Variant · Snv
SETX NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
CI-VAR-00047307Explore in graph →p.Lys992ArgNM_015046.7:c.2975A>GClinVar 260502 rs61742937
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 260502 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Spastic paraplegia; Hereditary spastic paraplegia; Familial pancreatic carcinoma; Colon adenocarcinoma; Lymphoma; Nonpapillary renal cell carcinoma; Thyroid cancer, nonmedullary, 1; Melanoma; Acute myeloid leukemia; Malignant tumor of esophagus; Malignant lymphoma, large B-cell, diffuse; Colorectal cancer; Cervical cancer | germline | 16 | Jun 01, 2026 | clinvar |