Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:123542048
- GRCh38:
- Chr4:122620893
| IL21, IL21-AS1, LOC126807147 | R40H | not provided, IL21-related infantile inflammatory bowel disease | Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:123536963
- GRCh38:
- Chr4:122615808
| IL21 | | not provided, not specified, IL21-related infantile inflammatory bowel disease
| Benign
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:123542021
- GRCh38:
- Chr4:122620866
| LOC126807147, IL21-AS1, IL21 | L49P | IL21-related infantile inflammatory bowel disease | Pathogenic
(Apr 17, 2014) | no assertion criteria provided |