A: The variant NC_000021.9:g.46116045G>A in gene COL6A2 is classified as 'Likely_pathogenic' for Myopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: 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. Review status: criteria provided, single submitter.