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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V1A
(I94V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP6V1A
(A554T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy, infantile or early childhood, 3
GUncertain significance