Variant · Snv
CDHR1 NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
CI-VAR-00052666Explore in graph →p.Pro261=NM_033100.4:c.783G>AClinVar 301224 rs147346345
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 |
|---|---|---|---|---|---|---|---|---|
| 301224 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Cone-rod dystrophy 15; Retinal dystrophy; Retinitis pigmentosa; Macular dystrophy, retinal, 5; Retinitis pigmentosa 65; CDHR1-related disorder; Optic atrophy; Colon adenocarcinoma; Colorectal cancer; Gastric cancer; Papillary renal cell carcinoma type 1; Melanoma; Hepatocellular carcinoma; Retinal disorder; CDHR1-related disorders; Malignant tumor of urinary bladder; Familial cancer of breast | germline | 25 | May 15, 2026 | clinvar |