| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ASNS, CZ1P-ASNS (R467H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +2 more | GPathogenic/Likely pathogenic |
| | ASNS, CZ1P-ASNS (R321H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | |
| | ASNS, CZ1P-ASNS (D117A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| | ASNS, CZ1P-ASNS (N54S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene