| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Developmental regression +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Galactosylceramide beta-galactosidase deficiency +19 more | |
| | | Deletion (frameshift variant) | Rett syndrome | |
Click to view in NCBI Gene