to
| Likely pathogenic; risk factor
(Jan 6, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:47882444
- GRCh38:
- Chr1:47416772
| FOXE3, LINC01389 | D153H | Anterior segment dysgenesis, Congenital primary aphakia, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity
(Nov 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:15841541
- GRCh38:
- Chr16:15747684
| MYH11 | S766N, S773N | not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
not specified, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | Uncertain significance
(Dec 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:121411177
- GRCh38:
- Chr5:122075482
| LOX, SRFBP1 | Q267P, Q37P | Congenital aneurysm of ascending aorta, Acute aortic dissection, Aortic aneurysm, familial thoracic 10
| Pathogenic
(Oct 24, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:121413556
- GRCh38:
- Chr5:122077861
| LOX, SRFBP1 | W42* | Familial thoracic aortic aneurysm and aortic dissection | Likely pathogenic
(Nov 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:121411138
- GRCh38:
- Chr5:122075443
| LOX, SRFBP1 | S280I, S50I | Aortic aneurysm, familial thoracic 10, Congenital aneurysm of ascending aorta, Acute aortic dissection
| Pathogenic
(Oct 24, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:48796004
- GRCh38:
- Chr15:48503807
| FBN1 | P698L | not specified, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:123458823
- GRCh38:
- Chr3:123739976
| MYLK | Q133H | Congenital aneurysm of ascending aorta, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Megacystis, microcolon, hypoperistalsis syndrome, not specified, Aortic aneurysm, familial thoracic 7
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30691910
- GRCh38:
- Chr3:30650418
| TGFBR2 | C138G, C163G, C103G, C147G | Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48719928-48719929
- GRCh38:
- Chr15:48427731-48427732
| FBN1 | | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
not provided, Familial thoracic aortic aneurysm and aortic dissection, Weill-Marchesani syndrome 2, dominant,
Marfan syndrome | Pathogenic
(Jul 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:15820795-15820797
- GRCh38:
- Chr16:15726938-15726940
| MYH11 | K1263del, K1256del | not specified, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
not provided | Conflicting interpretations of pathogenicity
(Jan 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30733044
- GRCh38:
- Chr3:30691552
| TGFBR2 | S578T, S553T, S554T, S433T, S458T, S518T, S552T, S562T, S589T, S614T, S263T | not specified, Connective tissue disorder, Ehlers-Danlos syndrome,
not provided, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection,
Loeys-Dietz syndrome, Marfan syndrome | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:15872688
- GRCh38:
- Chr16:15778831
| MYH11 | R254C, R247C | Inborn genetic diseases, Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection,
not specified, Aortic aneurysm, familial thoracic 4, not provided,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48776056
- GRCh38:
- Chr15:48483859
| FBN1 | Y1266F | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, not provided,
Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Nov 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:30713834
- GRCh38:
- Chr3:30672342
| TGFBR2 | V387M, V412M, V267M, V423M, V448M, V396M, V352M, V292M, V388M | Marfan syndrome, Ehlers-Danlos syndrome, not specified,
Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6,
Malignant tumor of esophagus, not providedLoeys-Dietz syndrome,
...see more | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48764814
- GRCh38:
- Chr15:48472617
| FBN1, LOC126862124 | P1424A | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome, MASS syndrome,
Progeroid and marfanoid aspect-lipodystrophy syndrome, Acromicric dysplasia, Geleophysic dysplasia 2,
Stiff skin syndrome, Weill-Marchesani syndrome 2, dominantEctopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
not specified, Geleophysic dysplasia, not provided,
Acromicric dysplasia, ...see more | Conflicting interpretations of pathogenicity
(Dec 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48905269
- GRCh38:
- Chr15:48613072
| FBN1 | R62H | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection, not specified, not provided
| Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48760724
- GRCh38:
- Chr15:48468527
| FBN1 | N1489K | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome | Conflicting interpretations of pathogenicity
(Feb 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:48779352
- GRCh38:
- Chr15:48487155
| FBN1 | R1170H | Marfan syndrome | Benign
(Feb 1, 2023) | reviewed by expert panel
FDA Recognized Database |