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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MIR578, MSMO1
+64 more
Copy number gain
See cases
GPathogenic
NAF1
(I162V)
Single nucleotide variant
(missense variant)
not provided
GBenign
AADAT, ADAM29
+40 more
Copy number loss
See cases
GPathogenic
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+142 more
Copy number gain
See cases
GPathogenic
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