A: The variant NC_000021.9:g.37714701GGT[1] in gene KCNJ6 is classified as 'Pathogenic' for Keppen-Lubinsky_syndrome. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0013572,MedGen:C3279800,OMIM:614098,Orphanet:435628. Review status: no assertion criteria provided.