Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | IFT74-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | IFT74-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | IFT74-related condition +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 22 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | IFT74-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Bardet-Biedl syndrome 22 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | IFT74-related condition +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene