Variant · Snv
TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
CI-VAR-00005384Explore in graph →p.Arg402GlnNM_000372.5:c.1205G>AClinVar 3779 rs1126809
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 |
|---|---|---|---|---|---|---|---|---|
| 3779 | Conflicting classifications of pathogenicity; other | criteria provided, conflicting classifications | 1 | Oculocutaneous albinism type 1B; Temperature-sensitive oculocutaneous albinism type 1; Melanoma, cutaneous malignant, susceptibility to, 8; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN; Skin/hair/eye pigmentation 3, blue/green eyes; Oculocutaneous albinism type 1A; Autosomal recessive ocular albinism; Malignant tumor of breast; Oculocutaneous albinism type 1; Albinism or congenital nystagmus; Pigmentary skin disorders; TYR-related disorder | germline | 24 | Jun 01, 2026 | clinvar |