A: The variant NC_000019.10:g.38517523T>C in gene RYR1 is classified as 'Conflicting_classifications_of_pathogenicity' for Distal_arthrogryposis|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0005684,MONDO:MONDO:0019942,MedGen:C0265213,OMIM:PS108120,Orphanet:97120|MedGen:C3661900. Review status: criteria provided, conflicting classifications.