KMT2D NM_003482.4(KMT2D):c.6283C>T (p.Arg2095Cys)

CI-VAR-00338603Explore in graph →p.Arg2095CysNM_003482.4:c.6283C>TClinVar 3031360 rs376062022

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
3031360	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	KMT2D-related disorder; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; Kabuki syndrome 1; Primary central nervous system lymphoma; Kabuki syndrome	germline/somatic	4	Jan 27, 2026	clinvar