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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A10
(G426W)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
+2 more
GPathogenic/Likely pathogenic
SLC2A10
(R444*)
Single nucleotide variant
(nonsense)
Arterial tortuosity syndrome
+2 more
GPathogenic/Likely pathogenic