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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(Q650fs +3 more)
Deletion
(frameshift variant)
See cases
GLikely pathogenic
TSC1
(R509* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
(Y150* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+2 more
GPathogenic
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