NM_001370466.1(NOD2):c.54G>A (p.Leu18=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003808569.1
Allele description [Variation Report for NM_001370466.1(NOD2):c.54G>A (p.Leu18=)]
NM_001370466.1(NOD2):c.54G>A (p.Leu18=)
Condition(s)
- Name:
- Blau syndrome (BLAUS)
- Synonyms:
- Synovitis granulomatous with uveitis and cranial neuropathies; Arthrocutaneouveal granulomatosis; Granulomatosis, familial, Blau type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008523; MedGen: C5201146; Orphanet: 90340; OMIM: 186580
- Name:
- Regional enteritis
- Synonyms:
- Enteritis, Granulomatous
- Identifiers:
- MeSH: D003424; MedGen: C0678202
Assertion and evidence details
Last Updated: Mar 5, 2024