| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 9 | |
| | ADAMTS17, ALDH1A3 +23 more | Copy number gain | not specified | |
| | ADAMTS17, ALDH1A3 +16 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | CERS3-related disorder | |
| | | Single nucleotide variant (intron variant) | CERS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CERS3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive congenital ichthyosis 9 | |
| | ADAMTS17, ALDH1A3 +19 more | Deletion | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CERS3, CERS3-AS1 (H374Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 9 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Lamellar ichthyosis | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CERS3, CERS3-AS1 (D341E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CERS3, CERS3-AS1 (R370G +1 more) | Inversion (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not specified | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CERS3, CERS3-AS1 (D342G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS17, ALDH1A3 +19 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +21 more | Copy number loss | not specified | |
| | ADAMTS17, ALDH1A3 +21 more | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS17, ALDH1A3 +12 more | Duplication | not provided | |
| | | Duplication | not provided | |
| | CERS3, CERS3-AS1 (G368S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | CERS3, CERS3-AS1 (R370G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive congenital ichthyosis 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the skin | |
| | | Single nucleotide variant (nonsense) | Abnormality of the skin | |
| | ADAMTS17, ALDH1A3 +29 more | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS17, ALDH1A3 +12 more | Deletion | Chromosome 15q26-qter deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |