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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998788, LOC129998789
+227 more
Copy number loss
See cases
GPathogenic
ABCB1, ABCB4
+78 more
Copy number loss
See cases
GLikely pathogenic
CDK14, CFAP69
+30 more
Copy number gain
See cases
GUncertain significance
CDK14, CFAP69
+28 more
Copy number gain
See cases
GUncertain significance
GTPBP10, LOC101927446
+11 more
Copy number gain
Diaphragmatic hernia
GUncertain significance
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