DIAPH1 NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)

CI-VAR-00051329Explore in graph →p.Glu475LysNM_005219.5:c.1423G>AClinVar 351296 rs193036129

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
351296	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome; Familial pancreatic carcinoma; Colorectal cancer	germline	9	Feb 02, 2026	clinvar