A: The variant NC_000021.9:g.46117875del in gene COL6A2 is classified as 'Pathogenic' for Bethlem_myopathy|Abnormality_of_the_musculature|Bethlem_myopathy_1A|Myosclerosis|Bethlem_myopathy_1B|Ullrich_congenital_muscular_dystrophy_1B. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0008029,MedGen:C1834674,OMIM:PS158810,Orphanet:610|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725|MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727. Review status: criteria provided, single submitter.