| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Spondylocarpotarsal synostosis syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type III +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spondylocarpotarsal synostosis syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | FLNB-Related Spectrum Disorders +5 more | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type III +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FLNB-Related Spectrum Disorders +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Boomerang dysplasia +8 more | |
| | | Single nucleotide variant (missense variant) | Boomerang dysplasia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | FLNB-Related Spectrum Disorders +7 more | |
| | | Single nucleotide variant (missense variant) | Boomerang dysplasia +8 more | |
| | | Single nucleotide variant (missense variant) | FLNB-Related Spectrum Disorders +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Larsen syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | Larsen syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | FLNB-Related Spectrum Disorders +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Deletion (inframe_deletion) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type I | |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type III +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |