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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COX7B
(K36R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COX7B
Single nucleotide variant
not provided
GBenign
ATP7A, COX7B
Single nucleotide variant
not provided
+1 more
GLikely benign
COX7B
Single nucleotide variant
not provided
GLikely benign
ALG13, AMMECR1
+488 more
Copy number gain
not provided
GPathogenic
AWAT2, BCLAF3
+568 more
Copy number gain
not provided
GUncertain significance
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