Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:123480512
- GRCh38:
- ChrX:124346662
| SH2D1A | Y7C | X-linked lymphoproliferative syndrome | Pathogenic
(Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:123499636
- GRCh38:
- ChrX:124365786
| SH2D1A | R55* | X-linked lymphoproliferative syndrome, not provided, X-linked lymphoproliferative disease due to SH2D1A deficiency
| Pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |