NM_020975.6(RET):c.2753T>C (p.Met918Thr) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 8, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415312.10
Allele description [Variation Report for NM_020975.6(RET):c.2753T>C (p.Met918Thr)]
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
Condition(s)
- Name:
- Hypertelorism
- Identifiers:
- MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
- Name:
- Tetralogy of Fallot (TOF)
- Synonyms:
- Fallot tetralogy
- Identifiers:
- MONDO: MONDO:0008542; MedGen: C0039685; Orphanet: 3303; OMIM: 187500; Human Phenotype Ontology: HP:0001636
- Name:
- Short stature
- Identifiers:
- MedGen: C0349588; Human Phenotype Ontology: HP:0004322
- Name:
- Hypothyroidism
- Identifiers:
- MONDO: MONDO:0005420; MedGen: C0020676; Human Phenotype Ontology: HP:0000821
- Name:
- Constipation
- Synonyms:
- Constipation disorder
- Identifiers:
- MONDO: MONDO:0002203; MedGen: C0009806; Human Phenotype Ontology: HP:0002019
- Name:
- Gingival overgrowth
- Synonyms:
- Gingival enlargement
- Identifiers:
- MONDO: MONDO:0002507; MedGen: C0376480; Human Phenotype Ontology: HP:0000212
- Name:
- Joint hypermobility
- Identifiers:
- MedGen: C1844820; Human Phenotype Ontology: HP:0001382
- Name:
- Thick vermilion border
- Identifiers:
- MedGen: C1836543; Human Phenotype Ontology: HP:0012471
Assertion and evidence details
Last Updated: Jun 9, 2024