| - GRCh37:
- Chr16:50745656
- GRCh38:
- Chr16:50711745
| NOD2 | A612S, A585S | Blau syndrome, Inflammatory bowel disease 1, Blau syndrome,
Crohn disease | Conflicting interpretations of pathogenicity
(Jul 18, 2019) | criteria provided, conflicting interpretations | VCV000319452 |
| - GRCh37:
- Chr16:50745656
- GRCh38:
- Chr16:50711745
| NOD2 | A612T, A585T | Blau syndrome, Inflammatory bowel disease 1, Psoriatic arthritis, susceptibility to,
Blau syndrome, Yao syndrome, Inflammatory bowel disease 1,
Blau syndrome, Inflammatory bowel disease 1 | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000004700 |