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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUF1
(K645R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 40
+1 more
GUncertain significance
GUF1
(V328I +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity