A: The variant NC_000019.10:g.38499718G>A in gene RYR1 is classified as 'Pathogenic' for Short_stature|Proximal_amyotrophy|Delayed_gross_motor_development|Congenital_contracture|not_provided|RYR1-related_disorder|Congenital_myopathy_with_fiber_type_disproportion. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588|Human_Phenotype_Ontology:HP:0006792,Human_Phenotype_Ontology:HP:0006966,Human_Phenotype_Ontology:HP:0007126,Human_Phenotype_Ontology:HP:0008943,Human_Phenotype_Ontology:HP:0008980,Human_Phenotype_Ontology:HP:0009041,MedGen:C1850794|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:0002803,MONDO:MONDO:0022823,MedGen:C0332878|MedGen:C3661900|MedGen:CN239331|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020. Review status: criteria provided, multiple submitters, no conflicts.