Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr12:8814699
- GRCh38:
- Chr12:8662103
| MFAP5 | M1T | Aortic aneurysm, familial thoracic 9 | Pathogenic
(Jun 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:8800817
- GRCh38:
- Chr12:8648221
| LOC126861443, MFAP5 | | not provided, not specified, Aortic aneurysm, familial thoracic 9
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:8808006
- GRCh38:
- Chr12:8655410
| MFAP5 | | Aortic aneurysm, familial thoracic 9, not specified, not provided,
Cardiovascular phenotype | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:8813491
- GRCh38:
- Chr12:8660895
| MFAP5 | W21L | not provided | Uncertain significance
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:8800737
- GRCh38:
- Chr12:8648141
| LOC126861443, MFAP5 | R158*, R133*, R136*, R148*, R94* | Isolated thoracic aortic aneurysm, Aortic aneurysm, familial thoracic 9, not provided
| Pathogenic/Likely pathogenic
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |