A: The variant NC_000022.11:g.19723967_19723988del in gene GP1BB is classified as 'Pathogenic' for Bernard_Soulier_syndrome. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274. Review status: criteria provided, single submitter.