A: The variant NC_000022.11:g.29367242A>G in gene AP1B1 is classified as 'Likely_pathogenic' for Autosomal_recessive_keratitis-ichthyosis-deafness_syndrome. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009440,MedGen:C1275089,OMIM:242150,Orphanet:477. Review status: criteria provided, single submitter.