| | ASNS, CZ1P-ASNS (S480F +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ASNS, CZ1P-ASNS (R382* +2 more) | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | |
| | ASNS, CZ1P-ASNS (Y377C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | GPathogenic/Likely pathogenic |
| | CZ1P-ASNS, ASNS (F362V +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 (K271fs +2 more) | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ASNS, CZ1P-ASNS (R340H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ASNS, CZ1P-ASNS (E139fs +2 more) | Deletion (frameshift variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (N54S +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | 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 (P55L +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more | |