A: The variant NC_000021.9:g.46120518G>A in gene COL6A2 is classified as 'Conflicting_classifications_of_pathogenicity' for Myosclerosis|Bethlem_myopathy_1A|Inborn_genetic_diseases|Collagen_6-related_myopathy|Ullrich_congenital_muscular_dystrophy_1A|not_provided|not_specified. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C3661900|MedGen:CN169374. Review status: criteria provided, conflicting classifications.