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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1, LOC113839516
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
DNM1, LOC113839516
(L132R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31A
GUncertain significance
DNM1, LOC113839516
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 31A
GLikely pathogenic
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