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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AASDH, ADGRL3
+244 more
Copy number gain
See cases
GPathogenic
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
AASDH, ADGRL3
+177 more
Copy number gain
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992618, LOC129992619
+143 more
Copy number gain
See cases
GPathogenic
AASDH, ARL9
+136 more
Copy number loss
See cases
GPathogenic
AASDH, ADGRL3
+100 more
Copy number loss
See cases
GPathogenic
AASDH, ARL9
+39 more
Copy number gain
See cases
GUncertain significance
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