A: The variant NC_000023.11:g.634690AG[3] in gene SHOX is classified as 'Pathogenic' for not_provided|Langer_mesomelic_dysplasia_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MedGen:C3661900|MONDO:MONDO:0009588,MedGen:C0432230,OMIM:249700,Orphanet:2632. Review status: criteria provided, single submitter.