| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAM117B, FAM237A +509 more | Copy number loss | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCA12, LOC129388992 +2 more | Copy number gain | See cases | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital ichthyosiform erythroderma | |
| | | 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 (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 (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 | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital ichthyosiform erythroderma | |
| | | Duplication (3 prime UTR variant +1 more) | Congenital ichthyosiform erythroderma | |
| | | 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 (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 (3 prime UTR variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ABCA12, SNHG31 (E2594fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | SNHG31, ABCA12 (E2276K +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ABCA12, SNHG31 (I2266L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ABCA12, SNHG31 (I2266V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SNHG31, ABCA12 (G2263V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ABCA12, SNHG31 (Y2254C +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4A +1 more | |
| | | Duplication (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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ABCA12, SNHG31 (L2558P +1 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 4B | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SNHG31, ABCA12 (T2544I +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ABCA12, SNHG31 (A2533E +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ABCA12, SNHG31 (A2533T +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) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ABCA12, SNHG31 (T2499N +1 more) | Single nucleotide variant (missense variant +1 more) | Congenital ichthyosis of skin | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | ABCA12, SNHG31 (V2170I +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ABCA12, SNHG31 (R2482* +1 more) | Single nucleotide variant (nonsense +1 more) | Lamellar ichthyosis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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) | Congenital ichthyosis of skin +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | SNHG31, ABCA12 (I2152T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |