A: The variant NC_000022.11:g.29331896del in gene AP1B1 is classified as 'Pathogenic' for Autosomal_recessive_keratitis-ichthyosis-deafness_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477. Review status: no assertion criteria provided.