A: The variant NC_000021.9:g.46125776G>A in gene COL6A2 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Bethlem_myopathy|Abnormality_of_the_musculature|Collagen_6-related_myopathy|Ullrich_congenital_muscular_dystrophy_1A|Qualitative_or_quantitative_defects_of_collagen_6|Congenital_hip_dislocation|Hip_flexor_weakness|Difficulty_walking|Falls|Muscle_weakness|Bethlem_myopathy_1A|Ullrich_congenital_muscular_dystrophy_1B. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0008029,MedGen:C1834674,OMIM:PS158810,Orphanet:610|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C5680804,Orphanet:207090|Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555|Human_Phenotype_Ontology:HP:0012515,MedGen:C3279725|Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394|Human_Phenotype_Ontology:HP:0002527,MedGen:C0085639|Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0958235,MedGen:C5935582,OMIM:620727. Review status: criteria provided, multiple submitters, no conflicts.