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Items: 8

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
ACHE, ACTL6B
+310 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
AP1S1, CLDN15
+23 more
Copy number gain
See cases
GBenign
AP1S1, MIR4653
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
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