| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Indel (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Deletion (frameshift variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Duplication | Congenital disorder of glycosylation type Ir +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Microsatellite (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (splice donor variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Microsatellite (inframe_deletion) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Microsatellite (inframe_deletion) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Microsatellite (inframe_deletion) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation type Ir | |