NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001236938.8
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)]
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)
Condition(s)
- Name:
- Achondrogenesis, type IB (ACG1B)
- Synonyms:
- Achondrogenesis Fraccaro type
- Identifiers:
- MONDO: MONDO:0010966; MedGen: C0265274; Orphanet: 932; Orphanet: 93298; OMIM: 600972
- Name:
- Atelosteogenesis type II (AO2)
- Synonyms:
- NEONATAL OSSEOUS DYSPLASIA I; Neonatal osseous dysplasia 1; Atelosteogenesis type 2
- Identifiers:
- MONDO: MONDO:0009727; MedGen: C1850554; Orphanet: 56304; OMIM: 256050
- Name:
- Multiple epiphyseal dysplasia type 4 (EDM4)
- Synonyms:
- Multiple epiphyseal dysplasia, autosomal recessive; Multiple epiphyseal dysplasia with clubfoot; Multiple epiphyseal dysplasia with double-layered patella; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009189; MedGen: C1847593; Orphanet: 93307; OMIM: 226900
Assertion and evidence details
Last Updated: Sep 29, 2024