A: The variant NC_000021.9:g.46125880G>T in gene COL6A2 is classified as 'Likely_pathogenic' for Bethlem_myopathy_1B|Ullrich_congenital_muscular_dystrophy_1B|Myosclerosis. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725|MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380. Review status: criteria provided, single submitter.