A: The variant NC_000019.10:g.54193291_54193294dup in gene TSEN34 is classified as 'Likely_pathogenic' for Pontocerebellar_hypoplasia_type_2C. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0012891,MedGen:C2676465,OMIM:612390,Orphanet:2524. Review status: criteria provided, single submitter.