A: The variant NC_000020.11:g.59024233G>A in gene TUBB1 is classified as 'Pathogenic' for Macrothrombocytopenia,_isolated,_1,_autosomal_dominant. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957. Review status: criteria provided, single submitter.