A: The variant NC_000020.11:g.59023910C>A in gene TUBB1 is classified as 'Uncertain_significance' for Macrothrombocytopenia. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260. Review status: criteria provided, single submitter.