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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNXB
(E1371K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TNXB
(S11C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome due to tenascin-X deficiency
GLikely pathogenic