Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:92712657
- GRCh38:
- Chr1:92247100
| GLMN | E544*, E530* | Blue rubber bleb nevus | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:92737184
- GRCh38:
- Chr1:92271627
| GLMN | P254R | Blue rubber bleb nevus, Glomuvenous malformation | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:27212708
- GRCh38:
- Chr9:27212710
| TEK | Y897S, Y854S, Y749S, Y853S, Y896S | Blue rubber bleb nevus | Likely pathogenic
(May 11, 2021) | criteria provided, single submitter |