| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ichthyosis Congenital (CERS3) | congenital ichthyosis with black scaling on the skin | Autosomal Recessive | 15q26.3 | splice site variant | CERS3 | c.466-1G>A | skipping of exon 8 and/or degradation of the CERS3 mature mRNA | Jan et al., 2023/2023 |
