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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
COA4, DNAJB13
+11 more
Copy number gain
See cases
GUncertain significance
UCP2
Microsatellite
(intron variant)
not provided
GBenign
UCP2
(A55V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
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