| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly +6 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +6 more | |
| | | Deletion (frameshift variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 2C, Hunter-Thompson type +5 more | |
Click to view in NCBI Gene