| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | not provided | |
| | | Deletion (frameshift variant) | Sjögren-Larsson syndrome | |
| | | Single nucleotide variant (splice donor variant) | Sjögren-Larsson syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Sjögren-Larsson syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Sjögren-Larsson syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Sjögren-Larsson syndrome | |
| | | Deletion (frameshift variant) | Sjögren-Larsson syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Sjögren-Larsson syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sjögren-Larsson syndrome | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Deletion (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
Click to view in NCBI Gene