| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (nonsense +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (I18fs) | Deletion (frameshift variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (H180del) | Microsatellite (inframe_deletion +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | FKBP14, FKBP14-AS1 (L103F) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (G197R) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Duplication (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (L211S) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (S143*) | Single nucleotide variant (nonsense +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +2 more | |
| | FKBP14, FKBP14-AS1 (H179Q) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Microsatellite (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (D186Y) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (N176S) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (K102R) | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (V160I) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | FKBP14, FKBP14-AS1 (H69fs) | Duplication (frameshift variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (I129V) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | FKBP14, FKBP14-AS1 (D181E) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (E191D) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | FKBP14, FKBP14-AS1 (K157N) | Single nucleotide variant (non-coding transcript variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Duplication | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (R135Q) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Deletion (nonsense +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (I105T) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |
| | FKBP14, FKBP14-AS1 (L32fs) | Microsatellite (frameshift variant +1 more) | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | |