| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 14 +11 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | COACH syndrome 1 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene