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Links from MedGen

Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(R148G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
(R148K +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(L155P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(L155H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(L155R +3 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+3 more
GConflicting classifications of pathogenicity
TP53
(K132M +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(K132Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(K132T +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(K132E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TP53
(K132R +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(K132N +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GLikely pathogenic
TP53
(C106G +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
TP53
(C106R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(C106S +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TP53
(C106F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic/Likely pathogenic
SMAD4
(R361P)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+7 more
GLikely pathogenic
PTEN
(R233Q +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PTEN
(R130L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PIK3CA
(V344A)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+7 more
GLikely pathogenic
PIK3CA
(V344M)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+3 more
GPathogenic
PIK3CA
(V344G)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
PIK3CA
(R38G)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+5 more
GLikely pathogenic
PIK3CA
(R38L)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+5 more
GLikely pathogenic
PIK3CA
(R38S)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+5 more
GLikely pathogenic
PIK3CA
(R38C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIK3CA
(R38H)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GLikely pathogenic
PIK3CA
(Q546H)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+12 more
GLikely pathogenic
PIK3CA
(K111R)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+10 more
GLikely pathogenic
PIK3CA
(K111N)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(K111E)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GPathogenic
PIK3CA
(H1047Q)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+21 more
GLikely pathogenic
PIK3CA
(G106R)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+5 more
GLikely pathogenic
PIK3CA
(G106V)
Single nucleotide variant
(missense variant)
Cowden syndrome
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(E81K)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+3 more
GPathogenic
PIK3CA
(E726A)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+7 more
GLikely pathogenic
PIK3CA
(E726K)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
PIK3CA
(E542G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
PIK3CA
(E542V)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+15 more
GLikely pathogenic
PIK3CA
(E542A)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+16 more
GPathogenic/Likely pathogenic
NFE2L2
(E63D +2 more)
Single nucleotide variant
(missense variant +1 more)
Neoplasm of uterine cervix
+5 more
GLikely pathogenic
NFE2L2
(E63V +2 more)
Single nucleotide variant
(missense variant +2 more)
Neoplasm of uterine cervix
+5 more
GLikely pathogenic
NFE2L2
(E63K +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Neoplasm of uterine cervix
+6 more
GPathogenic/Likely pathogenic
NFE2L2
(E63Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Neoplasm of uterine cervix
+5 more
GLikely pathogenic
NFE2L2
(D13G +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant neoplasm of body of uterus
+6 more
GLikely pathogenic
NFE2L2
(D13N +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant neoplasm of body of uterus
+6 more
GLikely pathogenic
NFE2L2
(D13Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant neoplasm of body of uterus
+6 more
GLikely pathogenic
NFE2L2
(D13H +1 more)
Single nucleotide variant
(missense variant +1 more)
Neoplasm of uterine cervix
+6 more
GLikely pathogenic
MTOR
(S2215T)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+6 more
GLikely pathogenic
MAPK1
(E322K)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+2 more
GLikely pathogenic
HRAS, LRRC56
(G13A)
Single nucleotide variant
(missense variant +1 more)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
HRAS, LRRC56
(A146P)
Single nucleotide variant
(missense variant +1 more)
Multiple myeloma
+5 more
GLikely pathogenic
FBXW7
(R658Q +2 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+7 more
GLikely pathogenic
FBXW7
(R505S +2 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+11 more
GLikely pathogenic
FBXW7
(R505H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBXW7
(R505L +2 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+11 more
GLikely pathogenic
FBXW7
(R505G +2 more)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+11 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
FBXW7
(R465G +2 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+13 more
GLikely pathogenic
FBXW7
(R465L +2 more)
Single nucleotide variant
(missense variant)
Lung adenocarcinoma
+13 more
GLikely pathogenic
FBXW7
(R465P +2 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+13 more
GLikely pathogenic
FBXW7
(R465H +2 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+13 more
GLikely pathogenic
FBXW7
(R465C +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ERBB3
(V104L)
Single nucleotide variant
(missense variant)
Gallbladder carcinoma
+7 more
GLikely pathogenic
ERBB3
(V104M)
Single nucleotide variant
(missense variant)
Transitional cell carcinoma of the bladder
+8 more
GPathogenic/Likely pathogenic
ERBB2
(D739N +17 more)
Single nucleotide variant
(missense variant +2 more)
Gastric adenocarcinoma
+4 more
GLikely pathogenic
EP300
(D1399Y +1 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+5 more
GLikely pathogenic
EP300
(D1399N +1 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+5 more
GLikely pathogenic
CREBBP
(R1446G +1 more)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+10 more
GLikely pathogenic
CREBBP
(R1446H +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+10 more
GLikely pathogenic
CREBBP
(R1446L +1 more)
Single nucleotide variant
(missense variant)
Adenoid cystic carcinoma
+10 more
GLikely pathogenic
PIK3CA
(E542Q)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+17 more
GPathogenic/Likely pathogenic
LOC126806658, CTNNB1
(S37A +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
CTNNB1, LOC126806658
(S37P +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32V +1 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32A +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32N +1 more)
Single nucleotide variant
(missense variant)
Juvenile nasopharyngeal angiofibroma
GPathogenic
ERBB2
(S280F +7 more)
Single nucleotide variant
(missense variant +1 more)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
ERBB2
(S280Y +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
MTOR
(S2215Y)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
CTNNB1, LOC126806658
(D32H +1 more)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+8 more
GLikely pathogenic
U2AF1
(S34Y)
Single nucleotide variant
(missense variant +1 more)
Uterine carcinosarcoma
+8 more
GLikely pathogenic
U2AF1
(S34F)
Single nucleotide variant
(missense variant +1 more)
Uterine carcinosarcoma
+8 more
GLikely pathogenic
ERBB2
(D739Y +17 more)
Single nucleotide variant
(missense variant +2 more)
Gastric adenocarcinoma
+4 more
GPathogenic/Likely pathogenic
ERBB2
(D739H +17 more)
Single nucleotide variant
(missense variant +2 more)
Gastric adenocarcinoma
+4 more
GPathogenic/Likely pathogenic
PTEN
(R130G +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
PIK3CA
(Q546L)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+12 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546P)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+13 more
GPathogenic/Likely pathogenic
PIK3CA
(E545Q)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+26 more
GPathogenic/Likely pathogenic; drug response
CTNNB1, LOC126806658
(S37Y +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 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)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+1 more
GPathogenic/Likely pathogenic
GNAS
(R201L +5 more)
Single nucleotide variant
(missense variant +1 more)
Lung adenocarcinoma
+10 more
GLikely pathogenic
TP53
(C106Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G13V)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+1 more
GPathogenic
TP53
(R148I +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
MTOR
(S2215F)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
PIK3CA
(G118D)
Single nucleotide variant
(missense variant)
Cowden syndrome
+2 more
GPathogenic
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