NM_032638.5(GATA2):c.879G>A (p.Arg293=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002820774.2
Allele description [Variation Report for NM_032638.5(GATA2):c.879G>A (p.Arg293=)]
NM_032638.5(GATA2):c.879G>A (p.Arg293=)
Condition(s)
- Name:
- Deafness-lymphedema-leukemia syndrome
- Synonyms:
- Lymphedema, primary, with myelodysplasia; Emberger syndrome
- Identifiers:
- MONDO: MONDO:0013540; MedGen: C3279664; Orphanet: 3226; OMIM: 614038
- Name:
- Monocytopenia with susceptibility to infections
- Synonyms:
- MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013607; MedGen: C3280030; Orphanet: 228423; OMIM: 614172
Assertion and evidence details
Last Updated: Feb 28, 2024