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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
LOC121175342, LOC121740678
+380 more
Copy number loss
See cases
GPathogenic
AEBP1, AMPH
+288 more
Copy number loss
See cases
GPathogenic
LOC129998373, LOC129998374
+231 more
Copy number loss
See cases
GPathogenic
SNORA5A, SNORA5B
+212 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+317 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+426 more
Copy number loss
See cases
GPathogenic
ADCY1, CAMK2B
+95 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+200 more
Copy number loss
See cases
GPathogenic
ADCY1, CCDC201
+27 more
Indel
Cerebral cavernous malformation 2
GPathogenic
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