VHL D121N (c.361G>A)

CI-VAR-00000409Explore in graph →CIViC 3133

Curated evidence

Evidence by cancer (2 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.

civicCuratedShowing 1–2 of 2 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease2unmapped disease
VHL D121N (c.361G>A)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8586 Peripheral blood samples were taken from VHL disease patients and patients with familial or isolated pheochromocytoma/paragangliomas from Seoul National University Hospital, Ajou University Medical Ce… (full text at CIViC) PMID 16142346 · Kang et al., 2005 · Open in CIViC	civic
VHL D121N (c.361G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10201 Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Repub… (full text at CIViC) PMID 25078357 · Hwang et al., 2014 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.