| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PUS3, HYLS1 (M153K +1 more) | Single nucleotide variant (missense variant +1 more) | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | |
| | HYLS1, PUS3 (Q350* +1 more) | Single nucleotide variant (nonsense +1 more) | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | |
| | | Deletion (frameshift variant +1 more) | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene