VHL P25L (c.74C>T) AND D126Rfs*6 (c.375_376insA) AND E55Rfs(c.163delG) — variant · CancerIndex

Variant · Indel

VHL P25L (c.74C>T) AND D126Rfs*6 (c.375_376insA) AND E55Rfs(c.163delG)

CI-VAR-00003322Explore in graph →CIViC 4165

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 P25L (c.74C>T) AND D126Rfs*6 (c.375_376insA) AND E55Rfs(c.163delG)	(predisposing)	Predisposing	C	Supports Predisposition	1	submitted	EID10639 The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadi… (full text at CIViC) PMID 24335534 · Muscarella et al., 2014 · Open in CIViC	civic
VHL P25L (c.74C>T) AND D126Rfs*6 (c.375_376insA) AND E55Rfs(c.163delG)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID10659 The patient cohort consisted of 57 patients (26 male and 31 female) from Southern Italy, most of whom (55 of 57) presented with solitary HGB of the CNS: 6 were syndromic and 51 were apparently sporadi… (full text at CIViC) PMID 24335534 · Muscarella et al., 2014 ·

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.