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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTEN
Single nucleotide variant
(splice acceptor variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(Y68H +1 more)
Single nucleotide variant
(missense variant +1 more)
Glioma susceptibility 2
+7 more
GPathogenic/Likely pathogenic
PTEN
(I101T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
PTEN
(A126V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
PTEN
(R130Q +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(N357fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic
PTEN
Indel
(intron variant)
Cowden syndrome
+4 more
Gnot provided
PTEN
(G251D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PTEN
(S294R +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(D113fs +2 more)
Duplication
(frameshift variant)
Cowden syndrome 1
GPathogenic
PTEN
Copy number gain
not provided
Gnot provided
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