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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1, CIZ1
(G43S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 31
+1 more
GPathogenic/Likely pathogenic
DNM1, LOC113839516
(E95G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31
GUncertain significance
DNM1, LOC130002698
(P790fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 31
GLikely pathogenic
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