| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FKBP14, FKBP14-AS1 (E191del) | Microsatellite (inframe_deletion +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | |
| | FKBP14, FKBP14-AS1 (E122fs) | Duplication (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (splice donor variant) | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | |
| | | Deletion (frameshift variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | |
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