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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
CNOT3, LENG1
(R735Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CNOT3, LENG1
(Y744*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
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