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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
ADGRV1, ARB2A
+436 more
Copy number loss
See cases
GPathogenic
CCNH, COX7C
+60 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARRDC3
+119 more
Copy number loss
5q14.3 microdeletion
GPathogenic
LOC129994182, LOC132089304
+52 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARRDC3
+117 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARRDC3
+116 more
Copy number loss
See cases
GPathogenic
ADGRV1, ARRDC3
+120 more
Copy number gain
See cases
GPathogenic
CCNH, CRE1
+53 more
Copy number loss
See cases
GPathogenic
LOC110120974, LOC110120977
+277 more
Copy number loss
See cases
GPathogenic
LINC02060, LOC102724637
+116 more
Copy number loss
Intellectual disability, autosomal dominant 20
GPathogenic
LOC110120688, LOC110120744
+99 more
Copy number gain
See cases
GPathogenic
LOC110120744, LOC110120771
+86 more
Copy number loss
See cases
GPathogenic
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