"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445547	NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys)	ITGB2 (E630K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 340154	NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe)	ITGB2 (L442F +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 9471	NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)	ITGB2 (G273R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 530692	NM_000211.5(ITGB2):c.810G>A (p.Ala270=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GBenign
Select item 626120	NM_000211.5(ITGB2):c.311C>T (p.Thr104Met)	ITGB2 (T104M +1 more)	Single nucleotide variant (missense variant)	ITGB2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 461470	NM_000211.5(ITGB2):c.147+9C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GBenign/Likely benign

ClinVar