| | | 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 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided +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) | not provided +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) | RNU4ATAC-related spliceosomopathies +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) | Intellectual disability +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 (non-coding transcript variant +1 more) | not provided +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) | Osteodysplastic primordial dwarfism, type 1 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Osteodysplastic primordial dwarfism, type 1 +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |