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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADD1, ADRA2C
+426 more
Copy number loss
See cases
GPathogenic
NELFA, NICOL1
+504 more
Copy number loss
See cases
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
AFAP1, AFAP1-AS1
+633 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+504 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+674 more
Copy number gain
See cases
GPathogenic
ABLIM2, ADD1
+461 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+597 more
Copy number loss
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC129992002, LOC129992003
+597 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+479 more
Copy number loss
See cases
GPathogenic
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+569 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+536 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+657 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+623 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
NSD2, NSG1
+438 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+618 more
Copy number gain
See cases
GPathogenic
LOC129992049, LOC129992050
+537 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 more
Copy number gain
See cases
GPathogenic
LOC129992176, LOC129992177
+439 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+659 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+414 more
Copy number loss
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+500 more
Copy number loss
See cases
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADRA2C, BLOC1S4
+181 more
Deletion
not provided
GLikely pathogenic
ABLIM2, ACOX3
+365 more
Copy number loss
See cases
GPathogenic
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