NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn) AND Spondyloepimetaphyseal dysplasia with multiple dislocations
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003133581.3
Allele description [Variation Report for NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)]
NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)
Condition(s)
- Name:
- Spondyloepimetaphyseal dysplasia with multiple dislocations
- Synonyms:
- Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011335; MedGen: C1863732; Orphanet: 93360; OMIM: 603546
Assertion and evidence details
Last Updated: Mar 16, 2024