| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| | ASNS, CZ1P-ASNS (L190* +2 more) | Single nucleotide variant (nonsense +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| | ASNS, CZ1P-ASNS (R49Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental delay +2 more | GPathogenic/Likely pathogenic |
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