A: The variant NC_000023.11:g.644485dup in gene SHOX is classified as 'Pathogenic' for Langer_mesomelic_dysplasia_syndrome|Leri-Weill_dyschondrosteosis. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0009588,MedGen:C0432230,OMIM:249700,Orphanet:2632|MONDO:MONDO:0007481,MedGen:C0265309,OMIM:127300,Orphanet:240. Review status: criteria provided, single submitter.