Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 16 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Short-rib thoracic dysplasia 16 with or without polydactyly +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 16 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 16 with or without polydactyly | |
| | | Indel (inframe_indel) | Short-rib thoracic dysplasia 16 with or without polydactyly | |
| | | Deletion (frameshift variant) | Short-rib thoracic dysplasia 16 with or without polydactyly +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 16 with or without polydactyly +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Short-rib thoracic dysplasia 16 with or without polydactyly | |
Click to view in NCBI Gene