| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ASNS, CZ1P-ASNS (R324* +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 (R319C +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 | |
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