| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | GM3 synthase deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | ST3GAL5-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | GM3 synthase deficiency +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene