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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129930966, LOC129930967
+548 more
Copy number gain
See cases
GPathogenic
DPYD, DPYD-AS1
+28 more
Copy number loss
See cases
GUncertain significance
AGL, AKNAD1
+194 more
Copy number loss
See cases
GPathogenic
AGL, AHCYL1
+332 more
Copy number loss
See cases
GPathogenic
DPYD, LINC01776
+6 more
Copy number loss
See cases
GUncertain significance
DPYD, MIR137
Copy number loss
not specified
GUncertain significance
DPYD, MIR137
+1 more
Copy number loss
not provided
GUncertain significance
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
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