A: The variant NC_000021.9:g.45989093G>A in gene COL6A1 is classified as 'Conflicting_classifications_of_pathogenicity' for Limb-girdle_muscle_weakness|EMG_abnormality|Motor_delay|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127|Human_Phenotype_Ontology:HP:0002177,Human_Phenotype_Ontology:HP:0003457,Human_Phenotype_Ontology:HP:0003751,Human_Phenotype_Ontology:HP:0003753,Human_Phenotype_Ontology:HP:0100286,MedGen:C0476403|Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301|MedGen:C3661900. Review status: criteria provided, conflicting classifications.