Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr13:31035588-31035591
- GRCh38:
- Chr13:30461451-30461454
| HMGB1 | K184fs | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Pathogenic
(Jun 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr13:31035583-31035586
- GRCh38:
- Chr13:30461446-30461449
| HMGB1 | E186fs | Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Pathogenic
(Jun 1, 2022) | no assertion criteria provided |