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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129994523, LOC129994524
+683 more
Copy number loss
See cases
GPathogenic
LOC126807500, LOC126807501
+689 more
Copy number loss
See cases
GPathogenic
DMXL1, DMXL1-DT
+496 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994389, LOC129994390
+340 more
Copy number loss
See cases
GPathogenic
LOC129389350, LOC129389351
+377 more
Copy number loss
See cases
GPathogenic
ALDH7A1, AP3S1
+317 more
Copy number loss
See cases
GPathogenic
AP3S1, ARL14EPL
+88 more
Duplication
Autism
GLikely pathogenic
AP3S1, ARL14EPL
+228 more
Copy number loss
See cases
GPathogenic
LOC129994580, LOC129994581
+336 more
Copy number loss
See cases
GPathogenic
LINC00992, LINC02147
+12 more
Copy number gain
See cases
GUncertain significance
LINC02147, LINC02148
+7 more
Copy number loss
See cases
GUncertain significance
LINC02147, LINC02148
+7 more
Copy number loss
See cases
GUncertain significance
DTWD2, LINC02147
+9 more
Copy number loss
See cases
GUncertain significance
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