"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93330	NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	VHL (P25L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 43596	NM_000551.4(VHL):c.150C>G (p.Ala50=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 43597	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	VHL (S65W)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenicFDA Recognized database
Select item 223190	NM_000551.4(VHL):c.340+1G>A	VHL	Single nucleotide variant (splice donor variant)	Chuvash polycythemia +2 more	GPathogenic
Select item 36901	NM_000551.4(VHL):c.340+5G>C	VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome +4 more	GBenign/Likely benign
Select item 428807	NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	LOC107303340, VHL (L118P)	Single nucleotide variant (missense variant +1 more)	Chuvash polycythemia +2 more	GPathogenic
Select item 223199	NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	LOC107303340, VHL (R120G)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GLikely pathogenic
Select item 428796	NM_000551.4(VHL):c.463+3A>G	LOC107303340, VHL	Single nucleotide variant (intron variant)	Chuvash polycythemia +4 more	GConflicting classifications of pathogenicity
Select item 127830	NM_000551.4(VHL):c.463+8C>T	LOC107303340, VHL	Single nucleotide variant (intron variant)	Von Hippel-Lindau syndrome	GBenignFDA Recognized database
Select item 43605	NM_000551.4(VHL):c.497T>C (p.Val166Ala)	LOC107303340, VHL (V166A +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +1 more	GPathogenic/Likely pathogenic
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	GPathogenicFDA Recognized database
Select item 625256	NM_000551.4(VHL):c.509T>A (p.Val170Asp)	LOC107303340, VHL (V170D +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic