A: The variant NC_000019.10:g.38534775G>A in gene RYR1 is classified as 'Likely_pathogenic' for RYR1-related_disorder|Delayed_gross_motor_development|Proximal_muscle_weakness|Scoliosis|Pelvic_girdle_muscle_weakness|Progressive_distal_muscle_weakness|Inborn_genetic_diseases|not_provided|Malignant_hyperthermia,_susceptibility_to,_1|Malignant_hyperthermia_of_anesthesia|Neuromuscular_disease. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN239331|Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658|Human_Phenotype_Ontology:HP:0003432,Human_Phenotype_Ontology:HP:0003475,Human_Phenotype_Ontology:HP:0003701,Human_Phenotype_Ontology:HP:0007195,Human_Phenotype_Ontology:HP:0008950,Human_Phenotype_Ontology:HP:0008961,Human_Phenotype_Ontology:HP:0008975,Human_Phenotype_Ontology:HP:0009033,Human_Phenotype_Ontology:HP:0009075,MedGen:C0221629|Human_Phenotype_Ontology:HP:0002650,Human_Phenotype_Ontology:HP:0002770,Human_Phenotype_Ontology:HP:0003303,Human_Phenotype_Ontology:HP:0003317,Human_Phenotype_Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439|Human_Phenotype_Ontology:HP:0003692,Human_Phenotype_Ontology:HP:0003749,Human_Phenotype_Ontology:HP:0008999,Human_Phenotype_Ontology:HP:0009036,MedGen:C0427064|Human_Phenotype_Ontology:HP:0008933,Human_Phenotype_Ontology:HP:0009022,Human_Phenotype_Ontology:HP:0009057,Human_Phenotype_Ontology:HP:0009063,MedGen:C1836609|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423|MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381. Review status: reviewed by expert panel.