A: The variant NC_000020.11:g.59024131del in gene TUBB1 is classified as 'Likely_pathogenic' for Macrothrombocytopenia. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260. Review status: no assertion criteria provided.