MCOLN1 NM_020533.3(MCOLN1):c.406-2A>G

CI-VAR-00005463Explore in graph →NM_020533.3:c.406-2A>GClinVar 5131 rs104886461

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
5131	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Mucolipidosis type IV; Mucolipidosis; Lisch epithelial corneal dystrophy; Clear cell carcinoma of kidney; Thyroid cancer, nonmedullary, 1; Ovarian serous cystadenocarcinoma; MCOLN1-related disorders	germline	18	Jul 01, 2026	clinvar