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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC132089736, LOC132089737
+313 more
Copy number gain
See cases
GPathogenic
ANP32B, AOPEP
+197 more
Copy number loss
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
ANP32B
Single nucleotide variant
(intron variant)
not provided
GBenign
ANGPTL2, ANKRD18A
+771 more
Copy number gain
See cases
GPathogenic
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