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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACHE, ACTL6B
+300 more
Copy number gain
See cases
GPathogenic
ACHE, ACTL6B
+228 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
EPO
Deletion
(intron variant)
not provided
GBenign
EPO
Deletion
(intron variant)
not provided
GBenign
EPO
Single nucleotide variant
(intron variant)
not provided
GBenign
EPO
Single nucleotide variant
(intron variant)
not provided
GBenign
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