A: The variant NC_000021.9:g.46116778del in gene COL6A2 is classified as 'Likely_pathogenic' for Proximal_muscle_weakness. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629. Review status: no assertion criteria provided.