A: The variant NC_000019.10:g.38460514_38460515dup in gene RYR1 is classified as 'Pathogenic/Likely_pathogenic' for Fetal_akinesia_deformation_sequence_1|Arthrogryposis_multiplex_congenita|Centronuclear_myopathy. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037|MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595. Review status: criteria provided, multiple submitters, no conflicts.