Variant · Other
GATA2 NM_032638.5(GATA2):c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla)
CI-VAR-00197381Explore in graph →p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAlaNM_032638.5:c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGCClinVar 1184020 rs2107668794
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1184020 | Likely pathogenic | criteria provided, single submitter | 1 | Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML | germline | 1 | Jul 06, 2021 | clinvar |