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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLLN, PTEN
Single nucleotide variant
(5 prime UTR variant)
PTEN hamartoma tumor syndrome
GLikely benign
KLLN, LOC130004273
+1 more
Single nucleotide variant
(5 prime UTR variant)
PTEN hamartoma tumor syndrome
GLikely benign
LOC130004273, PTEN
Single nucleotide variant
(5 prime UTR variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(L171V)
Single nucleotide variant
(5 prime UTR variant +1 more)
PTEN hamartoma tumor syndrome
GBenign
PTEN
(L25V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PTEN
Deletion
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PTEN
(P30T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PTEN
(R41I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PTEN
Single nucleotide variant
(synonymous variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Microsatellite
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(L57W +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GLikely pathogenic
PTEN
(H64Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PTEN
(Y68N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PTEN
(L70F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Microsatellite
(intron variant)
PTEN hamartoma tumor syndrome
GBenign
PTEN
Duplication
(intron variant)
PTEN hamartoma tumor syndrome
GBenign
PTEN
(P89S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PTEN
Duplication
(inframe_insertion +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(K102Q +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(C105Y +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GLikely pathogenic
PTEN
(W111R +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GLikely pathogenic
PTEN
(I122V +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(R130Q +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(G132D +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(R142W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
PTEN
(Q171* +1 more)
Single nucleotide variant
(nonsense +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(N184fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
PTEN
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
PTEN
Single nucleotide variant
(splice acceptor variant)
Cowden syndrome 1
+2 more
GPathogenic/Likely pathogenic
PTEN
(S229T +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(R234W +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(M239V +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(synonymous variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Duplication
(intron variant)
Glioma susceptibility 2
+7 more
GBenign/Likely benign
PTEN
Duplication
(intron variant)
Malignant tumor of prostate
+8 more
GBenign
PTEN
(N449fs +2 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
PTEN
(T277K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PTEN
(P281A +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(C296R +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PTEN
(I306V +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
+2 more
GUncertain significance
PTEN
(R308H +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PTEN
(T122fs +2 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
PTEN
(R335* +2 more)
Single nucleotide variant
(nonsense)
Malignant tumor of prostate
+12 more
GPathogenic
PTEN
(N340D +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
PTEN
(K342N +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PTEN
(P354Q +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(P354L +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(D368E +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PTEN
Single nucleotide variant
(synonymous variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(P391S +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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