A: The variant NC_000019.10:g.38477821C>T in gene RYR1 is classified as 'Conflicting_classifications_of_pathogenicity' for Congenital_myopathy|Neuromuscular_disease|not_specified|Fetal_akinesia_deformation_sequence_1|Arthrogryposis_multiplex_congenita|King_Denborough_syndrome|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia,_susceptibility_to,_1|not_provided|RYR1-related_disorder|Congenital_multicore_myopathy_with_external_ophthalmoplegia|See_cases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0019952,MedGen:C0270960,OMIM:PS117000,Orphanet:97245|MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381|MedGen:CN169374|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:0020485,MedGen:C1840365,OMIM:619542|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:C3661900|MedGen:CN239331|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|.. Review status: criteria provided, conflicting classifications.