Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:239757079-239757080
- GRCh38:
- Chr2:238848438-238848439
| TWIST2 | | Barber-Say syndrome | Pathogenic
(Jul 2, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr2:239757079
- GRCh38:
- Chr2:238848438
| TWIST2 | E75Q | Barber-Say syndrome | Pathogenic
(Aug 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:239757080
- GRCh38:
- Chr2:238848439
| TWIST2 | E75A | Barber-Say syndrome | Pathogenic
(Jul 2, 2015) | no assertion criteria provided |