COL4A1 NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)

CI-VAR-00067491Explore in graph →p.Gly308ArgNM_001845.6:c.922G>AClinVar 423149 rs370677625

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
423149	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Inborn genetic diseases; COL4A1-related disorder; Retinal arterial tortuosity; Brain small vessel disease 1 with or without ocular anomalies; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant; Hemorrhage, intracerebral, susceptibility to; Melanoma	germline	8	May 21, 2025	clinvar