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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
CYFIP2, LOC126807569
+1 more
(D1128N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126807569, NIPAL4-DT
+1 more
(F1147S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYFIP2, LOC126807569
+1 more
(D1151N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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