| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ASNS, CZ1P-ASNS (S434F +2 more) | Single nucleotide variant (missense variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +2 more | GConflicting classifications of pathogenicity |
| | ASNS, CZ1P-ASNS (T288M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | |
| | ASNS, CZ1P-ASNS (N54I +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| | ASNS, CZ1P-ASNS (R49W +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | |
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