A: The variant NC_000021.9:g.34834593G>A in gene RUNX1 is classified as 'Pathogenic' for Storage_pool_disease_of_platelets|Hereditary_thrombocytopenia_and_hematologic_cancer_predisposition_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0008495,MedGen:C0032197,OMIM:185050,Orphanet:734|MONDO:MONDO:0011071,MedGen:CN281654,Orphanet:71290. Review status: reviewed by expert panel.