Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:204735656
- GRCh38:
- Chr2:203870933
| CTLA4 | D153N, A153T | not provided, Hashimoto thyroiditis, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,
Celiac disease, susceptibility to, 3, Systemic lupus erythematosus, Type 1 diabetes mellitus 12
| Conflicting interpretations of pathogenicity
(Feb 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:204735609
- GRCh38:
- Chr2:203870886
| CTLA4 | P137L | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, not provided, Systemic lupus erythematosus,
Type 1 diabetes mellitus 12, Celiac disease, susceptibility to, 3, Hashimoto thyroiditis,
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:204738919
- GRCh38:
- Chr2:203874196
| CTLA4 | | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | Benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:204732714
- GRCh38:
- Chr2:203867991
| CTLA4 | T17A | not specified, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, not provided
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |