Variant · Snv
ALG6 NM_013339.4(ALG6):c.257+5G>A
CI-VAR-00018231Explore in graph →NM_013339.4:c.257+5G>AClinVar 95529 rs199682486
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 |
|---|---|---|---|---|---|---|---|---|
| 95529 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | ALG6-congenital disorder of glycosylation 1C; Inborn genetic diseases; Clear cell carcinoma of kidney; Colorectal cancer; Acute myeloid leukemia; Familial cancer of breast; ALG6-related disorder; Fetal anomalies with a likely genetic cause | germline | 27 | May 23, 2026 | clinvar |