Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:1374774
- GRCh38:
- Chr4:1380986
| UVSSA | P620L | UV-sensitive syndrome 3 | Benign
(Nov 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:1341973
- GRCh38:
- Chr4:1348185
| UVSSA | C32R | UV-sensitive syndrome 3 | Pathogenic
(May 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr4:1341966
- GRCh38:
- Chr4:1348178
| UVSSA | I31fs | UV-sensitive syndrome 3 | Pathogenic
(May 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr4:1343580
- GRCh38:
- Chr4:1349792
| UVSSA | K123* | UV-sensitive syndrome 3 | Pathogenic
(May 1, 2012) | no assertion criteria provided |