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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNE
(P577L +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNE
(R246Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, autophagic vacuolar, infantile-onset
+3 more
GPathogenic/Likely pathogenic
GNE
(Q250* +2 more)
Single nucleotide variant
(nonsense +1 more)
Sialuria
+2 more
GPathogenic/Likely pathogenic
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