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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999635, LOC129999636
+944 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
LOC129999721, LOC129999722
+707 more
Copy number loss
See cases
GPathogenic
LOC129999681, LOC129999682
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+358 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+540 more
Copy number loss
See cases
GPathogenic
LOC129999684, LOC129999685
+538 more
Copy number loss
See cases
GLikely pathogenic
LOC129999655, LOC129999656
+533 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+473 more
Copy number loss
See cases
GPathogenic
UBE3C, VIPR2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+329 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+293 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+212 more
Copy number gain
See cases
GLikely pathogenic
ABCB8, ABCF2
+407 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+205 more
Copy number gain
See cases
GUncertain significance
ABCB8, ABCF2
+191 more
Copy number loss
See cases
GPathogenic
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