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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106780803, TNXB
(D172N +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TNXB
(P2619L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GConflicting classifications of pathogenicity
TNXB
(A2516T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TNXB
(S2107C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GUncertain significance
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