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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(Y181N +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
OLikely oncogenic
TP53
(R116G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(C137F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GPathogenic/Likely pathogenic
OOncogenic
MTOR
(C1483Y)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
ERBB3
(V104M)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
+1 more
GPathogenic
OLikely oncogenic
FGFR4
(N535K +2 more)
Single nucleotide variant
(missense variant)
Neoplasm
OOncogenic
TP53
(S176G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+4 more
GConflicting classifications of pathogenicity
ATM
(R337S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
TP53
(C137Y +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+6 more
GPathogenic
TP53
(H154R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+5 more
GPathogenic/Likely pathogenic
EGFR
Deletion
(inframe_deletion)
Lung adenocarcinoma
+2 more
GConflicting classifications of pathogenicity
OOncogenic
CREBBP
(R1446C +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+2 more
GPathogenic/Likely pathogenic
OOncogenic
BRAF
(K601Q +7 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GPathogenic
CDK4
(R24H)
Single nucleotide variant
(missense variant)
Familial melanoma
+1 more
GPathogenic
BRAF
(G469R +7 more)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
+1 more
GPathogenic/Likely pathogenic
PTPN11
(E76K +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
OOncogenic
TP53
(R248W +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
OOncogenic
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