Variant · Snv
GBA1 NM_000157.4(GBA1):c.115+1G>A
CI-VAR-00018127Explore in graph →NM_000157.4:c.115+1G>AClinVar 93445 rs104886460
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 |
|---|---|---|---|---|---|---|---|---|
| 93445 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Gaucher disease; Gaucher disease type II; Gaucher disease type I; Gaucher disease type III; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset; Young-onset Parkinson disease; Melanoma; Clear cell carcinoma of kidney; Sarcoma; GBA-related disorder; GBA1-related disorder | germline | 23 | Feb 01, 2026 | clinvar |