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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTEN
(K6E +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(Y16* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cowden syndrome 1
+3 more
GPathogenic
PTEN
(M35V +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PTEN
(F229I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PTEN
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
PTEN
Single nucleotide variant
(splice donor variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PTEN
(Q245P +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SUFU
(D111H)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
SMARCE1
(T12P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Familial meningioma
GUncertain significance
NF2
Single nucleotide variant
(splice donor variant +1 more)
Familial meningioma
GPathogenic
NF2
(R411H +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PDGFB
(L224P +1 more)
Single nucleotide variant
(missense variant)
Familial meningioma
GUncertain significance
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