NM_032638.5(GATA2):c.1017+557T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003061177.3
Allele description [Variation Report for NM_032638.5(GATA2):c.1017+557T>C]
NM_032638.5(GATA2):c.1017+557T>C
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
-
RecName: Full=Synaptotagmin-9; AltName: Full=Synaptotagmin 5; AltName: Full=Syna...
RecName: Full=Synaptotagmin-9; AltName: Full=Synaptotagmin 5; AltName: Full=Synaptotagmin IX; Short=SytIX; AltName: Full=Synaptotagmin Vgi|33112456|sp|Q925C0.1|SYT9_RATProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024