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Items: 1 to 100 of 227

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:70357729
GRCh38:
ChrX:71137879
MED12Glioblastomaother
(May 1, 2016)
no assertion criteria provided
2.
GRCh37:
Chr1:226252155
GRCh38:
Chr1:226064454
H3F3AGlioblastomaother
(May 1, 2016)
no assertion criteria provided
3.
GRCh37:
Chr17:7577581
GRCh38:
Chr17:7674263
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Squamous cell lung carcinoma, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Carcinoma of esophagusColorectal Neoplasms,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Adenocarcinoma of prostate, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
4.
GRCh37:
Chr17:7577581
GRCh38:
Chr17:7674263
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladderNeoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Adrenocortical carcinoma,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of prostate,
...see more
Conflicting interpretations of pathogenicity
(Jun 13, 2017)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr17:7577580
GRCh38:
Chr17:7674262
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Squamous cell lung carcinoma, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Carcinoma of esophagusColorectal Neoplasms,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Adenocarcinoma of prostate, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
6.
GRCh37:
Chr17:7578191
GRCh38:
Chr17:7674873
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Colorectal Neoplasms,
Papillary renal cell carcinoma, sporadic, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Adenocarcinoma of prostate, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
7.
GRCh37:
Chr17:7578191
GRCh38:
Chr17:7674873
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaHereditary cancer-predisposing syndrome,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder, Neoplasm of the large intestine,
Colorectal Neoplasms, Papillary renal cell carcinoma, sporadic, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Adenocarcinoma of prostate,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(Apr 20, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr17:7578191
GRCh38:
Chr17:7674873
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaHereditary cancer-predisposing syndrome,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder, Neoplasm of the large intestine,
Colorectal Neoplasms, Papillary renal cell carcinoma, sporadic, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Adenocarcinoma of prostate,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr17:7578236
GRCh38:
Chr17:7674918
TP53Liver cancer, Non-Hodgkin lymphoma, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Li-Fraumeni syndrome 1, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1,
Neoplasm of brain, Neoplasm of the breastGlioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, ...see more
Uncertain significance
(May 23, 2018)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:7578236
GRCh38:
Chr17:7674918
TP53Liver cancer, Non-Hodgkin lymphoma, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
11.
GRCh37:
Chr17:7578236
GRCh38:
Chr17:7674918
TP53Liver cancer, Non-Hodgkin lymphoma, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Li-Fraumeni syndrome 1, Lung adenocarcinoma,
Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Jun 28, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr17:7578235
GRCh38:
Chr17:7674917
TP53Liver cancer, Non-Hodgkin lymphoma, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
13.
GRCh37:
Chr17:7578235
GRCh38:
Chr17:7674917
TP53Liver cancer, Non-Hodgkin lymphoma, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
14.
GRCh37:
Chr17:7578235
GRCh38:
Chr17:7674917
TP53Liver cancer, Non-Hodgkin lymphoma, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 1, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr17:7578202
GRCh38:
Chr17:7674884
TP53Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Carcinoma of esophagus,
Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
16.
GRCh37:
Chr17:7578202
GRCh38:
Chr17:7674884
TP53Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Carcinoma of esophagus,
Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
17.
GRCh37:
Chr17:7578203
GRCh38:
Chr17:7674885
TP53Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Carcinoma of esophagus,
Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
18.
GRCh37:
Chr17:7579313
GRCh38:
Chr17:7675995
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Acute myeloid leukemia, Renal cell carcinoma, papillary, 1,
Neoplasm of brain, Neoplasm of the breastGlioblastoma,
Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder, Brainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
...see more
Conflicting interpretations of pathogenicity
(Oct 18, 2017)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr17:7579314
GRCh38:
Chr17:7675996
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Acute myeloid leukemia, Renal cell carcinoma, papillary, 1, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder,
Brainstem glioma, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adrenocortical carcinoma, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
20.
GRCh37:
Chr17:7577560
GRCh38:
Chr17:7674242
TP53Non-Hodgkin lymphoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Renal cell carcinoma, papillary, 1, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladderBrainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Papillary renal cell carcinoma, sporadic, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, Carcinoma of gallbladder, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
21.
GRCh37:
Chr17:7577560
GRCh38:
Chr17:7674242
TP53Non-Hodgkin lymphoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Renal cell carcinoma, papillary, 1, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladderBrainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Papillary renal cell carcinoma, sporadic, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, Carcinoma of gallbladder, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
22.
GRCh37:
Chr17:7577559
GRCh38:
Chr17:7674241
TP53Non-Hodgkin lymphoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Renal cell carcinoma, papillary, 1, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladderBrainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Papillary renal cell carcinoma, sporadic, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, Carcinoma of gallbladder, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
23.
GRCh37:
Chr17:7577093
GRCh38:
Chr17:7673775
TP53Liver cancer, Non-Hodgkin lymphoma, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Adenocarcinoma of prostate, ...see more
Likely pathogenic
(Jul 2, 2018)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr17:7577121
GRCh38:
Chr17:7673803
TP53Liver cancer, Chronic lymphocytic leukemia, Medulloblastoma,
Malignant melanoma of skin, Multiple myeloma, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Acute myeloid leukemiaNeoplasm of brain,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Brainstem glioma, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adrenocortical carcinoma, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Adenocarcinoma of prostate,
Uterine Carcinosarcoma, ...see more
Pathogenic/Likely pathogenic
(May 17, 2018)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:7577120
GRCh38:
Chr17:7673802
TP53Liver cancer, Chronic lymphocytic leukemia, Medulloblastoma,
Malignant melanoma of skin, Multiple myeloma, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Acute myeloid leukemia, Neoplasm of brainNeoplasm of the breast,
Glioblastoma, Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder, Brainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Adenocarcinoma of prostate, Uterine Carcinosarcoma,
Metastatic pancreatic neuroendocrine tumours, ...see more
Pathogenic
(Aug 18, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr17:7577536
GRCh38:
Chr17:7674218
TP53Liver cancer, Medulloblastoma, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, not provided, Glioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinomaSquamous cell carcinoma of the skin,
Carcinoma of esophagus, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Adenocarcinoma of prostate, Uterine Carcinosarcoma,
...see more
Uncertain significance
(Aug 11, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr17:7577535
GRCh38:
Chr17:7674217
TP53Liver cancer, Medulloblastoma, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Glioblastoma, Hepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skinCarcinoma of esophagus,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Adenocarcinoma of prostate, Uterine Carcinosarcoma, ...see more
Uncertain significance
(Jun 8, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr17:7577539
GRCh38:
Chr17:7674221
TP53Liver cancer, Chronic lymphocytic leukemia, Medulloblastoma,
Malignant melanoma of skin, Multiple myeloma, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Carcinoma of colon,
Li-Fraumeni syndrome, Squamous cell lung carcinomaAcute myeloid leukemia,
Myelodysplastic syndrome, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinoma, Pancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder, Brainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Adenocarcinoma of prostate, Uterine Carcinosarcoma, ...see more
Likely pathogenic
(Dec 18, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:7578212
GRCh38:
Chr17:7674894
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinomaSquamous cell carcinoma of the skin,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenoid cystic carcinoma, Nasopharyngeal Neoplasms,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Adenocarcinoma of prostate, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
30.
GRCh37:
Chr17:7578211
GRCh38:
Chr17:7674893
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinomaSquamous cell carcinoma of the skin,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenoid cystic carcinoma, Nasopharyngeal Neoplasms,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Adenocarcinoma of prostate, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
31.
GRCh37:
Chr17:7578407
GRCh38:
Chr17:7675089
TP53Liver cancer, Chronic lymphocytic leukemia, Medulloblastoma,
Malignant melanoma of skin, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Brainstem glioma, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Nasopharyngeal Neoplasms, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Adenocarcinoma of prostate,
Uterine Carcinosarcoma, Carcinoma of gallbladder, ...see more
Pathogenic/Likely pathogenic
(May 17, 2018)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:7578268
GRCh38:
Chr17:7674950
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinoma, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestineColorectal Neoplasms,
Uterine cervical neoplasms, Ovarian Serous Cystadenocarcinoma, ...see more
Uncertain significance
(Dec 11, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr17:7578268
GRCh38:
Chr17:7674950
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestineColorectal Neoplasms,
Uterine cervical neoplasms, Ovarian Serous Cystadenocarcinoma, ...see more
Uncertain significance
(Jul 19, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr17:7578268
GRCh38:
Chr17:7674950
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladderNeoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Ovarian Serous Cystadenocarcinoma,
...see more
Uncertain significance
(Jan 10, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:7579355
GRCh38:
Chr17:7676037
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Squamous cell lung carcinoma, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Carcinoma of esophagus, Adenocarcinoma of stomach
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
36.
GRCh37:
Chr17:7579355
GRCh38:
Chr17:7676037
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Squamous cell lung carcinoma, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Carcinoma of esophagus, Adenocarcinoma of stomach
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
37.
GRCh37:
Chr17:7579355
GRCh38:
Chr17:7676037
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, not specified,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Carcinoma of esophagus, Adenocarcinoma of stomach ...see more
Uncertain significance
(Jun 23, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:7578535
GRCh38:
Chr17:7675217
TP53Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestineCarcinoma of esophagus,
Colorectal Neoplasms, Uterine cervical neoplasms, Adrenocortical carcinoma,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma,
...see more
Uncertain significance
(Apr 4, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr17:7578536
GRCh38:
Chr17:7675218
TP53Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Squamous cell lung carcinoma, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Carcinoma of esophagusColorectal Neoplasms,
Uterine cervical neoplasms, Adrenocortical carcinoma, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
40.
GRCh37:
Chr17:7578535
GRCh38:
Chr17:7675217
TP53Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Squamous cell lung carcinoma, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Carcinoma of esophagusColorectal Neoplasms,
Uterine cervical neoplasms, Adrenocortical carcinoma, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
41.
GRCh37:
Chr17:7578536
GRCh38:
Chr17:7675218
TP53Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Hereditary cancer-predisposing syndrome,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladderNeoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Uterine cervical neoplasms,
Adrenocortical carcinoma, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Uterine Carcinosarcoma, ...see more
Conflicting interpretations of pathogenicity
(Dec 20, 2016)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr17:7578535
GRCh38:
Chr17:7675217
TP53Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestineCarcinoma of esophagus,
Colorectal Neoplasms, Uterine cervical neoplasms, Adrenocortical carcinoma,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma,
...see more
Uncertain significance
(Dec 6, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr17:7578534
GRCh38:
Chr17:7675216
TP53Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestineCarcinoma of esophagus,
Colorectal Neoplasms, Uterine cervical neoplasms, Adrenocortical carcinoma,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(Jul 2, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr17:7577517
GRCh38:
Chr17:7674199
TP53Chronic lymphocytic leukemia, Lung adenocarcinoma, Li-Fraumeni syndrome,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Pancreatic adenocarcinoma, Carcinoma of esophagus
Uncertain significance
(Oct 22, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr17:7577517
GRCh38:
Chr17:7674199
TP53Chronic lymphocytic leukemia, Lung adenocarcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Carcinoma of esophagus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
46.
GRCh37:
Chr17:7577518
GRCh38:
Chr17:7674200
TP53Chronic lymphocytic leukemia, Lung adenocarcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Pancreatic adenocarcinoma,
Carcinoma of esophagus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
47.
GRCh37:
Chr17:7578264
GRCh38:
Chr17:7674946
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Acute myeloid leukemia, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Oct 30, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr17:7578265
GRCh38:
Chr17:7674947
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Acute myeloid leukemia, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
49.
GRCh37:
Chr17:7578265
GRCh38:
Chr17:7674947
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Acute myeloid leukemia, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(May 30, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr17:7578266
GRCh38:
Chr17:7674948
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Squamous cell lung carcinoma,
Acute myeloid leukemia, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
51.
GRCh37:
Chr17:7578208
GRCh38:
Chr17:7674890
TP53Liver cancer, Chronic lymphocytic leukemia, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Glioblastoma, Hepatocellular carcinoma,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal NeoplasmsAdenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
52.
GRCh37:
Chr17:7578208
GRCh38:
Chr17:7674890
TP53Liver cancer, Chronic lymphocytic leukemia, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1, Glioblastoma,
Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestineCarcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
...see more
Conflicting interpretations of pathogenicity
(Aug 1, 2017)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:7578394
GRCh38:
Chr17:7675076
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Acute myeloid leukemia, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, Carcinoma of gallbladder,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
54.
GRCh37:
Chr17:7578395
GRCh38:
Chr17:7675077
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Acute myeloid leukemia, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, Carcinoma of gallbladder,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
55.
GRCh37:
Chr17:7578395
GRCh38:
Chr17:7675077
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Acute myeloid leukemia, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, Carcinoma of gallbladder, ...see more
Conflicting interpretations of pathogenicity
(Mar 2, 2018)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr17:7578394
GRCh38:
Chr17:7675076
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Acute myeloid leukemia, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma,
Carcinoma of gallbladder, ...see more
Uncertain significance
(Jun 28, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr17:7578393
GRCh38:
Chr17:7675075
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Squamous cell lung carcinoma,
Acute myeloid leukemia, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, Carcinoma of gallbladder,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
58.
GRCh37:
Chr17:7578394
GRCh38:
Chr17:7675076
TP53Liver cancer, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Small cell lung cancer, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Acute myeloid leukemia, Neoplasm of brain,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Adenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma,
Carcinoma of gallbladder, ...see more
Uncertain significance
(Dec 27, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr17:7577142
GRCh38:
Chr17:7673824
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck, Small cell lung cancer, Lung adenocarcinoma,
Squamous cell lung carcinoma, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
60.
GRCh37:
Chr17:7577548
GRCh38:
Chr17:7674230
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladderBrainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of prostate,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Sep 11, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr17:7577547
GRCh38:
Chr17:7674229
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell lung carcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladderBrainstem glioma,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of prostate,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(Apr 28, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr17:7577551
GRCh38:
Chr17:7674233
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Lung adenocarcinoma, Squamous cell lung carcinoma, Neoplasm of brain,
Glioblastoma, Hepatocellular carcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal NeoplasmsAdenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
63.
GRCh37:
Chr17:7577550
GRCh38:
Chr17:7674232
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Lung adenocarcinoma, Squamous cell lung carcinoma, Neoplasm of brain,
Glioblastoma, Hepatocellular carcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal NeoplasmsAdenocarcinoma of stomach,
Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus, Uterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
64.
GRCh37:
Chr17:7577551
GRCh38:
Chr17:7674233
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Lung adenocarcinoma, Li-Fraumeni syndrome, Squamous cell lung carcinoma,
Neoplasm of brain, Glioblastoma, Hepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Neoplasm of the large intestineCarcinoma of esophagus,
Colorectal Neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, ...see more
Pathogenic/Likely pathogenic
(Aug 24, 2017)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:7577551
GRCh38:
Chr17:7674233
TP53Liver cancer, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Lung adenocarcinoma, Li-Fraumeni syndrome, Squamous cell lung carcinoma,
Neoplasm of brain, Glioblastoma, Hepatocellular carcinoma,
Neoplasm of the large intestine, Carcinoma of esophagusColorectal Neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr17:7577096
GRCh38:
Chr17:7673778
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Neuroblastoma, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
67.
GRCh37:
Chr17:7577097
GRCh38:
Chr17:7673779
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Neuroblastoma, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
68.
GRCh37:
Chr17:7577095
GRCh38:
Chr17:7673777
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Neuroblastoma, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Li-Fraumeni syndrome, Squamous cell lung carcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of the breastGlioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin,
Transitional cell carcinoma of the bladder, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, ...see more
Uncertain significance
(Jan 3, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr17:7577097
GRCh38:
Chr17:7673779
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Neuroblastoma, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
70.
GRCh37:
Chr17:7577097
GRCh38:
Chr17:7673779
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Neuroblastoma, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1,
Neoplasm of the breast, GlioblastomaHepatocellular carcinoma,
Pancreatic adenocarcinoma, Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
71.
GRCh37:
Chr17:7577115
GRCh38:
Chr17:7673797
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adrenocortical carcinoma, Ovarian Serous Cystadenocarcinoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
72.
GRCh37:
Chr17:7577114
GRCh38:
Chr17:7673796
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaHereditary cancer-predisposing syndrome,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder, Neoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Adrenocortical carcinoma,
Ovarian Serous Cystadenocarcinoma, ...see more
Uncertain significance
(Mar 11, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr17:7577114
GRCh38:
Chr17:7673796
TP53Liver cancer, Chronic lymphocytic leukemia, Malignant melanoma of skin,
Multiple myeloma, Squamous cell carcinoma of the head and neck, Lung adenocarcinoma,
Renal cell carcinoma, papillary, 1, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinomaPancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Carcinoma of esophagus,
Colorectal Neoplasms, Adrenocortical carcinoma, Ovarian Serous Cystadenocarcinoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
74.
GRCh37:
Chr17:7577557
GRCh38:
Chr17:7674239
TP53Liver cancer, Chronic lymphocytic leukemia, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Li-Fraumeni syndrome, Squamous cell lung carcinoma,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Transitional cell carcinoma of the bladder, Carcinoma of esophagusAdenocarcinoma of stomach,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Sep 5, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr17:7577555
GRCh38:
Chr17:7674237
TP53Liver cancer, Chronic lymphocytic leukemia, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Squamous cell lung carcinoma, Neoplasm of the breast,
Glioblastoma, Hepatocellular carcinoma, Transitional cell carcinoma of the bladder,
Carcinoma of esophagus, Adenocarcinoma of stomachUterine Carcinosarcoma,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
76.
GRCh37:
Chr17:7577557
GRCh38:
Chr17:7674239
TP53Liver cancer, Chronic lymphocytic leukemia, Squamous cell carcinoma of the head and neck,
Li-Fraumeni syndrome 1, Lung adenocarcinoma, Squamous cell lung carcinoma,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Transitional cell carcinoma of the bladder, Carcinoma of esophagusAdenocarcinoma of stomach,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Jun 13, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr17:7577556
GRCh38:
Chr17:7674238
TP53Liver cancer, Chronic lymphocytic leukemia, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Li-Fraumeni syndrome, Squamous cell lung carcinoma,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Transitional cell carcinoma of the bladder, Carcinoma of esophagusAdenocarcinoma of stomach,
Uterine Carcinosarcoma, ...see more
Uncertain significance
(Jul 3, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr17:7577569
GRCh38:
Chr17:7674251
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladderNeoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Uterine cervical neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
79.
GRCh37:
Chr17:7577569
GRCh38:
Chr17:7674251
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Pancreatic adenocarcinomaTransitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Uterine cervical neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, ...see more
Pathogenic
(Jul 6, 2015)
criteria provided, single submitter
80.
GRCh37:
Chr17:7577568
GRCh38:
Chr17:7674250
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Neoplasm of brain,
Neoplasm of the breast, Glioblastoma, Hepatocellular carcinoma,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladderNeoplasm of the large intestine,
Carcinoma of esophagus, Colorectal Neoplasms, Uterine cervical neoplasms,
Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma, Malignant neoplasm of body of uterus,
Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
81.
GRCh37:
Chr17:7577568
GRCh38:
Chr17:7674250
TP53Liver cancer, Chronic lymphocytic leukemia, Multiple myeloma,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Li-Fraumeni syndrome,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Hepatocellular carcinoma, Pancreatic adenocarcinomaTransitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Carcinoma of esophagus, Colorectal Neoplasms,
Uterine cervical neoplasms, Adenocarcinoma of stomach, Ovarian Serous Cystadenocarcinoma,
Malignant neoplasm of body of uterus, Uterine Carcinosarcoma, ...see more
Pathogenic
(May 20, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr10:89717673
GRCh38:
Chr10:87957916
PTENPTEN hamartoma tumor syndrome, Glioblastoma, Hereditary cancer-predisposing syndrome,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Colorectal Neoplasms,
Uterine cervical neoplasms, Adenocarcinoma of stomach, Malignant neoplasm of body of uterus,
Adenocarcinoma of prostate, Uterine Carcinosarcoma ...see more
Uncertain significance
(Sep 29, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:89692905
GRCh38:
Chr10:87933148
PTENMalignant melanoma of skin, Squamous cell carcinoma of the head and neck, Small cell lung cancer,
Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1, not provided,
Neoplasm of the breast, Glioblastoma, Hereditary cancer-predisposing syndrome,
Neoplasm of the large intestine, Colorectal NeoplasmsUterine cervical neoplasms,
Adenocarcinoma of stomach, Malignant neoplasm of body of uterus, Adenocarcinoma of prostate,
Uterine Carcinosarcoma, ...see more
Pathogenic/Likely pathogenic
(Aug 1, 2018)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr12:133250289
GRCh38:
Chr12:132673703
POLEGlioblastoma, Neoplasm of the large intestine, Colorectal Neoplasms,
Adenocarcinoma of stomach, Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
85.
GRCh37:
Chr3:178921549
GRCh38:
Chr3:179203761
PIK3CANon-Hodgkin lymphoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Neoplasm of the breast, Glioblastoma, Neoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
86.
GRCh37:
Chr3:178921548
GRCh38:
Chr3:179203760
PIK3CANon-Hodgkin lymphoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
not provided, Neoplasm of the breast, Glioblastoma,
Neoplasm of the large intestine, Cowden syndrome, Colorectal Neoplasms,
Uterine cervical neoplasms, Malignant neoplasm of body of uterus ...see more
Pathogenic/Likely pathogenic
(Aug 18, 2017)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr3:178921549
GRCh38:
Chr3:179203761
PIK3CANon-Hodgkin lymphoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Neoplasm of the breast, Glioblastoma, Neoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
88.
GRCh37:
Chr3:178916725
GRCh38:
Chr3:179198937
PIK3CASquamous cell lung carcinoma, Glioblastoma, Neoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Adenocarcinoma of stomach,
Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
89.
GRCh37:
Chr3:178916726
GRCh38:
Chr3:179198938
PIK3CASquamous cell lung carcinoma, Glioblastoma, Neoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Adenocarcinoma of stomach,
Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
90.
GRCh37:
Chr3:178916725
GRCh38:
Chr3:179198937
PIK3CASquamous cell lung carcinoma, Glioblastoma, Neoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Adenocarcinoma of stomach,
Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
91.
GRCh37:
Chr3:178916725
GRCh38:
Chr3:179198937
PIK3CASquamous cell lung carcinoma, Glioblastoma, Neoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Adenocarcinoma of stomach,
Malignant neoplasm of body of uterus, Malignant Colorectal Neoplasm
Likely pathogenic
(Jul 11, 2016)
no assertion criteria provided
92.
GRCh37:
Chr3:178916726
GRCh38:
Chr3:179198938
PIK3CASquamous cell lung carcinoma, Glioblastoma, Neoplasm of the large intestine,
Colorectal Neoplasms, Uterine cervical neoplasms, Adenocarcinoma of stomach,
Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
93.
GRCh37:
Chr3:178936096
GRCh38:
Chr3:179218308
PIK3CAMedulloblastoma, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Neoplasm of brain, Neoplasm of the breast, Glioblastoma,
Transitional cell carcinoma of the bladder, Neoplasm of the large intestine, Colorectal Neoplasms,
Uterine cervical neoplasms, Adenocarcinoma of stomachMalignant neoplasm of body of uterus,
Adenocarcinoma of prostate, Uterine Carcinosarcoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
94.
GRCh37:
Chr3:178921551
GRCh38:
Chr3:179203763
PIK3CASquamous cell carcinoma of the head and neck, Lung adenocarcinoma, Neoplasm of the breast,
Glioblastoma, Neoplasm of the large intestine, Colorectal Neoplasms,
Adenoid cystic carcinoma, Adenocarcinoma of stomach, Malignant neoplasm of body of uterus,
Adenocarcinoma of prostate, Uterine Carcinosarcoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
95.
GRCh37:
Chr3:178921552
GRCh38:
Chr3:179203764
PIK3CASquamous cell carcinoma of the head and neck, Lung adenocarcinoma, Neoplasm of the breast,
Glioblastoma, Neoplasm of the large intestine, Colorectal Neoplasms,
Adenoid cystic carcinoma, Adenocarcinoma of stomach, Malignant neoplasm of body of uterus,
Adenocarcinoma of prostate, Uterine Carcinosarcoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
96.
GRCh37:
Chr3:178921552
GRCh38:
Chr3:179203764
PIK3CASquamous cell carcinoma of the head and neck, Lung adenocarcinoma, Neoplasm of the breast,
Glioblastoma, Neoplasm of the large intestine, Colorectal Neoplasms,
Adenoid cystic carcinoma, Adenocarcinoma of stomach, Malignant neoplasm of body of uterus,
Adenocarcinoma of prostate, Uterine Carcinosarcoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
97.
GRCh37:
Chr3:178952072
GRCh38:
Chr3:179234284
PIK3CASquamous cell carcinoma of the head and neck, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Colorectal Neoplasms, Neoplasm of the thyroid gland,
Adenoid cystic carcinoma, Adenocarcinoma of stomachMalignant neoplasm of body of uterus,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
98.
GRCh37:
Chr3:178952073
GRCh38:
Chr3:179234285
PIK3CASquamous cell carcinoma of the head and neck, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Colorectal Neoplasms, Neoplasm of the thyroid gland,
Adenoid cystic carcinoma, Adenocarcinoma of stomachMalignant neoplasm of body of uterus,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
99.
GRCh37:
Chr3:178952072
GRCh38:
Chr3:179234284
PIK3CASquamous cell carcinoma of the head and neck, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of the large intestine, Colorectal Neoplasms, Neoplasm of the thyroid gland,
Adenoid cystic carcinoma, Adenocarcinoma of stomachMalignant neoplasm of body of uterus,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
100.
GRCh37:
Chr3:178916945
GRCh38:
Chr3:179199157
PIK3CAMultiple myeloma, Neuroblastoma, Squamous cell carcinoma of the head and neck,
Lung adenocarcinoma, Neoplasm of brain, Neoplasm of the breast,
Glioblastoma, Neoplasm of the large intestine, Colorectal Neoplasms,
Uterine cervical neoplasms, Adenocarcinoma of stomachMalignant neoplasm of body of uterus,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
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