| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCA12, SNHG31 (L2558P +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B | |
| | ABCA12, SNHG31 (R2426Q +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +1 more | |
| | ABCA12, SNHG31 (R2426W +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +1 more | |
| | ABCA12, SNHG31 (P2416L +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +1 more | |
Click to view in NCBI Gene