U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 277

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(Y102N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
TP53
(Y102H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(Y102S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
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)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(Y181H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TP53
(V140E +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
TP53
(T125R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(T125P +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
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
(S109Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TP53
(R150P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+14 more
GPathogenic/Likely pathogenic
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
(R141S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic
TP53
(R141L +3 more)
Single nucleotide variant
(missense variant)
Nasopharyngeal carcinoma
+14 more
GPathogenic
TP53
(R116G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(R174G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(R174L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(R136G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(Q105H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TP53
(Q105L +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(P112A +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+1 more
GPathogenic
TP53
(P112R +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(P112H +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
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
(H175L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(H175R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GLikely 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
(H154P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(G134R +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
TP53
(G113R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(G113V +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
TP53
(E154A +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
GLikely pathogenic
TP53
(E154V +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(E154Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
TP53
(E154G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(D149A +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
GLikely pathogenic
TP53
(D149H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(D149E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TP53
(D149N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
TP53
(D149Y +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GPathogenic/Likely pathogenic
TP53
(C143R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(C143S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(C143F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(C110G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(C110W +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(C110S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(C110F +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
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
TP53
(C137R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
(C137W +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(C137G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(C137S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
(C137F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(C135G +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GLikely pathogenic
TP53
(C135S +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(C135W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TP53
(C135R +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+1 more
GPathogenic/Likely pathogenic
TP53
(C135F +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+2 more
GPathogenic/Likely pathogenic
SF3B1
(R625G)
Single nucleotide variant
(missense variant)
B-cell chronic lymphocytic leukemia
+3 more
GLikely pathogenic
SF3B1
(R625C)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+3 more
GLikely pathogenic
SF3B1
(R625H)
Single nucleotide variant
(missense variant)
Uveal melanoma
GLikely pathogenic
RXRA
(S330Y +2 more)
Single nucleotide variant
(missense variant)
Pancreatic adenocarcinoma
+2 more
GLikely pathogenic
RXRA
(S330F +2 more)
Single nucleotide variant
(missense variant)
Pancreatic adenocarcinoma
+2 more
GLikely pathogenic
CNOT9
(S87C)
Single nucleotide variant
(missense variant +1 more)
Prostate adenocarcinoma
+4 more
GLikely pathogenic
CNOT9
(S87P)
Single nucleotide variant
(missense variant +1 more)
Gastric adenocarcinoma
+4 more
GLikely pathogenic
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
PTEN
(R233Q +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GUncertain significance
PIK3CA
(Q546H)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+12 more
GLikely pathogenic
PIK3CA
(M1043L)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+10 more
GLikely pathogenic
PIK3CA
(M1043T)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+10 more
GLikely pathogenic
PIK3CA
(M1043V)
Single nucleotide variant
(missense variant)
Pancreatic adenocarcinoma
+10 more
GLikely pathogenic
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
(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
PIK3CA
(E453D)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
PIK3CA
(E453Q)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+9 more
GLikely pathogenic
PIK3CA
(E453K)
Single nucleotide variant
(missense variant)
CLOVES syndrome
+5 more
GPathogenic
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
Format
Items per page
Sort by
Choose Destination