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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106780803, TNXB
(R4052P +2 more)
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
(R2811Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TNXB
(P2217T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GConflicting classifications of pathogenicity
TNXB
(S1830R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GConflicting classifications of pathogenicity
TNXB
(K1407R)
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
(G1163E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+4 more
GUncertain significance
TNXB
(D841N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
TNXB
(R821*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
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
(S595R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
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