| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCA12, SNHG31 (R1886* +1 more) | Single nucleotide variant (nonsense +1 more) | Autosomal recessive congenital ichthyosis 4B +3 more | |
| | ABCA12, SNHG31 (Q1976L +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene