| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ASNS, CZ1P-ASNS (R382* +2 more) | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | ASNS, CZ1P-ASNS (F125S +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (Y19C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
Click to view in NCBI Gene