| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DPH2, LOC126805726 (R125C +4 more) | Single nucleotide variant (missense variant +1 more) | Ventricular septal defect +3 more | GConflicting classifications of pathogenicity |
| | DPH2, LOC126805726 (Q115* +5 more) | Single nucleotide variant (nonsense +1 more) | Ventricular septal defect +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinal dystrophy +22 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Roifman syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Epidermal nevus +31 more | |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | SBDS-related disorder +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metachondromatosis +10 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type 11 +6 more | |
Click to view in NCBI Gene