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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996786, LOC129996787
+1449 more
Copy number gain
See cases
GPathogenic
AFG1L, AK9
+472 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
LOC129389639, LOC129389640
+254 more
Copy number loss
See cases
GPathogenic
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
LOC129997072, LOC129997073
+147 more
Copy number gain
See cases
GPathogenic
CLVS2, FABP7
+75 more
Copy number loss
See cases
GUncertain significance
C6orf58, CENPW
+61 more
Copy number loss
See cases
GUncertain significance
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