| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Anencephaly +4 more | |
| | HYLS1, PUS3 (R280* +1 more) | Single nucleotide variant (nonsense +1 more) | PUS3-related disorder +5 more | |
| | HYLS1, PUS3 (R435* +1 more) | Single nucleotide variant (nonsense +1 more) | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | |
Click to view in NCBI Gene