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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(H1047L)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GPathogenic
PTEN
(R130* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cowden syndrome 1
+8 more
GPathogenic
PTEN
(R233* +2 more)
Single nucleotide variant
(nonsense)
not provided
+6 more
GPathogenic/Likely pathogenic
PTEN
(R335* +2 more)
Single nucleotide variant
(nonsense)
Cowden syndrome 1
+12 more
GPathogenic
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