A: The variant NC_000019.10:g.38496283C>T in gene RYR1 is classified as 'Pathogenic' for Malignant_hyperthermia,_susceptibility_to,_1|Ptosis|History_of_neonatal_hypotonia|Absence_of_the_sacrum|Central_core_myopathy|King_Denborough_syndrome|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Malignant_hyperthermia,_susceptibility_to|Malignant_hyperthermia_of_anesthesia|RYR1-related_disorder|Inborn_genetic_diseases|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|Human_Phenotype_Ontology:HP:0000508,MONDO:MONDO:0000728,MedGen:C0005745|MedGen:CN228299|Human_Phenotype_Ontology:HP:0010305,MedGen:C0344490|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MONDO:MONDO:0800188,MedGen:C5437603,OMIM:PS145600|Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423|MedGen:CN239331|MeSH:D030342,MedGen:C0950123|MedGen:C3661900. Review status: reviewed by expert panel.