HPS1 NM_000195.5(HPS1):c.118-54A>T

CI-VAR-00197246Explore in graph →NM_000195.5:c.118-54A>TClinVar 1180583 rs2296430

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.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
1180583	Benign	criteria provided, multiple submitters, no conflicts	2	Hermansky-Pudlak syndrome 1; Malignant lymphoma, large B-cell, diffuse	germline	4	Jul 10, 2021	clinvar