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Links from MedGen

Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNXB
(Q1303fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GPathogenic
LOC106780803, TNXB
(T3993A +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(L3074F +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
LOC106780803, TNXB
(D4124N +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(R2776W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GUncertain significance
LOC106780803, TNXB
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GLikely pathogenic
TNXB
(G1779E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
Deletion
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(T1994I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GUncertain significance
TNXB
(P1882L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
Gnot provided
TNXB
(R1255fs)
Duplication
(frameshift variant)
Vesicoureteral reflux 8
+1 more
GPathogenic/Likely pathogenic
TNXB
(S11C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GLikely pathogenic
TNXB
(E1371K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TNXB
(K1407R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
LOC106780803, TNXB
(R4052P +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(S595R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(L1390V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
Deletion
(inframe_deletion)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(D602E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(G3220R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
TNXB
(D841N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(G2165S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNXB
(R1628Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC106780803, TNXB
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
TNXB
Single nucleotide variant
(synonymous variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
TNXB
(R766W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+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)
Cardiovascular phenotype
+2 more
GUncertain significance
TNXB
Single nucleotide variant
(intron variant)
Vesicoureteral reflux 8
+1 more
GUncertain significance
TNXB
(K2446N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
Gnot provided
TNXB
(Y580C)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+2 more
GUncertain significance
LOC106780803, TNXB
(N4174fs +2 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(G2278V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNXB
(E2825K)
Single nucleotide variant
(missense variant +1 more)
Vesicoureteral reflux 8
+1 more
GLikely pathogenic
TNXB
(Q70R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GUncertain significance
TNXB
(T166P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNXB
(E2595K)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+3 more
GUncertain significance
TNXB
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
TNXB
(R2487C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TNXB
(V1272M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TNXB
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
TNXB
(G2797W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(T1495I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
TNXB
(R2584C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GConflicting classifications of pathogenicity
TNXB
(R862C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GUncertain significance
TNXB
(T2649M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GUncertain significance
TNXB
Microsatellite
(intron variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GBenign
CYP21A2, TNXB
Single nucleotide variant
(3 prime UTR variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GBenign
TNXB
(D1814E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GBenign/Likely benign
TNXB
Single nucleotide variant
(synonymous variant)
Vesicoureteral reflux 8
+5 more
GConflicting classifications of pathogenicity
TNXB
(G2071R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GUncertain significance
TNXB
(P1254R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GUncertain significance
TNXB
(R38Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GBenign/Likely benign
TNXB
(D1076N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GConflicting classifications of pathogenicity
TNXB
(P3151R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GUncertain significance
TNXB
(S928Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GUncertain significance
TNXB
Single nucleotide variant
(intron variant +1 more)
Vesicoureteral reflux 8
+4 more
GConflicting classifications of pathogenicity
TNXB
(V1831M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNXB
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LOC106780803, TNXB
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+2 more
GLikely benign
TNXB
(Q864*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
TNXB
(G2351R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GBenign/Likely benign
TNXB
(R1337H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GUncertain significance
TNXB
(G499D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GUncertain significance
TNXB
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
TNXB
(D3192N +1 more)
Single nucleotide variant
(missense variant)
TNXB-related condition
+4 more
GUncertain significance
TNXB
(R29Q)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+5 more
GBenign/Likely benign
TNXB
(T494S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNXB
(P2601L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GConflicting classifications of pathogenicity
TNXB
(Q2269*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LOC106780803, TNXB
(A4196T +2 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+2 more
GLikely benign
TNXB
(R695W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNXB
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TNXB
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TNXB
(Q2875H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC106780803, TNXB
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
TNXB
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
TNXB
Single nucleotide variant
(synonymous variant)
Vesicoureteral reflux 8
+5 more
GConflicting classifications of pathogenicity
TNXB
(V1012I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GConflicting classifications of pathogenicity
TNXB
(V916A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(H3022Q +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(R263H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TNXB
(H1957Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(V1621M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TNXB
(T1788fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GPathogenic
TNXB
(P188S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TNXB
(L96H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GUncertain significance
TNXB
(S2107C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(A2516T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC106780803, TNXB
(D172N +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TNXB
(S1830R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TNXB
(G1163E)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+4 more
GUncertain significance
TNXB
(R2811Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GConflicting classifications of pathogenicity
TNXB
(A3069V +1 more)
Single nucleotide variant
(missense variant)
Vesicoureteral reflux 8
+3 more
GUncertain significance
TNXB
(V2919M +1 more)
Single nucleotide variant
(missense variant)
TNXB-related condition
+4 more
GConflicting classifications of pathogenicity
TNXB
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+3 more
GLikely benign
TNXB
(P2217T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GConflicting classifications of pathogenicity
TNXB
(P1001L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GUncertain significance
LOC106780803, TNXB
(P26S +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(G2376C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
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