A: The variant NC_000019.10:g.45779496TGC[81] in gene DMPK is classified as 'Likely_pathogenic' for Bethlem_myopathy_1A. Molecular consequence: SO:0001623: 5_prime_UTR_variant,SO:0001821: inframe_insertion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, single submitter.