NM_020975.6(RET):c.592C>T (p.Pro198Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002484925.1
Allele description [Variation Report for NM_020975.6(RET):c.592C>T (p.Pro198Ser)]
NM_020975.6(RET):c.592C>T (p.Pro198Ser)
Condition(s)
- Name:
- Hirschsprung disease, susceptibility to, 1
- Synonyms:
- Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
- Identifiers:
- MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623
- Name:
- Multiple endocrine neoplasia type 2B
- Synonyms:
- MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN IIB; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008082; MeSH: D018814; MedGen: C0025269; Orphanet: 653; OMIM: 162300
- Name:
- Pheochromocytoma
- Synonyms:
- Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
- Name:
- Familial medullary thyroid carcinoma (MTC)
- Synonyms:
- Thyroid cancer, familial medullary; MTC, familial
- Identifiers:
- MONDO: MONDO:0007958; MedGen: C1833921; Orphanet: 653; OMIM: 155240
- Name:
- Multiple endocrine neoplasia type 2A
- Synonyms:
- MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Sipple syndrome; MEN 2A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008234; MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400
Assertion and evidence details
Last Updated: Aug 11, 2024