| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Single nucleotide variant (missense variant) | NUS1-related disorder | |
| | | Single nucleotide variant (missense variant) | NUS1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NUS1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Congenital disorder of glycosylation, type IAA | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Insertion (splice donor variant) | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Duplication (frameshift variant) | NUS1-related disorder | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Duplication (frameshift variant) | Congenital disorder of glycosylation, type IAA | |
| | | Deletion (frameshift variant) | Congenital disorder of glycosylation, type IAA | |
| | | Deletion (frameshift variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (splice donor variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Deletion (frameshift variant +1 more) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Microsatellite (frameshift variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IAA | |
| | | Microsatellite (frameshift variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Deletion (frameshift variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Duplication (frameshift variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |
| | | Duplication (inframe_insertion) | Congenital disorder of glycosylation, type IAA | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation, type IAA | |