Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:189870152
- GRCh38:
- Chr2:189005426
| COL3A1 | L1003P | Aortic aneurysm, familial thoracic 2 | Uncertain significance
(May 17, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:127700329
- GRCh38:
- Chr5:128364636
| FBN2 | G798S | Loeys-Dietz syndrome, Aortic aneurysm, familial thoracic 2 | Uncertain significance
(Jul 15, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:48719869
- GRCh38:
- Chr15:48427672
| FBN1 | G2367R | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
not provided | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153587999
- GRCh38:
- ChrX:154359631
| FLNA | D1332G | Melnick-Needles syndrome, Heterotopia, periventricular, X-linked dominant, Oto-palato-digital syndrome, type II,
Frontometaphyseal dysplasia, not provided, Familial thoracic aortic aneurysm and aortic dissection
| Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:45355584
- GRCh38:
- Chr20:46726945
| SLC2A10 | A457V | not provided, Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome,
not specified | Conflicting interpretations of pathogenicity
(Feb 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90701551
- GRCh38:
- Chr10:88941794
| ACTA2 | R149C, R106C, R112C | not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
| Pathogenic
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |