| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (intron variant) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (intron variant) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | ABCA12, SNHG31 (E2050K +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | |
| | ABCA12, SNHG31 (P2104L +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (intron variant) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous 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 (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin | |
| | ABCA12, SNHG31 (G2155S +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | SNHG31, ABCA12 (Q1844K +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | ABCA12, SNHG31 (R2204Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin | |
| | ABCA12, SNHG31 (N2223S +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | ABCA12, SNHG31 (E1917A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | ABCA12, SNHG31 (I2307V +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | ABCA12, SNHG31 (D2232G +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | ABCA12, SNHG31 (T2544I +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | ABCA12, SNHG31 (V2070I +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant) | Ichthyosis, congenital, autosomal recessive 13 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ABCA12, SNHG31 (E1927fs +1 more) | Deletion (frameshift variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital ichthyosis of skin +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (intron variant) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |