A: The variant NC_000022.11:g.18121534G>A in gene TUBA8 is classified as 'Pathogenic' for Macrothrombocytopenia,_isolated,_2,_autosomal_dominant. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030827,MedGen:C5676968,OMIM:619840. Review status: no assertion criteria provided.