"PreventionGenetics, part of Exact Sciences"[submitter] AND "ITGAV"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036090	NM_002210.5(ITGAV):c.802+8G>A	ITGAV	Single nucleotide variant (intron variant)	ITGAV-related disorder	GLikely benign
Select item 3047661	NM_002210.5(ITGAV):c.803-22TTTG[5]	ITGAV	Microsatellite (intron variant)	ITGAV-related disorder	GLikely benign
Select item 3038602	NM_002210.5(ITGAV):c.1053A>G (p.Arg351=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3036217	NM_002210.5(ITGAV):c.1242C>T (p.Asn414=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3061170	NM_002210.5(ITGAV):c.1302T>C (p.Phe434=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3039819	NM_002210.5(ITGAV):c.1642T>G (p.Ser548Ala)	ITGAV (S502A +2 more)	Single nucleotide variant (missense variant)	ITGAV-related disorder	GLikely benign
Select item 3036536	NM_002210.5(ITGAV):c.1655C>T (p.Ser552Phe)	ITGAV (S506F +2 more)	Single nucleotide variant (missense variant)	ITGAV-related disorder	GLikely benign
Select item 772853	NM_002210.5(ITGAV):c.1710G>A (p.Ala570=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder +1 more	GBenign/Likely benign
Select item 3059628	NM_002210.5(ITGAV):c.2247-10dup	ITGAV	Duplication (intron variant)	ITGAV-related disorder	GLikely benign
Select item 3053056	NM_002210.5(ITGAV):c.3090A>G (p.Glu1030=)	ITGAV	Single nucleotide variant (synonymous variant)	ITGAV-related disorder	GLikely benign
Select item 3037004	NM_002210.5(ITGAV):c.*2T>C	ITGAV	Single nucleotide variant (3 prime UTR variant)	ITGAV-related disorder	GLikely benign