"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 403601	NM_005428.4(VAV1):c.322-8C>T	VAV1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 618481	NM_005428.4(VAV1):c.472G>A (p.Asp158Asn)	VAV1 (D158N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440402	NM_005428.4(VAV1):c.738T>C (p.Val246=)	VAV1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 440400	NM_005428.4(VAV1):c.835G>A (p.Val279Ile)	VAV1 (V247I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 711997	NM_005428.4(VAV1):c.1047G>A (p.Glu349=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 440399	NM_005428.4(VAV1):c.1524G>A (p.Pro508=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 440403	NM_005428.4(VAV1):c.1536C>T (p.Thr512=)	VAV1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 994280	NM_005428.4(VAV1):c.1777+19C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774237	NM_005428.4(VAV1):c.1980T>C (p.His660=)	VAV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 440401	NM_005428.4(VAV1):c.2161A>T (p.Met721Leu)	VAV1 (M689L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810928	NM_005428.4(VAV1):c.2216C>T (p.Thr739Met)	VAV1 (T707M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 618482	NM_005428.4(VAV1):c.2532C>T (p.Tyr844=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign