In ABCA12, the heterozygous likely pathogenic splicing variant (c.318-2A > G) and a VUS missense (p.Asn678Ser) SNV might be involved in Ichthyosis, congenital, autosomal recessive 4B (harlequin) (OMIM #242500) in patient 12. This evidence concerns the gene ABCA12 and ichthyosis.