| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FKBP14, FKBP14-AS1 (K190del) | Deletion (inframe_deletion +1 more) | Ehlers-Danlos syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense +1 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | FKBP14, FKBP14-AS1 (I126V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | FKBP14, FKBP14-AS1 (E122fs) | Duplication (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | FKBP14, FKBP14-AS1 (I119M) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
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