| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Short long bone +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pendred syndrome +5 more | GPathogenic/Likely pathogenic |
| | BSCL2, HNRNPUL2-BSCL2 (N88S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | POLG-Related Spectrum Disorders +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormality of the skin +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Juvenile myelomonocytic leukemia +9 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |