| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FKBP14, FKBP14-AS1 (S143*) | Single nucleotide variant (nonsense +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | GPathogenic/Likely pathogenic |
| | FKBP14, FKBP14-AS1 (E122fs) | Duplication (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | FKBP14, FKBP14-AS1 (E114K) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | |
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