Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal renal pelvis morphology +11 more | |
| | | Complex | Piebaldism +15 more | |
Click to view in NCBI Gene