A: The variant NC_000021.9:g.46114006A>G in gene COL6A2 is classified as 'Pathogenic/Likely_pathogenic' for Fatigue|Muscular_dystrophy|Limb-girdle_muscle_weakness|Hyperextensible_hand_joints|not_provided|Ullrich_congenital_muscular_dystrophy_1A|Bethlem_myopathy_1A. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0012378,MedGen:C0015672|Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473|Human_Phenotype_Ontology:HP:0003325,Human_Phenotype_Ontology:HP:0008971,MedGen:C1858127|Human_Phenotype_Ontology:HP:0005639,MedGen:C1856877|MedGen:C3661900|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610. Review status: criteria provided, multiple submitters, no conflicts.