| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation 1 | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation 1 | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 | |
| | LOC129936379, NGLY1 (M1fs) | Deletion (frameshift variant +2 more) | Congenital disorder of deglycosylation 1 | |
| | | Copy number loss | Congenital disorder of deglycosylation 1 | |
| | | Deletion (frameshift variant +1 more) | Congenital disorder of deglycosylation 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of deglycosylation 1 | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of deglycosylation +2 more | |
| | | Duplication (frameshift variant) | Congenital disorder of deglycosylation 1 | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 | |
| | | Duplication (frameshift variant +2 more) | Congenital disorder of deglycosylation 1 +2 more | |
| | | Deletion (frameshift variant +1 more) | Congenital disorder of deglycosylation 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of deglycosylation 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | Congenital disorder of deglycosylation 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation +1 more | |
| | | Deletion (inframe_indel) | Congenital disorder of deglycosylation +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Congenital disorder of deglycosylation +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Congenital disorder of deglycosylation +2 more | |