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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR5004, SYNGAP1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
MIR5004, SYNGAP1
+1 more
(L465fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic