"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC107303340"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246383	NM_000551.4(VHL):c.347T>G (p.Leu116Arg)	LOC107303340, VHL (L116R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GUncertain significance
Select item 2683684	NM_000551.4(VHL):c.351G>A (p.Trp117Ter)	LOC107303340, VHL (W117*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 2218	NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	LOC107303340, VHL (R167W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 625264	NM_000551.4(VHL):c.558_560del (p.Glu186del)	LOC107303340, VHL (E186del +1 more)	Deletion (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 2225	NM_000551.4(VHL):c.562C>G (p.Leu188Val)	LOC107303340, VHL (L188V +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 411984	NM_000551.4(VHL):c.605C>T (p.Thr202Ile)	LOC107303340, VHL (T202I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance

ClinVar