NM_001243133.2(NLRP3):c.2151-7T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002479939.1
Allele description [Variation Report for NM_001243133.2(NLRP3):c.2151-7T>C]
NM_001243133.2(NLRP3):c.2151-7T>C
Condition(s)
- Name:
- Chronic infantile neurological, cutaneous and articular syndrome (CINCA)
- Synonyms:
- CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME; Chronic Infantile Neurological Cutaneous Articular syndrome; Infantile Onset Multisystem Inflammatory Disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011776; MedGen: C0409818; Orphanet: 1451; OMIM: 607115
- Name:
- Keratitis fugax hereditaria
- Synonyms:
- KERATOENDOTHELIITIS FUGAX HEREDITARIA
- Identifiers:
- MONDO: MONDO:0007849; MedGen: C1835697; OMIM: 148200
- Name:
- Familial amyloid nephropathy with urticaria AND deafness (MWS)
- Synonyms:
- Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome; UDA syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008633; MedGen: C0268390; Orphanet: 575; OMIM: 191900
Assertion and evidence details
Last Updated: Sep 1, 2024