| | | Duplication (3 prime UTR variant) | Congenital ichthyosiform erythroderma | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Lamellar ichthyosis +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital ichthyosiform erythroderma | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Congenital ichthyosiform erythroderma | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Congenital ichthyosiform erythroderma | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Deletion (inframe_deletion) | Congenital ichthyosiform erythroderma +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive congenital ichthyosis 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital ichthyosiform erythroderma | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 2 | |
| | TMEM88, TRG-GCC2-6 +31 more | Duplication | not provided | |