Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +26 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene