A: The variant NC_000019.10:g.38458115G>C in gene RYR1 is classified as 'Likely_pathogenic' for Distal_arthrogryposis. 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. Review status: criteria provided, single submitter.