Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:53564513
- GRCh38:
- ChrX:53537552
| HUWE1 | | Trigonocephaly-short stature-developmental delay syndrome | Uncertain significance
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:53674519
- GRCh38:
- ChrX:53647576
| HUWE1 | | Trigonocephaly-short stature-developmental delay syndrome | Likely pathogenic | criteria provided, single submitter |