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Links from MedGen

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(Y181D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(Y181N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(Y181H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(S109A +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
TP53
(S109P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(S109Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
TP53
(H154N +3 more)
Single nucleotide variant
(missense variant)
Hepatocellular carcinoma
+19 more
GLikely pathogenic
TP53
(H154D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(H154P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
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
PIK3CA
(E542G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
PIK3CA
(E542V)
Single nucleotide variant
(missense variant)
Glioblastoma
+15 more
GLikely pathogenic
PIK3CA
(E542A)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+16 more
GPathogenic/Likely pathogenic
MTOR
(S2215T)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+6 more
GLikely pathogenic
FBXW7
(R479G +2 more)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+11 more
GLikely pathogenic
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
ERBB2
(L725M +17 more)
Single nucleotide variant
(missense variant +2 more)
Papillary renal cell carcinoma, sporadic
+6 more
GLikely pathogenic
CDKN2A
(R80Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial melanoma
+1 more
GUncertain significance
BRAF
(N581T +7 more)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma, sporadic
+6 more
GConflicting classifications of pathogenicity
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
ERBB2
(L725W +17 more)
Single nucleotide variant
(missense variant +2 more)
Malignant neoplasm of body of uterus
+6 more
GLikely pathogenic
PIK3CA
(E542Q)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma, sporadic
+17 more
GPathogenic/Likely pathogenic
ARAF
(S214C +1 more)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma, sporadic
+2 more
GLikely pathogenic
MTOR
(S2215Y)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
ERBB2
(L725S +17 more)
Single nucleotide variant
(missense variant +2 more)
Malignant neoplasm of body of uterus
+6 more
GLikely pathogenic
PIK3CA
(E545Q)
Single nucleotide variant
(missense variant)
Nasopharyngeal neoplasm
+26 more
GPathogenic/Likely pathogenic; drug response
TP53
(H154Y +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GPathogenic/Likely pathogenic
PIK3CA
(E545A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 5
GPathogenic
PIK3CA
(E545D)
Single nucleotide variant
(missense variant)
Cowden syndrome
+1 more
GPathogenic/Likely pathogenic
TP53
(H154L +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(H154R +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
TP53
(S109C +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRAF
(N581S +7 more)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GLikely pathogenic
MTOR
(S2215F)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
BRAF
(N581H +7 more)
Single nucleotide variant
(missense variant)
BRAF-related condition
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(E542K)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
FGFR3
(Y373C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+17 more
GPathogenic
OOncogenic
BRAF
(V600E +7 more)
Single nucleotide variant
(missense variant)
Vascular malformation
+3 more
GPathogenic
STier I - Strong
ERBB2
(L755P +17 more)
Indel
(missense variant +2 more)
Gastric adenocarcinoma
+7 more
GPathogenic/Likely pathogenic
PIK3CA
(E545A)
Single nucleotide variant
(missense variant)
Neoplasm of ovary
GPathogenic
PIK3CA
(E545G)
Single nucleotide variant
(missense variant)
Melanoma
+26 more
GPathogenic/Likely pathogenic
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
Eccrine Angiomatous Hamartoma
+4 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+6 more
GPathogenic
HRAS, LRRC56
(G12A)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome and Noonan-related syndrome
+8 more
GPathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
TP53
(Y220S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
TP53
(S241F +3 more)
Single nucleotide variant
(missense variant)
Bone marrow failure syndrome 5
+14 more
GPathogenic/Likely pathogenic
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