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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP21A2, LOC106780800
+1 more
(Q319* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TNXB
(E2825K)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome due to tenascin-X deficiency
+1 more
GLikely pathogenic
TNXB
(Y580C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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