C0019562[trait identifier] AND "Center for Human Genetics, Inc, Center - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547829	NM_000551.4(VHL):c.193T>C (p.Ser65Pro)	VHL (S65P)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 43598	NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	VHL (E70K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 223170	NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	VHL (P86R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 223228	NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	LOC107303340, VHL (Q164* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 545823	NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)	LOC107303340, VHL (R136fs +1 more)	Indel (frameshift variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic/Likely pathogenic
Select item 547831	NM_000551.4(VHL):c.585_586del (p.Lys196fs)	LOC107303340, VHL (K196fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic

ClinVar