A: The variant NC_000022.11:g.19723986C>A in gene GP1BB is classified as 'Pathogenic' for Thrombocytopenia. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: 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. Review status: criteria provided, single submitter.