A: The variant NC_000021.9:g.45989617G>A in gene COL6A1 is classified as 'Pathogenic' for Bethlem_myopathy_1A|Inborn_genetic_diseases|Ullrich_congenital_muscular_dystrophy_1A|Abnormality_of_the_musculature|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.