A: The variant NC_000022.11:g.18126846G>A in gene TUBA8 is classified as 'Uncertain_significance' for TUBA8-related_disorder|not_provided|Macrothrombocytopenia,_isolated,_2,_autosomal_dominant. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:C3661900|MONDO:MONDO:0030827,MedGen:C5676968,OMIM:619840. Review status: criteria provided, single submitter.