A: The variant NC_000021.9:g.46131981G>A in gene COL6A2 is classified as 'Conflicting_classifications_of_pathogenicity' for Bethlem_myopathy_1A|Myopathy|Bethlem_myopathy_1B|not_provided|Ullrich_congenital_muscular_dystrophy_1A. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848|MONDO:MONDO:0958233,MedGen:C5935580,OMIM:620725|MedGen:C3661900|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840. Review status: criteria provided, conflicting classifications.