PKHD1 NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)

CI-VAR-00031893Explore in graph →p.Glu218LysNM_138694.4:c.652G>AClinVar 199185 rs149522482

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
199185	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Autosomal recessive polycystic kidney disease; Polycystic kidney disease 4; Autosomal dominant polycystic liver disease; PKHD1-related disorder; Nonpapillary renal cell carcinoma	germline	9	Jan 31, 2026	clinvar