A: The variant NC_000022.11:g.19723980G>A in gene GP1BB is classified as 'Likely_pathogenic' for Increased_mean_platelet_volume|Bernard-Soulier_syndrome,_type_B|Thrombocytopenia|Bernard_Soulier_syndrome|Macrothrombocytopenia. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0011877,MedGen:C1096367|MedGen:C1856447|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274|Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260. Review status: criteria provided, multiple submitters, no conflicts.