| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | Orofacial-digital syndrome IV +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
Click to view in NCBI Gene