"GeneDx"[submitter] AND "VWA1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 1264926	NM_022834.5(VWA1):c.73+132_73+143dup	VWA1	Duplication (intron variant)	not provided	GBenign
Select item 1695698	NM_022834.5(VWA1):c.212T>C (p.Leu71Pro)	VWA1 (L71P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 830325	NM_022834.5(VWA1):c.252del (p.Glu85fs)	VWA1 (E85fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1183255	NM_022834.5(VWA1):c.632-175C>T	VWA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229112	NM_022834.5(VWA1):c.976G>C (p.Ala326Pro)	VWA1 (A326P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1280635	NM_022834.5(VWA1):c.1005A>G (p.Pro335=)	VWA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1318173	NM_022834.5(VWA1):c.1014_1017dup (p.Ile340fs)	VWA1 (I340fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1278309	NM_022834.5(VWA1):c.*18G>C	VWA1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1282684	NM_022834.5(VWA1):c.*40T>C	VWA1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253365	GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4	SLC35E2B, CALML6 +23 more	Copy number gain	See cases	GLikely pathogenic