A: The variant NC_000021.9:g.46126535C>T in gene COL6A2 is classified as 'Pathogenic' for Myosclerosis|Bethlem_myopathy_1A|BETHLEM_MYOPATHY_1B,_AUTOSOMAL_RECESSIVE|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|.|MedGen:C3661900. Review status: criteria provided, single submitter.