Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sialidosis | |
| | | Single nucleotide variant (missense variant) | Sialidosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Sialidosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Sialidosis +1 more | |
| | | Single nucleotide variant (nonsense) | Sialidosis type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Sialidosis +1 more | |
| | | Single nucleotide variant (missense variant) | Sialidosis type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Sialidosis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sialidosis +2 more | |
| | | Single nucleotide variant (missense variant) | Sialidosis +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene