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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
LOC126861015, LOC129390222
+63 more
Copy number gain
See cases
GUncertain significance
ABCC2, COX15
+14 more
Copy number gain
See cases
GUncertain significance
COX15, CUTC
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
COX15, CUTC
Single nucleotide variant
(intron variant)
Leigh syndrome
+1 more
GBenign
COX15, CUTC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COX15, CUTC
Duplication
(intron variant)
not provided
GLikely benign
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