| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marinesco-Sjögren syndrome +1 more | |
| | | Duplication (frameshift variant) | Marinesco-Sjögren syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marinesco-Sjögren syndrome | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene