"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100751	NM_000211.5(ITGB2):c.2247+57C>T	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 100749	NM_000211.5(ITGB2):c.1878-45dup	ITGB2	Duplication (intron variant)	not specified +2 more	GBenign
Select item 340155	NM_000211.5(ITGB2):c.1323T>C (p.Val441=)	ITGB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 100746	NM_000211.5(ITGB2):c.1101C>A (p.Val367=)	ITGB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 100765	NM_000211.5(ITGB2):c.994-47G>A	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1247653	NM_000211.5(ITGB2):c.993+42T>C	ITGB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 100761	NM_000211.5(ITGB2):c.819G>A (p.Gly273=)	ITGB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 100760	NM_000211.5(ITGB2):c.742-13G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +2 more	GBenign
Select item 100756	NM_000211.5(ITGB2):c.500-11G>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +2 more	GBenign
Select item 1291072	NM_000211.5(ITGB2):c.500-29C>T	ITGB2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 340174	NM_000211.5(ITGB2):c.328+15G>A	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2688237	NM_000211.5(ITGB2):c.148-825T>C	ITGB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688188	NM_000211.5(ITGB2):c.148-1016C>T	ITGB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 803634	NM_000211.5(ITGB2):c.148-1089A>G	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1 +2 more	GBenign
Select item 100758	NM_000211.5(ITGB2):c.58+12G>A	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 100753	NM_000211.5(ITGB2):c.24G>T (p.Leu8=)	ITGB2	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 1 +2 more	GBenign