| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129935070, LOC129935071
+162 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +4 more | |
Click to view in NCBI Gene