COL1A1 NM_000088.4(COL1A1):c.627C>T (p.Gly209=)

CI-VAR-00053755Explore in graph →p.Gly209=NM_000088.4:c.627C>TClinVar 324117 rs201136122

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
324117	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Ehlers-Danlos syndrome, arthrochalasia type; Infantile cortical hyperostosis; Osteogenesis imperfecta; Osteogenesis imperfecta type I; Cardiovascular phenotype; Ehlers-Danlos syndrome; Clear cell carcinoma of kidney; Thyroid cancer, nonmedullary, 1; Colon adenocarcinoma; Familial cancer of breast	germline	9	Jan 12, 2026	clinvar