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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
Deletion
(intron variant)
not provided
+6 more
GBenign
TSC1
Deletion
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC2
(A1017fs +25 more)
Duplication
(frameshift variant +1 more)
Tuberous sclerosis syndrome
GPathogenic
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