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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
IDH2, IDH2-DT
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
IDH2, IDH2-DT
(Y39H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
IDH2, IDH2-DT
(E33G)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
IDH2, IDH2-DT
(P23S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
IDH2-DT, IDH2
(A2G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
IDH2, IDH2-DT
Single nucleotide variant
not provided
GBenign
IDH2, IDH2-DT
Deletion
not provided
GBenign
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