| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | LOC129995124, NIPAL4 (P43L) | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC129995124, NIPAL4 (S29fs) | Indel (frameshift variant +1 more) | not specified | |
| | LOC129995124, NIPAL4 (D36G) | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 1 | |
| | LOC129995124, NIPAL4 (R39Q) | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Deletion (frameshift variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Deletion (frameshift variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Deletion (intron variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Deletion (frameshift variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 6 | |
| | | Single nucleotide variant | Autosomal recessive congenital ichthyosis 6 | |