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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
TPK1, LOC129999527
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
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