Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:19564040-19954016
| BCLAF3, SH3KBP1 | | Immunodeficiency 61 | Uncertain significance
(May 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19606793
- GRCh38:
- ChrX:19588675
| SH3KBP1 | | Immunodeficiency 61, not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:19667630-19886572
| SH3KBP1 | | Immunodeficiency 61 | Pathogenic
(Apr 22, 2019) | no assertion criteria provided |