A: The variant NC_000021.9:g.46126035_46126037del in gene COL6A2 is classified as 'Likely_pathogenic' for Tip-toe_gait. Molecular consequence: SO:0001820: inframe_indel,SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144. Review status: no assertion criteria provided.