A: The variant NC_000019.10:g.54193607A>C in gene TSEN34 is classified as 'Benign' for Pontoneocerebellar_hypoplasia|not_provided. 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|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.