| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762
+1 more | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | ANKRD11, TRAPPC2L (S1878P) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | KBG syndrome +3 more | |
Click to view in NCBI Gene