Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr3:147130419
- GRCh38:
- Chr3:147412632
| ZIC1 | M366K | Craniosynostosis 6, not specified | Uncertain significance
(Sep 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:147131147
- GRCh38:
- Chr3:147413360
| ZIC1 | E385* | Craniosynostosis 6 | Likely pathogenic
(May 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:147131192
- GRCh38:
- Chr3:147413405
| ZIC1 | G400R | Craniosynostosis 6 | Pathogenic
(Jan 15, 2020) | no assertion criteria provided |