| | | Single nucleotide variant (missense variant) | Nager syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nager syndrome | |
| | | Single nucleotide variant (missense variant) | Nager syndrome | |
| | | Single nucleotide variant (missense variant) | Nager syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Nager syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Nager syndrome | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Duplication | Nager syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Microsatellite (frameshift variant) | Nager syndrome | |
| | | Single nucleotide variant (nonsense) | Nager syndrome | |
| | | Deletion (frameshift variant) | Nager syndrome +4 more | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Single nucleotide variant (nonsense) | Nager syndrome | |
| | | Single nucleotide variant (nonsense) | Nager syndrome | |
| | | Duplication (frameshift variant) | Nager syndrome | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Duplication (frameshift variant) | Nager syndrome | |
| | | Duplication (frameshift variant) | Nager syndrome | |
| | | Insertion (frameshift variant) | Nager syndrome | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Duplication (frameshift variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Nager syndrome | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Deletion (frameshift variant) | Nager syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Nager syndrome | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |