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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060335, LOC130060336
+242 more
Copy number gain
See cases
GPathogenic
ADORA2B, ALKBH5
+199 more
Copy number loss
See cases
GPathogenic
ALKBH5, ATPAF2
+190 more
Copy number loss
See cases
GPathogenic
ALKBH5, ATPAF2
+138 more
Copy number loss
See cases
GPathogenic
LOC113939958, LOC130060357
+3 more
Copy number gain
See cases
GLikely benign
MPRIP
Copy number gain
See cases
GLikely benign
COPS3, FLCN
+15 more
Copy number gain
See cases
GUncertain significance
MPRIP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AKAP10, ALDH3A1
+48 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+59 more
Copy number gain
See cases
GPathogenic
EPN2, EVPLL
+45 more
Copy number loss
See cases
GPathogenic
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