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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKT1
(E17R)
Indel
(missense variant)
Proteus syndrome
GPathogenic
PTEN
(A126V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely pathogenic
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
+6 more
GBenign/Likely benign
AKT1
(E17K)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
+2 more
GPathogenic
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