"St. Jude Molecular Pathology, St. Jude Children's Research Hospital"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161402	NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	VHL (E52K)	Single nucleotide variant (missense variant)	VHL-related condition +5 more	GConflicting classifications of pathogenicity
Select item 2233	NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	VHL (P81S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 43604	NM_000551.4(VHL):c.485G>T (p.Cys162Phe)	LOC107303340, VHL (C162F +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +1 more	GPathogenic
Select item 2232	NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	LOC107303340, VHL (R200W +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +6 more	GConflicting classifications of pathogenicity
Select item 411984	NM_000551.4(VHL):c.605C>T (p.Thr202Ile)	LOC107303340, VHL (T202I +1 more)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +3 more	GUncertain significance
Select item 127828	NM_000551.4(VHL):c.629G>A (p.Arg210Gln)	LOC107303340, VHL (R210Q +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +5 more	GConflicting classifications of pathogenicity

ClinVar