| | | Single nucleotide variant (non-coding transcript variant +1 more) | Osteodysplastic primordial dwarfism, type 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Roifman syndrome +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (intron variant +1 more) | CLASP1-related condition +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Osteodysplastic primordial dwarfism, type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Osteodysplastic primordial dwarfism, type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Lowry-Wood syndrome +1 more | GConflicting classifications of pathogenicity |
| | | | Osteodysplastic primordial dwarfism, type 1 | |
| | | Single nucleotide variant | Osteodysplastic primordial dwarfism, type 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Roifman syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Roifman syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Roifman syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Lowry-Wood syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Roifman syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Lowry-Wood syndrome +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Osteodysplastic primordial dwarfism, type 1 +4 more | GPathogenic/Likely pathogenic |