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Links from MedGen

Items: 1 to 100 of 1864

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTEN
(S10T +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(L121R +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(R234L +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(D250G +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
+1 more
GUncertain significance
PTEN
(A192G +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Insertion
(inframe_insertion)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(P142A +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Deletion
(3 prime UTR variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(3 prime UTR variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(V20L +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(I205M +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(K164M +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(F238S +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
(P244L +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(K239Q +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(R247* +1 more)
Duplication
(nonsense +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Deletion
(intron variant)
PTEN hamartoma tumor syndrome
GBenign
PTEN
Single nucleotide variant
(5 prime UTR variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Duplication
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(I306M +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(D197E +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(N114I +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(I240L +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(L194* +1 more)
Single nucleotide variant
(nonsense +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
Duplication
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
PTEN
(N465I +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(C218R +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(G329K +1 more)
Indel
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(E38fs +2 more)
Deletion
(frameshift variant)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(I240V +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(A151V +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(T151P +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(splice acceptor variant)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(M73fs +2 more)
Insertion
(frameshift variant)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(E216A +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Duplication
(inframe_insertion +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Deletion
(inframe_deletion +2 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(synonymous variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(F18L +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(M239fs +2 more)
Deletion
(frameshift variant)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(E264G +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(T167fs +1 more)
Duplication
(frameshift variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(S141Y +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(A365S +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(N228T +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(H445Q +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Duplication
(splice acceptor variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(T232K +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(synonymous variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(L196S +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Deletion
(nonsense +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(N94Y +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(P51L +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(P211fs +1 more)
Deletion
(frameshift variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(R14W +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(S380I +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(synonymous variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(F229Y +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(M2I +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(T459N +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(I101L +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(synonymous variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(Y189S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(D236A +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(Y189C +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
+1 more
GConflicting classifications of pathogenicity
PTEN
Single nucleotide variant
(synonymous variant +1 more)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(E102K +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(T89A +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(K239fs +1 more)
Insertion
(frameshift variant +1 more)
PTEN hamartoma tumor syndrome
+1 more
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
Single nucleotide variant
(splice acceptor variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(Q434H +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(E429G +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
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