Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr20:25062321
- GRCh38:
- Chr20:25081685
| VSX1 | V138I | Craniofacial anomalies and anterior segment dysgenesis syndrome | Benign
(Apr 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:25062731
- GRCh38:
- Chr20:25082095
| VSX1 | M1K | Craniofacial anomalies and anterior segment dysgenesis syndrome, Keratoconus 1, not provided
| Likely benign
(May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:25058389
- GRCh38:
- Chr20:25077753
| VSX1 | P247R, P16R | Polymorphous corneal dystrophy, not provided, Keratoconus 1,
Craniofacial anomalies and anterior segment dysgenesis syndrome | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:25058363
- GRCh38:
- Chr20:25077727
| VSX1 | A256S, A25S | not specified | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |