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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA2D2, LOC101928965
+1 more
(V1025L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
CACNA2D2, LOC101928965
+1 more
(P1006S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
LOC127898564, CACNA2D2
+1 more
(Q934R +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
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