NPC1 NM_000271.5(NPC1):c.2131-5_2131-4del

CI-VAR-00094371Explore in graph →NM_000271.5:c.2131-5_2131-4delClinVar 522212 rs11299077

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
522212	Benign	criteria provided, multiple submitters, no conflicts	2	Niemann-Pick disease, type C1; Familial cancer of breast; Colorectal cancer; Nonpapillary renal cell carcinoma; Colon adenocarcinoma; Malignant tumor of esophagus	germline	9	Apr 21, 2020	clinvar