A: The variant NC_000022.11:g.29358929G>A in gene AP1B1 is classified as 'Pathogenic' for Autosomal_recessive_keratitis-ichthyosis-deafness_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477. Review status: no assertion criteria provided.