Related gene-specific medical variations for Gene (Select 23078) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189365	NM_015058.2(VWA8):c.31C>T (p.Pro11Ser)	LOC130009639, VWA8 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189359	NM_015058.2(VWA8):c.25G>C (p.Gly9Arg)	LOC130009639, VWA8 (G9R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2580280	NM_015058.2(VWA8):c.3070G>A (p.Gly1024Arg)	VWA8	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2464737	NM_015058.2(VWA8):c.95G>T (p.Arg32Leu)	LOC130009639, VWA8 (R32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395668	NM_015058.2(VWA8):c.43G>A (p.Gly15Ser)	LOC130009639, VWA8 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261648	NM_015058.2(VWA8):c.125A>G (p.Glu42Gly)	LOC130009639, VWA8 (E42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209871	NM_015058.2(VWA8):c.22C>T (p.Leu8Phe)	LOC130009639, VWA8 (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527769	GRCh37/hg19 13q14.11(chr13:42406426-42577775)	VWA8	Copy number loss	not specified	GUncertain significance
Select item 979368	GRCh37/hg19 13q14.11(chr13:42103787-42534815)x3	VWA8	Copy number gain	not provided	GLikely benign
Select item 789634	NM_015058.2(VWA8):c.163+8G>A	LOC130009639, VWA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685228	GRCh37/hg19 13q14.11(chr13:42284274-42302851)x1	VWA8	Copy number loss	not provided	GUncertain significance