Variant · Snv
COX20 NM_198076.6(COX20):c.157+3G>C
CI-VAR-00056001Explore in graph →NM_198076.6:c.157+3G>CClinVar 380082 rs367956888
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
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 380082 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Mitochondrial complex IV deficiency, nuclear type 1; Mitochondrial complex IV deficiency, nuclear type 11; Clear cell carcinoma of kidney; Colon adenocarcinoma; Melanoma; Acute myeloid leukemia; Malignant tumor of urinary bladder; Adrenocortical carcinoma, hereditary; Lung cancer; Uterine corpus endometrial carcinoma; Familial pancreatic carcinoma; Lymphoma; COX20-related disorders | germline | 19 | Apr 15, 2026 | clinvar |