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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
ANKRD42, ANKRD42-DT
+117 more
Copy number gain
See cases
GPathogenic
DLG2, LOC130006541
+1 more
Copy number gain
See cases
GUncertain significance
DLG2, LOC130006543
Copy number loss
See cases
GLikely benign
LOC101929174, LOC102723838
+378 more
Copy number loss
See cases
GPathogenic
DLG2, LOC130006547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
DLG2, LOC130006547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
DLG2, LOC130006547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
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