A: The variant NC_000021.9:g.46114074G>A in gene COL6A2 is classified as 'Pathogenic' for not_provided|Bethlem_myopathy_1A|Abnormality_of_the_musculature. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745. Review status: criteria provided, multiple submitters, no conflicts.