| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CZ1P-ASNS, ASNS (R550C +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | GPathogenic/Likely pathogenic |
| | ASNS, CZ1P-ASNS (A380S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | ASNS, CZ1P-ASNS (G366E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| | ASNS, CZ1P-ASNS (F362V +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | GPathogenic/Likely pathogenic |
| | ASNS, CZ1P-ASNS (R340H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | GConflicting classifications of pathogenicity |
| | ASNS, CZ1P-ASNS (V243A +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 (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
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