| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Insertion (frameshift variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (nonsense) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Deletion (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Deletion | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate B +4 more | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Deletion (inframe_deletion) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (nonsense) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Indel (frameshift variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Deletion (frameshift variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Deletion (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (stop lost) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Inversion (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Deletion (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (intron variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Duplication (nonsense) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | See cases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Spondyloenchondrodysplasia with immune dysregulation | |