A: The variant NC_000022.11:g.19723572G>C in gene GP1BB is classified as 'Likely_pathogenic' for Macrothrombocytopenia. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260. Review status: no assertion criteria provided.