| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | 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) | not provided | |
| | | Single nucleotide variant (nonsense) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (nonsense) | PAPSS2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Microsatellite (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Microsatellite (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Microsatellite (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Microsatellite (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more | |
| | | Microsatellite (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | PAPSS2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (frameshift variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Insertion (intron variant) | not provided | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | not provided | |
| | | Insertion (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Insertion (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Deletion (intron variant) | not provided | |
| | | 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) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Deletion (inframe_deletion) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Duplication (frameshift variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (intron variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | 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) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |
| | | Deletion (frameshift variant) | Spondyloepimetaphyseal dysplasia, PAPSS2 type | |