COL1A2 NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg)

CI-VAR-00165684Explore in graph →p.Lys198ArgNM_000089.4:c.593A>GClinVar 963234 rs772672797

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
963234	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Cardiovascular phenotype; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Adrenocortical carcinoma, hereditary; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	germline	4	Oct 20, 2025	clinvar