ClinVar for PubMed (Select 20846682) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 928822	NM_000551.4(VHL):c.483del (p.Cys162fs)	LOC107303340, VHL (C121fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 625242	NM_000551.4(VHL):c.386T>C (p.Leu129Pro)	LOC107303340, VHL (L129P)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 496065	NM_000551.4(VHL):c.407T>G (p.Phe136Cys)	LOC107303340, VHL (F136C)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GConflicting classifications of pathogenicity
Select item 496060	NM_000551.4(VHL):c.382C>T (p.Leu128Phe)	LOC107303340, VHL (L128F)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GUncertain significance
Select item 428807	NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	LOC107303340, VHL (L118P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2216	NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	LOC107303340, VHL (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database

ClinVar