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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
UBE2G2
(W82* +2 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
See cases
GPathogenic
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