| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GALNS, LOC130059762
+1 more (L36R) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | GPathogenic/Likely pathogenic |
| | ANKRD11, TRAPPC2L (R2608W) | Single nucleotide variant (missense variant) | KBG syndrome | GConflicting classifications of pathogenicity |
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