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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(F251fs)
Deletion
(frameshift variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 16
GUncertain significance