MKS1 NM_017777.4(MKS1):c.417G>A (p.Glu139=)

CI-VAR-00005228Explore in graph →p.Glu139=NM_017777.4:c.417G>AClinVar 1392 rs386834048

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
1392	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Meckel syndrome, type 1; Joubert syndrome; Meckel-Gruber syndrome; Joubert syndrome 28; Bardet-Biedl syndrome 13; Inborn genetic diseases; MKS1-related disorder; Uterine corpus endometrial carcinoma; Uterine carcinosarcoma	germline	23	Jan 21, 2026	clinvar