A: The variant NC_000022.11:g.50581779del in gene CHKB is classified as 'Likely_pathogenic' for Muscular_dystrophy. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: 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. Review status: criteria provided, single submitter.