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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(D147H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
(F251L)
Single nucleotide variant
(missense variant)
Familial infantile myoclonic epilepsy
GPathogenic
TBC1D24
(A509V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+5 more
GConflicting classifications of pathogenicity
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