Variant · Snv
HPS4 NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
CI-VAR-00053660Explore in graph →p.Thr251SerNM_022081.6:c.751A>TClinVar 341016 rs34962745
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 |
|---|---|---|---|---|---|---|---|---|
| 341016 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Oculocutaneous albinism; Hermansky-Pudlak syndrome 4; Adrenocortical carcinoma, hereditary; Lung cancer; Cervical cancer; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Thymoma; Clear cell carcinoma of kidney; Malignant lymphoma, large B-cell, diffuse; Melanoma; Malignant tumor of esophagus; Uveal melanoma; Colorectal cancer; Thyroid cancer, nonmedullary, 1; Hepatocellular carcinoma | germline | 8 | Feb 04, 2026 | clinvar |