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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTOR
(S2215Y)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
MTOR
(S2215F)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
MTOR
(S2215T)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+6 more
GLikely pathogenic
PIK3CA
(E542Q)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+17 more
GPathogenic/Likely pathogenic
PIK3CA
(E542K)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
+1 more
GPathogenic
OOncogenic
PIK3CA
(E542G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
PIK3CA
(E542V)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+15 more
GLikely pathogenic
PIK3CA
(E542A)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+16 more
GPathogenic/Likely pathogenic
PIK3CA
(E545Q)
Single nucleotide variant
(missense variant)
Small cell lung carcinoma
+26 more
GPathogenic/Likely pathogenic; drug response
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
OOncogenic
PIK3CA
(E545A)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
GPathogenic
PIK3CA
(E545G)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
GPathogenic
PIK3CA
(E545D)
Single nucleotide variant
(missense variant)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+1 more
GPathogenic/Likely pathogenic
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+17 more
GPathogenic
OOncogenic
FGFR3
(Y373C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
FBXW7
(R479L +2 more)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+11 more
GLikely pathogenic
FBXW7
(R479P +2 more)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+11 more
GLikely pathogenic
FBXW7
(R479Q +2 more)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+11 more
GLikely pathogenic
FBXW7
(R479G +2 more)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+11 more
GLikely pathogenic
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
STier I - Strong
OOncogenic
BRAF
(N581T +7 more)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma, sporadic
+6 more
GConflicting classifications of pathogenicity
BRAF
(N581S +7 more)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GLikely pathogenic
BRAF
(N581H +7 more)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GConflicting classifications of pathogenicity
RHEB
(Y35C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RHEB
(Y35N)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+3 more
GLikely pathogenic
CDKN2A
(R80Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+1 more
GUncertain significance
HRAS, LRRC56
(G12A)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+8 more
GPathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
TP53
(S109Y +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
OOncogenic
TP53
(S109C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GPathogenic/Likely pathogenic
TP53
(S241F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+15 more
GPathogenic/Likely pathogenic
OOncogenic
TP53
(S109A +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(S109P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(Y220S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
TP53
(Y181D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(Y181N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
(Y181H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(H154P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(H154L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(H154R +3 more)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+5 more
GPathogenic/Likely pathogenic
TP53
(H154N +3 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+19 more
GLikely pathogenic
TP53
(H154D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
TP53
(H154Y +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GPathogenic/Likely pathogenic
ERBB2
(L725M +17 more)
Single nucleotide variant
(missense variant +2 more)
Papillary renal cell carcinoma, sporadic
+6 more
GLikely pathogenic
ERBB2
(L755P +17 more)
Indel
(missense variant +2 more)
Breast neoplasm
+7 more
GPathogenic/Likely pathogenic
ERBB2
(L725W +17 more)
Single nucleotide variant
(missense variant +2 more)
Malignant neoplasm of body of uterus
+6 more
GLikely pathogenic
ERBB2
(L725S +17 more)
Single nucleotide variant
(missense variant +2 more)
Breast neoplasm
+7 more
GLikely pathogenic
OOncogenic
ARAF
(S214A +1 more)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma, sporadic
+2 more
GLikely pathogenic
ARAF
(S214F +1 more)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma, sporadic
+2 more
GLikely pathogenic
ARAF
(S214C +1 more)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma, sporadic
+2 more
GLikely pathogenic
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