C0019562[trait identifier] AND "ClinGen VHL Variant Curation Expert Pa - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	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 418538	NM_000551.4(VHL):c.89G>A (p.Gly30Glu)	VHL (G30E)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely benign FDA Recognized database
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 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 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 135951	NM_000551.4(VHL):c.183C>G (p.Pro61=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
Select item 2226	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	VHL (R64P)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GPathogenic FDA 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	GPathogenic FDA Recognized database
Select item 428806	NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	VHL (E70*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
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 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 137905	NM_000551.4(VHL):c.246C>T (p.Arg82=)	VHL	Single nucleotide variant (synonymous variant)	Von Hippel-Lindau syndrome	GBenign FDA Recognized database
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 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 223171	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	VHL (W88C)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GLikely pathogenic FDA Recognized database
Select item 411978	NM_000551.4(VHL):c.273C>A (p.Phe91Leu)	VHL (F91L)	Single nucleotide variant (missense variant)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 411994	NM_000551.4(VHL):c.341-25_370dup	LOC107303340, VHL	Duplication (intron variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 223194	NM_000551.4(VHL):c.341-2A>G	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 141044	NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	LOC107303340, VHL (D126N)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 43601	NM_000551.4(VHL):c.408del (p.Phe136fs)	LOC107303340, VHL (F136fs)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 411979	NM_000551.4(VHL):c.422dup (p.Asn141fs)	LOC107303340, VHL (N141fs)	Duplication (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 560745	NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	LOC107303340, VHL (P154R)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 526679	NM_000551.4(VHL):c.463+1G>A	LOC107303340, VHL	Single nucleotide variant (intron variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
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 182959	NM_000551.4(VHL):c.477del (p.Glu160fs)	LOC107303340, VHL (E119fs +1 more)	Deletion (frameshift variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
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 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 428794	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	LOC107303340, VHL (Q195* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 196284	NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	LOC107303340, VHL (K196* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 526673	NM_000551.4(VHL):c.610G>T (p.Glu204Ter)	LOC107303340, VHL (E204* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database
Select item 440404	NM_000551.4(VHL):c.634G>T (p.Gly212Ter)	LOC107303340, VHL (G212* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GUncertain significance FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31