A: The variant NC_000021.9:g.45990827G>A in gene COL6A1 is classified as 'Pathogenic/Likely_pathogenic' for Abnormality_of_the_musculature|not_provided|Sensorimotor_neuropathy|Bethlem_myopathy_1A. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|MedGen:C3661900|Human_Phenotype_Ontology:HP:0007055,Human_Phenotype_Ontology:HP:0007141,Human_Phenotype_Ontology:HP:0007237,MedGen:C1112256|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, multiple submitters, no conflicts.