| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +2 more | |
| | | Single nucleotide variant (missense variant) | Al-Gazali syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Duplication | Combined immunodeficiency due to OX40 deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +5 more | |
| | | Duplication (frameshift variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | B3GALT6-related condition +3 more | |