A: The variant NC_000019.10:g.54193561A>T in gene TSEN34 is classified as 'Uncertain_significance' for Pontoneocerebellar_hypoplasia. Molecular consequence: SO:0001624: 3_prime_UTR_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523. Review status: criteria provided, single submitter.