A: The variant NC_000021.9:g.44900319C>A in gene ITGB2 is classified as 'Pathogenic' for Leukocyte_adhesion_deficiency_1. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007293,MedGen:C0398738,OMIM:116920,Orphanet:2968,Orphanet:99842. Review status: no assertion criteria provided.