| | | Copy number gain | See cases | |
| | LOC613266, MACROD2 +950 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of glycosylation | |
| | | Insertion (nonsense +1 more) | Congenital disorder of glycosylation | |
| | | Insertion (frameshift variant +1 more) | Congenital disorder of glycosylation | |
| | | Insertion (frameshift variant +1 more) | Congenital disorder of glycosylation | |
| | | Insertion (frameshift variant +1 more) | Congenital disorder of glycosylation | |
| | | Insertion (frameshift variant +1 more) | Congenital disorder of glycosylation | |
| | | Insertion (nonsense +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Deletion (frameshift variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |