SH2D1A NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)

CI-VAR-00054887Explore in graph →p.Gly16=NM_002351.5:c.48C>TClinVar 367872 rs72610640

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
367872	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	X-linked lymphoproliferative disease due to SH2D1A deficiency; Holoprosencephaly 13, X-linked; Mullegama-Klein-Martinez syndrome; Uterine carcinosarcoma; Lung cancer	germline	12	Jan 24, 2026	clinvar