"Revvity Omics, Revvity"[submitter] AND "VHL"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265138	NM_001018115.3(FANCD2):c.2605+1G>A	FANCD2, LOC107303338 +1 more	Single nucleotide variant (splice donor variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 548790	NM_000551.4(VHL):c.1A>G (p.Met1Val)	VHL (M1V)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135953	NM_000551.4(VHL):c.25G>A (p.Asp9Asn)	VHL (D9N)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GConflicting classifications of pathogenicity
Select item 411965	NM_000551.4(VHL):c.46G>C (p.Glu16Gln)	VHL (E16Q)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GUncertain significance
Select item 135405	NM_000551.4(VHL):c.119C>T (p.Pro40Leu)	VHL (P40L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 161402	NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	VHL (E52K)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 161403	NM_000551.4(VHL):c.556G>A (p.Glu186Lys)	LOC107303340, VHL (E186K +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +3 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 182990	NM_000551.4(VHL):c.631A>C (p.Met211Leu)	LOC107303340, VHL (M211L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity