A: The variant NC_000019.10:g.47694310_47694311delinsA in gene BICRA is classified as 'Pathogenic' for Coffin-Siris_syndrome_12. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0025699,MedGen:C5444111,OMIM:619325. Review status: criteria provided, single submitter.