Variant · Snv
PHYH NM_006214.4(PHYH):c.135-2A>G
CI-VAR-00005711Explore in graph →NM_006214.4:c.135-2A>GClinVar 7581 rs201578674
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 |
|---|---|---|---|---|---|---|---|---|
| 7581 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | REFSUM DISEASE, ADULT, 1; Phytanic acid storage disease; Retinitis pigmentosa; PHYH-related disorder; Retinal dystrophy; Familial cancer of breast; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia | germline | 14 | Oct 21, 2025 | clinvar |