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Links from MedGen

Items: 1 to 100 of 194

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNXB
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(P165L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GUncertain significance
TNXB
(Q194*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(C204*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(W215fs)
Indel
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(R236fs)
Microsatellite
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(R236fs)
Microsatellite
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(Q664*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(E682*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(W769*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(A850fs)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(P1256fs +1 more)
Indel
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(Q1102fs +1 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(W1528* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(S1718fs +1 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GPathogenic
TNXB
(T1816fs +1 more)
Microsatellite
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(R1944fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(E1983fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(E2347* +1 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(S2361C +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GUncertain significance
TNXB
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(D2502fs +1 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(I2627fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(D2642fs +1 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(D2856fs +2 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(K2987* +2 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(G3000fs +2 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(R3262fs +2 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(F3474fs +2 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
LOC106780803, TNXB
(Q18* +3 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
LOC106780803, TNXB
(V3664fs +3 more)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
LOC106780803, TNXB
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
LOC106780803, TNXB
(R4076* +3 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
LOC106780803, TNXB
(C4060* +3 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
LOC106780803, TNXB
(D4328fs +3 more)
Microsatellite
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
LOC106780803, TNXB
(R4185* +3 more)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GPathogenic
TNXB
(C616R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GUncertain significance
TNXB
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GConflicting classifications of pathogenicity
TNXB
(Q1303* +1 more)
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
GUncertain significance
TNXB
(M2260T +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GUncertain significance
TNXB
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GLikely pathogenic
TNXB
Indel
(splice acceptor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(S1358N +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GUncertain significance
TNXB
Single nucleotide variant
(intron variant)
Vesicoureteral reflux 8
GUncertain significance
TNXB
(G67fs)
Indel
(frameshift variant)
Vesicoureteral reflux 8
GLikely pathogenic
TNXB
(R2776W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TNXB
(T1994I)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
TNXB
(T3468M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNXB
Single nucleotide variant
(synonymous variant)
Vesicoureteral reflux 8
GUncertain significance
TNXB
(G586S)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
TNXB
Single nucleotide variant
(intron variant)
Vesicoureteral reflux 8
GUncertain significance
TNXB
(N2365H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
TNXB
(E1601A)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
LOC106780803, TNXB
(G4163S +2 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+1 more
GUncertain significance
TNXB
(R588W)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
LOC106780803, TNXB
(R249C +2 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
TNXB
(V2274L)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
LOC106780803, TNXB
(R237G +2 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
TNXB
(T1996A)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
LOC126859654, TNXB
(R3429* +1 more)
Single nucleotide variant
(nonsense)
Vesicoureteral reflux 8
+1 more
GLikely pathogenic
TNXB
(P1882L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TNXB
(G2991R +1 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
TNXB
(F2869fs +1 more)
Deletion
(frameshift variant)
Vesicoureteral reflux 8
+2 more
GPathogenic/Likely pathogenic
TNXB
(R1255fs)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GPathogenic/Likely pathogenic
TNXB
(P888A)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
TNXB
(S2751L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GUncertain significance
TNXB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
TNXB
(G1751D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GUncertain significance
TNXB
(A1571T)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+1 more
GUncertain significance
TNXB
(R1476C)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+1 more
GUncertain significance
TNXB
(G1101R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TNXB
(E1086K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TNXB
(R797W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GUncertain significance
TNXB
(T1315fs)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome
+3 more
GPathogenic/Likely pathogenic
TNXB
(S1276P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GUncertain significance
TNXB
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
GLikely pathogenic
TNXB
(P2090L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TNXB
(N3333fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GConflicting classifications of pathogenicity
TNXB
(V2349L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC106780803, TNXB
Single nucleotide variant
(intron variant)
Vesicoureteral reflux 8
+2 more
GLikely benign
TNXB
Single nucleotide variant
(synonymous variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
TNXB
(R766W)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
TNXB
(V2607I)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+1 more
GUncertain significance
TNXB
(F1908Y)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
TNXB
Single nucleotide variant
(intron variant)
Vesicoureteral reflux 8
+1 more
GUncertain significance
TNXB
(Y580C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TNXB
(A3312V +1 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
GUncertain significance
TNXB
(G2278V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GUncertain significance
TNXB
(E2100fs)
Duplication
(frameshift variant)
Vesicoureteral reflux 8
+3 more
GPathogenic/Likely pathogenic
TNXB
(V1961fs)
Deletion
(frameshift variant)
Vesicoureteral reflux 8
GLikely pathogenic
TNXB
(E2825K)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(E552fs)
Deletion
(frameshift variant)
Vesicoureteral reflux 8
GLikely pathogenic
TNXB
Deletion
(splice acceptor variant)
Vesicoureteral reflux 8
GLikely pathogenic
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