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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129936554, TRAK1
(R361Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129936554, TRAK1
(R288H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC129936554, TRAK1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 68
+1 more
GBenign
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