GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000190520.1
Allele description [Variation Report for GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)]
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)
Condition(s)
- Name:
- Intellectual disability, mild
- Identifiers:
- MedGen: C0026106; Human Phenotype Ontology: HP:0001256
- Name:
- Multiple skeletal anomalies
- Identifiers:
- MedGen: C4025138; Human Phenotype Ontology: HP:0005775
- Name:
- Aplasia/Hypoplasia of the thumb
- Identifiers:
- MedGen: C3179508; Human Phenotype Ontology: HP:0009601
- Name:
- Ventricular septal defect
- Identifiers:
- MONDO: MONDO:0002070; MedGen: C0018818; OMIM: PS614429; Human Phenotype Ontology: HP:0001629
Assertion and evidence details
Last Updated: Feb 13, 2023