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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D24
(E153K)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+9 more
GConflicting classifications of pathogenicity
TBC1D24
(S178W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(S366Y +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 16
GUncertain significance
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