| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Indel (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Microsatellite (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Microsatellite (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Indel (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Microsatellite (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | LOC106780803, TNXB (Q18* +3 more) | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | LOC106780803, TNXB (V3664fs +3 more) | Deletion (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | LOC106780803, TNXB (R4076* +3 more) | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | LOC106780803, TNXB (C4060* +3 more) | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | LOC106780803, TNXB (D4328fs +3 more) | Microsatellite (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | LOC106780803, TNXB (R4185* +3 more) | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | GPathogenic/Likely pathogenic |
| | CYP21A2, TNXB (T4226M +3 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more | |
| | | Indel (splice acceptor variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Vesicoureteral reflux 8 | |
| | | Indel (frameshift variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (intron variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | LOC106780803, TNXB (G4163S +2 more) | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | LOC106780803, TNXB (R249C +2 more) | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | LOC106780803, TNXB (R237G +2 more) | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | LOC126859654, TNXB (R3429* +1 more) | Single nucleotide variant (nonsense) | Vesicoureteral reflux 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +2 more | |
| | | Deletion (frameshift variant) | Vesicoureteral reflux 8 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Vesicoureteral reflux 8 +2 more | GConflicting classifications of pathogenicity |
| | LOC106780803, TNXB (P3540fs +1 more) | Microsatellite (frameshift variant +1 more) | Ehlers-Danlos syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Vesicoureteral reflux 8 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Vesicoureteral reflux 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 +2 more | |
| | | Single nucleotide variant (intron variant) | Vesicoureteral reflux 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more | |
| | | Duplication (frameshift variant) | Vesicoureteral reflux 8 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Vesicoureteral reflux 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more | |
| | | Deletion (frameshift variant) | Vesicoureteral reflux 8 | |
| | | Deletion (splice acceptor variant) | Vesicoureteral reflux 8 | |