A: The variant NC_000020.11:g.59024206T>C in gene TUBB1 is classified as 'Pathogenic/Likely_pathogenic' for Macrothrombocytopenia,_isolated,_1,_autosomal_dominant|not_provided|TUBB1-related_disorder. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957|MedGen:C3661900|.. Review status: criteria provided, multiple submitters, no conflicts.