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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTEN
Single nucleotide variant
(5 prime UTR variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(L162fs)
Microsatellite
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PTEN
(S168T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cowden syndrome 1
GUncertain significance
PTEN
(R14fs +1 more)
Duplication
(frameshift variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(P203L +1 more)
Single nucleotide variant
(missense variant +1 more)
Glioma susceptibility 2
+1 more
GUncertain significance
PTEN
(R47K +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GLikely pathogenic
PTEN
(N48K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
+2 more
GConflicting classifications of pathogenicity
PTEN
(Y68H +1 more)
Single nucleotide variant
(missense variant +1 more)
Glioma susceptibility 2
+7 more
GPathogenic/Likely pathogenic
PTEN
(Y68C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autism
+12 more
GPathogenic/Likely pathogenic
PTEN
(L70F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PTEN
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
Glioma susceptibility 2
+2 more
GLikely pathogenic
PTEN
(Y261fs +1 more)
Microsatellite
(frameshift variant +1 more)
Cowden syndrome 1
+1 more
GPathogenic/Likely pathogenic
PTEN
Deletion
(inframe deletion +1 more)
Glioma susceptibility 2
GLikely pathogenic
PTEN
(L273V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PTEN
(I101T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
PTEN
(Q110* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
PTEN
(N117H +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
+3 more
GUncertain significance
PTEN
(H118fs +1 more)
Insertion
(frameshift variant +1 more)
Glioma susceptibility 2
GLikely pathogenic
PTEN
(A120fs +1 more)
Deletion
(frameshift variant +1 more)
Glioma susceptibility 2
GLikely pathogenic
PTEN
(H123D +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(C124S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 1
+2 more
GPathogenic/Likely pathogenic
PTEN
(R130* +1 more)
Single nucleotide variant
(nonsense +1 more)
Glioma susceptibility 2
+8 more
GPathogenic
PTEN
(G132V +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
+5 more
GPathogenic/Likely pathogenic
PTEN
(C136R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
PTEN
(Y138fs +1 more)
Duplication
(frameshift variant +1 more)
Glioma susceptibility 2
GPathogenic
PTEN
(A151T +1 more)
Single nucleotide variant
(missense variant +1 more)
Glioma susceptibility 2
+2 more
GUncertain significance
PTEN
(Y155C +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(R159fs +1 more)
Duplication
(frameshift variant +1 more)
Glioma susceptibility 2
GLikely pathogenic
PTEN
(K164fs +1 more)
Deletion
(frameshift variant +1 more)
Cowden syndrome 1
+2 more
GPathogenic/Likely pathogenic
PTEN
Single nucleotide variant
(splice donor variant)
PTEN hamartoma tumor syndrome
GLikely pathogenic
PTEN
(V166I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PTEN
(R173C +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(Y176C +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
+3 more
GConflicting classifications of pathogenicity
PTEN
(L181P +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(R189* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cowden syndrome 1
+2 more
GPathogenic
PTEN
(M205V +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PTEN
(G381S +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
+2 more
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
Glioma susceptibility 2
GUncertain significance
PTEN
(S226F +2 more)
Single nucleotide variant
(missense variant)
Glioma susceptibility 2
+3 more
GUncertain significance
PTEN
(R233* +2 more)
Single nucleotide variant
(nonsense)
Glioma susceptibility 2
+6 more
GPathogenic/Likely pathogenic
PTEN
(R234W +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(E235K +2 more)
Single nucleotide variant
(missense variant)
Glioma susceptibility 2
GUncertain significance
PTEN
(D252G +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(I280V +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(P283L +2 more)
Single nucleotide variant
(missense variant)
Glioma susceptibility 2
+2 more
GUncertain significance
PTEN
(C296R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PTEN
(C296Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PTEN
(Q298E +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(E314A +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PTEN
(R335* +2 more)
Single nucleotide variant
(nonsense)
Cowden syndrome 1
+11 more
GPathogenic
PTEN
(T350fs +2 more)
Duplication
(frameshift variant)
Macrocephaly-autism syndrome
GPathogenic
PTEN
(V365I +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Microsatellite
(nonsense)
PTEN hamartoma tumor syndrome
+1 more
GUncertain significance
PTEN
(Y377F +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PTEN
(P391S +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Copy number loss
Cowden syndrome 1
GPathogenic
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