"Clinical Genomics Labs, University Health Network"[submitter] AND "VH - ClinVar

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Items: 27

	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	GBenign FDA Recognized database
Select item 43596	NM_000551.4(VHL):c.150C>G (p.Ala50=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
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 1723891	NM_000551.4(VHL):c.222_225dup (p.Phe76fs)	VHL (F76fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GLikely pathogenic
Select item 625226	NM_000551.4(VHL):c.232A>G (p.Asn78Asp)	VHL (N78D)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +2 more	GPathogenic/Likely pathogenic
Select item 93326	NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	VHL (N78S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 186220	NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	VHL (S80G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 625229	NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	VHL (S80I)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 2233	NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	VHL (P81S)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 36899	NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	VHL (P81L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1297059	NM_000551.4(VHL):c.244C>G (p.Arg82Gly)	VHL (R82G)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 182977	NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	VHL (P86L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 456577	NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	VHL (W88R)	Single nucleotide variant (missense variant)	Chuvash polycythemia +3 more	GPathogenic
Select item 182978	NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	VHL (W88*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 2237	NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	VHL (G93S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2223	NM_000551.4(VHL):c.292T>C (p.Tyr98His)	VHL (Y98H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 223176	NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	VHL (Y98C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +1 more	GPathogenic
Select item 223179	NM_000551.4(VHL):c.300dup (p.Leu101fs)	VHL (L101fs)	Duplication (frameshift variant)	Von Hippel-Lindau syndrome	GPathogenic
Select item 223183	NM_000551.4(VHL):c.311G>T (p.Gly104Val)	VHL (G104V)	Single nucleotide variant (missense variant)	not provided +1 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	GBenign FDA Recognized database
Select item 2217	NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	LOC107303340, VHL (R161* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome +3 more	GPathogenic
Select item 182983	NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	LOC107303340, VHL (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 223229	NM_000551.4(VHL):c.496_506del (p.Val166fs)	LOC107303340, VHL (V166fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GLikely 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	GPathogenic FDA Recognized database
Select item 419447	NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	LOC107303340, VHL (L184P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 223235	NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	LOC107303340, VHL (L198P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
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

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Items: 27