| | 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 (D546E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CZ1P-ASNS, ASNS (M538I +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | ASNS, CZ1P-ASNS (V489I +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | ASNS, CZ1P-ASNS (R382* +2 more) | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | ASNS, CZ1P-ASNS (T430M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Deletion (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | ASNS, CZ1P-ASNS (E352A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (S431P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (L430W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (R309K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | ASNS, CZ1P-ASNS (E304K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (V359M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (R270W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | CZ1P-ASNS, ASNS (M345L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (A220E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | ASNS, CZ1P-ASNS (A299P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (M207V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +2 more | |
| | ASNS, CZ1P-ASNS (I205V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | ASNS, CZ1P-ASNS (D167N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (K232E +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (P203A +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (Y195C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | ASNS, CZ1P-ASNS (C124F +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (M180V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (K155N +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ASNS, CZ1P-ASNS (F91V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | ASNS, CZ1P-ASNS (L146W +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (V144L +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (T139I +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (R54G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (A129P +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ASNS, CZ1P-ASNS (M63L +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | ASNS, CZ1P-ASNS (K45R +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |