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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A10
(L20fs)
Duplication
(frameshift variant)
Arterial tortuosity syndrome
GLikely pathogenic
SLC2A10
(G23V)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GLikely pathogenic