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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
B3GNT2, BCL11A
+161 more
Copy number loss
See cases
GPathogenic
LOC110120782, LOC110120811
+123 more
Copy number loss
See cases
GPathogenic
B3GNT2, BCL11A
+177 more
Copy number loss
See cases
GPathogenic
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
B3GNT2, BCL11A
+187 more
Copy number loss
See cases
GPathogenic
BCL11A, C2orf74
+85 more
Copy number loss
See cases
GPathogenic
B3GNT2, BCL11A
+118 more
Copy number loss
See cases
GPathogenic
BCL11A, C2orf74
+96 more
Copy number gain
See cases
GUncertain significance
BCL11A, C2orf74
+72 more
Copy number gain
See cases
GLikely pathogenic
BCL11A, C2orf74
+73 more
Copy number gain
See cases
GUncertain significance
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