| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ASNS, CZ1P-ASNS (Y377C +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 (E304G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| | | Single nucleotide variant (splice donor variant) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
Click to view in NCBI Gene