Variant · Snv
OFD1 NM_003611.3(OFD1):c.2223A>G (p.Lys741=)
CI-VAR-00201548Explore in graph →p.Lys741=NM_003611.3:c.2223A>GClinVar 1304002 rs1355239331
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 |
|---|---|---|---|---|---|---|---|---|
| 1304002 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Orofaciodigital syndrome I; Joubert syndrome; Primary ciliary dyskinesia; OFD1-related disorder; Nonpapillary renal cell carcinoma | germline | 5 | Sep 10, 2025 | clinvar |