A: The variant NC_000021.9:g.46125294dup in gene COL6A2 is classified as 'Likely_pathogenic' for Abnormality_of_the_musculature. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745. Review status: criteria provided, single submitter.