Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 9 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive congenital ichthyosis 9 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 9 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive congenital ichthyosis 9 +1 more | |
| | CERS3, CERS3-AS1 (R370G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Autosomal recessive congenital ichthyosis 9 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive congenital ichthyosis 9 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 9 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive congenital ichthyosis 9 | |
Click to view in NCBI Gene