| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ASNS, CZ1P-ASNS (R163C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | ASNS, CZ1P-ASNS (R49Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental delay +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
Click to view in NCBI Gene