Variant · Snv
PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=)
CI-VAR-00049687Explore in graph →p.Ser213=NM_000325.6:c.639A>TClinVar 283383 rs141176394
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 |
|---|---|---|---|---|---|---|---|---|
| 283383 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Irido-corneo-trabecular dysgenesis; PITX2-Related Eye Abnormalities; Ring dermoid of cornea; Hypoplasia of the iris; Axenfeld-Rieger syndrome type 1; Cataract; Anterior segment dysgenesis 4; PITX2-related disorder; Uterine carcinosarcoma | germline | 6 | Jul 30, 2025 | clinvar |