| | ABCA12, SNHG31 (Q1976L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive congenital ichthyosis 4A | |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | ABCA12, SNHG31 (G1837C +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | | Deletion (splice acceptor variant) | Autosomal recessive congenital ichthyosis 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | ABCA12, SNHG31 (Y1784F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 4B +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 4B +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 4A +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 4B +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 4A +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 4A +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 4A +2 more | |
| | | Deletion (non-coding transcript variant +1 more) | Abnormality of the skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | ABCA12, SNHG31 (Y2254C +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | ABCA12, SNHG31 (L2558P +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive congenital ichthyosis 4A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +4 more | |
| | ABCA12, SNHG31 (R1886* +1 more) | Single nucleotide variant (nonsense +1 more) | Autosomal recessive congenital ichthyosis 4B +3 more | |
| | ABCA12, SNHG31 (D2047N +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |
| | | Single nucleotide variant (missense variant +1 more) | ABCA12-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive congenital ichthyosis 4A | |