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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNE
(I582V +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNE
(D378Y +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+3 more
GConflicting classifications of pathogenicity