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Links from MedGen

Items: 1 to 100 of 281

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(Y124H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(Y124N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(V142L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(V142A +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(V142G +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(V142D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(V142F +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(V134E +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(V134L +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
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
(P146H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(P146A +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(P146R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(P146T +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(P146S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
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
(L111Q +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(L111R +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(L111P +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(H140P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(H140D +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TP53
(H140N +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TP53
(H140L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(H140Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(H140R +3 more)
Single nucleotide variant
(missense variant)
TP53-related disorder
+4 more
GConflicting classifications of pathogenicity
TP53
(G134R +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 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
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
SF3B1
(K666Q)
Single nucleotide variant
(missense variant)
Breast neoplasm
+3 more
GLikely pathogenic
SF3B2
(H666P)
Single nucleotide variant
(missense variant)
B-cell chronic lymphocytic leukemia
+3 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
CNOT9
(P131S)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
GLikely pathogenic
RAF1
(S257W +3 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+1 more
GConflicting classifications of pathogenicity
RAC1
(P29T)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+3 more
GLikely pathogenic
RAC1
(P29L)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+3 more
GLikely pathogenic
PTEN
(R130L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PPP6C
(R242C +2 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+1 more
GLikely 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
(Q546H)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+12 more
GLikely pathogenic
PIK3CA
(H1047Q)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+21 more
GLikely pathogenic
MYC
(P58L +1 more)
Single nucleotide variant
(missense variant)
Lung adenocarcinoma
+4 more
GLikely pathogenic
MYC
(T73P +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+4 more
GLikely pathogenic
MTOR
(S2215T)
Single nucleotide variant
(missense variant)
Neoplasm of uterine cervix
+6 more
GLikely pathogenic
MAP2K2
(F57L)
Single nucleotide variant
(missense variant)
Pancreatic adenocarcinoma
+3 more
GLikely pathogenic
MAP2K1
(K57T)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+5 more
GLikely pathogenic
MAP2K1
(F53I)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+3 more
GLikely pathogenic
MAP2K1
(F53V)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+3 more
GLikely pathogenic
MAP2K1
(F53L)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+3 more
GLikely pathogenic
HRAS, LRRC56
(Q61E)
Single nucleotide variant
(missense variant +1 more)
B-cell chronic lymphocytic leukemia
+12 more
GLikely pathogenic
KNSTRN
(S24F)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+1 more
GLikely pathogenic
KIT
(K642N +3 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+1 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
EZH2
(E641A +4 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+1 more
GLikely pathogenic
EZH2
(E641V +4 more)
Single nucleotide variant
(missense variant)
Non-Hodgkin lymphoma
+1 more
GLikely pathogenic
ERBB2
(L725M +17 more)
Single nucleotide variant
(missense variant +2 more)
Papillary renal cell carcinoma, sporadic
+6 more
GLikely pathogenic
CTNNB1, LOC126806658
(T41N +1 more)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+7 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33T +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 more
GLikely pathogenic
CTNNB1, LOC126806658
(S33A +1 more)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+10 more
GLikely pathogenic
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