RECQL4 NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)

CI-VAR-00005546Explore in graph →p.His831fsNM_004260.4:c.2492_2493delClinVar 6064 rs752729755

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
6064	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Rothmund-Thomson syndrome type 2; Baller-Gerold syndrome; Rapadilino syndrome; Hereditary cancer-predisposing syndrome; Inborn genetic diseases; RECQL4-related disorder	germline	10	Sep 16, 2025	clinvar