A: The variant NC_000019.10:g.38451827G>A in gene RYR1 is classified as 'Likely_pathogenic' for Congenital_muscular_dystrophy|Respiratory_insufficiency|Myopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242|Human_Phenotype_Ontology:HP:0002093,Human_Phenotype_Ontology:HP:0004893,Human_Phenotype_Ontology:HP:0005937,Human_Phenotype_Ontology:HP:0006542,MedGen:C0035229|Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848. Review status: criteria provided, single submitter.