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Items: 7

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
ACHE, ACTL6B
+300 more
Copy number gain
See cases
GPathogenic
ACTL6B, AGFG2
+230 more
Copy number loss
Multiple congenital anomalies/dysmorphic syndrome
GPathogenic
ACHE, ACTL6B
+310 more
Copy number loss
See cases
GPathogenic
AP4M1, ARPC1A
+125 more
Copy number gain
See cases
GLikely benign
ACHE, ACTL6B
+228 more
Copy number loss
See cases
GPathogenic
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