PDB ID 1GZH     CHAIN A
Protein name CELLULAR TUMOR ANTIGEN P53
Uniprot Accession P04637
The number of similar proteins 159
The number of binding states 10
The number of binding partners 8

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
1GZH (CHAIN: A)
1 Q12888  
2 Monomeric state
3 Q13625  
4 P04637  
5 Q9DH70  
6 4QO1  
7 Q07817  
8 P03126   P0AEX9  
9 P04637   P04637  
10 P04637   Q12888  

Downdload

Format:

Molecule viewer

#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   SSVPSQKTYQ   GSYGFRLGFL   HSGTAKSVTC   TYSPALNKMF   CQLAKTCPVQ   50
51   LWVDSTPPPG   TRVRAMAIYK   QSQHMTEVVR   RCPHHERCSD   SDGLAPPQHL   100
101   IRVEGNLRVE   YLDDRNTFRH   SVVVPYEPPE   VGSECTTIHY   NYMCNSSCMG   150
151   GMNRRPILTI   ITLEDSSGNL   LGRNSFEVRV   CACPGRDRRT   EEENLRKK   200

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
95_SER PHE VAR_044643 -
Unclassified - Sporadic cancers
95_SER THR VAR_044644 -
Unclassified - A sporadic cancer
96_SER CYS VAR_044645 -
Unclassified - A sporadic cancer
96_SER PHE VAR_044646 -
Unclassified - Sporadic cancers
96_SER PRO VAR_044647 -
Unclassified - A sporadic cancer
97_VAL ALA VAR_044648 -
Unclassified - A sporadic cancer
97_VAL PHE VAR_044649 -
Unclassified - A sporadic cancer
97_VAL ILE VAR_044650 rs730882023
Unclassified - Familial cancer not matching LFS
98_PRO LEU VAR_044651 rs1245723119
Unclassified - Sporadic cancers
98_PRO SER VAR_044652 -
Unclassified - Sporadic cancers
99_SER PHE VAR_044653 -
Unclassified - Sporadic cancers
99_SER PRO VAR_044654 -
Unclassified - A sporadic cancer
100_GLN ARG VAR_044655 -
Unclassified - A sporadic cancer
101_LYS ASN VAR_044656 rs878854069
Unclassified - A sporadic cancer
101_LYS ARG VAR_044657 -
Unclassified - Sporadic cancers
102_THR ILE VAR_044658 rs786202717
Unclassified - Sporadic cancers
104_GLN HIS VAR_044659 -
Unclassified - Sporadic cancers
104_GLN LEU VAR_044660 -
Unclassified - A sporadic cancer
104_GLN TER ClinVar
chr17:7579377
-
Pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
105_GLY CYS VAR_044661 -
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
105_GLY ASP VAR_044662 rs587781504
Unclassified - Sporadic cancers
105_GLY ARG VAR_044663 rs1060501195
Unclassified - Sporadic cancers
105_GLY SER VAR_044664 rs1060501195
Unclassified - A sporadic cancer
105_GLY VAL VAR_044665 -
Unclassified - Sporadic cancers
105_GLY SER ClinVar
chr17:7579374
rs1060501195
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
106_SER GLY VAR_044666 -
Unclassified - A sporadic cancer
106_SER ARG VAR_044667 -
Unclassified - A familial cancer not matching LFS
107_TYR CYS VAR_044668 rs587782447
Unclassified - A sporadic cancer
107_TYR ASP VAR_044669 -
Unclassified - Sporadic cancers
107_TYR HIS VAR_044670 rs368771578
Unclassified - A sporadic cancer
107_TYR TER ClinVar
chr17:7579366
rs770776262
Pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
108_GLY ASP VAR_044671 -
Unclassified - A sporadic cancer
108_GLY SER VAR_044672 rs587782461
Unclassified - Sporadic cancers
109_PHE CYS VAR_044673 -
Unclassified - Sporadic cancers
109_PHE LEU VAR_044674 -
Unclassified - A sporadic cancer
109_PHE SER VAR_044675 rs1064796722
Unclassified - Sporadic cancers
109_PHE VAL ClinVar
chr17:7579362
rs1057523496
Likely pathogenic - not provided [MedGen:CN517202]
110_ARG CYS VAR_005860 rs587781371
Unclassified - Sporadic cancers
110_ARG LEU VAR_005861 rs11540654
Unclassified - A familial cancer not matching LFS
110_ARG PRO VAR_005862 rs11540654
Unclassified - Sporadic cancers
110_ARG GLY VAR_044676 -
Unclassified - A sporadic cancer
110_ARG HIS VAR_044677 rs11540654
Unclassified - Sporadic cancers
110_ARG SER VAR_044678 rs587781371
Unclassified - A sporadic cancer
110_ARG PRO ClinVar
chr17:7579358
rs11540654
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
110_ARG LEU ClinVar
chr17:7579358
rs11540654
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
110_ARG HIS 4.7kJPN
chr17:7579358
rs11540654
- 0.0001 -
111_LEU MET VAR_044679 -
Unclassified - A sporadic cancer
111_LEU PRO VAR_044680 rs1057519997
Unclassified - Sporadic cancers
111_LEU GLN VAR_044681 rs1057519997
Unclassified - Sporadic cancers
111_LEU ARG VAR_044682 rs1057519997
Unclassified - Sporadic cancers
111_LEU ARG ClinVar
chr17:7579355
rs1057519997
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
111_LEU GLN ClinVar
chr17:7579355
rs1057519997
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
112_GLY ASP VAR_044683 -
Unclassified - Sporadic cancers
112_GLY SER VAR_044684 rs1423803759
Unclassified - Sporadic cancers
113_PHE CYS VAR_005863 -
Unclassified - Sporadic cancers
113_PHE VAL VAR_033033 rs587781642
Unclassified - Sporadic cancers
113_PHE ILE VAR_044685 -
Unclassified - A sporadic cancer
113_PHE LEU VAR_044686 -
Unclassified - Sporadic cancers
113_PHE SER VAR_044687 -
Unclassified - Sporadic cancers
113_PHE GLY VAR_045788 -
Unclassified - A sporadic cancer
115_HIS TYR VAR_044688 -
Unclassified - Sporadic cancers
116_SER CYS VAR_044689 -
Unclassified - Sporadic cancers
116_SER PHE VAR_044690 -
Unclassified - A sporadic cancer
116_SER PRO VAR_044691 -
Unclassified - A sporadic cancer
117_GLY GLU VAR_044692 rs755238756
Unclassified - Sporadic cancers
117_GLY ARG VAR_044693 -
Unclassified - Sporadic cancers
118_THR ALA VAR_044694 -
Unclassified - A sporadic cancer
118_THR ILE VAR_044695 rs1064794141
Unclassified - Sporadic cancers
118_THR ARG VAR_044696 -
Unclassified - A sporadic cancer
119_ALA ASP VAR_044697 -
Unclassified - A sporadic cancer
119_ALA THR VAR_044698 -
Unclassified - A sporadic cancer
120_LYS GLU VAR_044699 rs121912658
Unclassified - Sporadic cancers
120_LYS MET VAR_044700 -
Unclassified - Sporadic cancers
120_LYS GLN VAR_044701 rs121912658
Unclassified - A sporadic cancer
120_LYS ARG VAR_044702 -
Unclassified - Sporadic cancers
120_LYS TER ClinVar
chr17:7579329
rs121912658
Pathogenic - Li-Fraumeni-like syndrome [MedGen:C2675080]
121_SER PHE VAR_044703 -
Unclassified - Sporadic cancers
122_VAL LEU VAR_044704 -
Unclassified - A sporadic cancer
123_THR ILE VAR_044705 -
Unclassified - A sporadic cancer
123_THR ASN VAR_044706 -
Unclassified - A sporadic cancer
124_CYS GLY VAR_044707 rs730881997
Unclassified - A sporadic cancer
124_CYS ARG VAR_044708 -
Unclassified - Sporadic cancers
124_CYS SER VAR_044709 rs730881997
Unclassified - Sporadic cancers
124_CYS TRP VAR_044710 -
Unclassified - A sporadic cancer
124_CYS TYR VAR_044711 -
Unclassified - A sporadic cancer
124_CYS TER ClinVar
chr17:7579315
rs1555526478
Pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
125_THR MET VAR_005864 rs786201057
Unclassified - Sporadic cancers
125_THR ALA VAR_044712 -
Unclassified - A sporadic cancer
125_THR LYS VAR_044713 rs786201057
Unclassified - Sporadic cancers
125_THR PRO VAR_044714 rs1057520003
Unclassified - A sporadic cancer
125_THR ARG VAR_044715 rs786201057
Unclassified - Sporadic cancers
125_THR PRO ClinVar
chr17:7579314
rs1057520003
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
126_TYR ASP VAR_005865 rs886039483
Unclassified - Sporadic cancers
126_TYR ASN VAR_005866 rs886039483
Unclassified - Sporadic cancers
126_TYR CYS VAR_044716 -
Unclassified - A familial cancer not matching LFS
126_TYR PHE VAR_044717 -
Unclassified - A sporadic cancer
126_TYR HIS VAR_044718 -
Unclassified - Sporadic cancers
126_TYR SER VAR_044719 -
Unclassified - Sporadic cancers
126_TYR GLY VAR_045789 -
Unclassified - A sporadic cancer
126_TYR TER ClinVar
chr17:7578552
-
Likely pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
127_SER PHE VAR_005867 rs730881999
Unclassified - Sporadic cancers
127_SER CYS VAR_044720 rs730881999
Unclassified - A sporadic cancer
127_SER PRO VAR_044721 -
Unclassified - Sporadic cancers
127_SER THR VAR_044722 -
Unclassified - Sporadic cancers
127_SER TYR VAR_044723 -
Unclassified - Sporadic cancers
128_PRO SER VAR_005868 -
Unclassified - Sporadic cancers
128_PRO ALA VAR_044724 -
Unclassified - Sporadic cancers
128_PRO LEU VAR_044725 -
Unclassified - Sporadic cancers
128_PRO ARG VAR_044726 -
Unclassified - Sporadic cancers
129_ALA ASP VAR_005869 -
Unclassified - Sporadic cancers
129_ALA GLY VAR_044727 -
Unclassified - A sporadic cancer
129_ALA THR VAR_044728 rs1438095083
Unclassified - Sporadic cancers
129_ALA VAL VAR_044729 rs137852792
Unclassified - Sporadic cancers
130_LEU ARG VAR_005870 -
Unclassified - Sporadic cancers
130_LEU PHE VAR_044730 rs863224683
Unclassified - Sporadic cancers
130_LEU HIS VAR_044731 -
Unclassified - Sporadic cancers
130_LEU ILE VAR_044732 -
Unclassified - A sporadic cancer
130_LEU PRO VAR_044733 rs1131691013
Unclassified - Sporadic cancers
130_LEU VAL VAR_044734 rs863224683
Unclassified - Sporadic cancers
130_LEU PRO ClinVar
chr17:7578541
rs1131691013
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
131_ASN SER VAR_005871 -
Unclassified - Sporadic cancers
131_ASN LYS VAR_005872 rs769270327
Unclassified - Sporadic cancers
131_ASN ASP VAR_044735 -
Unclassified - A sporadic cancer
131_ASN HIS VAR_044736 -
Unclassified - Sporadic cancers
131_ASN ILE VAR_044737 rs1131691037
Unclassified - Sporadic cancers
131_ASN THR VAR_044738 -
Unclassified - A sporadic cancer
131_ASN TYR VAR_044739 rs587782160
Unclassified - Sporadic cancers
131_ASN TYR ClinVar
chr17:7578539
rs587782160
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
131_ASN ILE ClinVar
chr17:7578538
rs1131691037
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
132_LYS MET VAR_005873 rs1057519996
Unclassified - Sporadic cancers
132_LYS GLN VAR_005874 rs747342068
Unclassified - Sporadic cancers
132_LYS GLU VAR_044740 rs747342068
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
132_LYS ASN VAR_044741 rs866775781
Unclassified - Sporadic cancers
132_LYS ARG VAR_044742 rs1057519996
Unclassified - Sporadic cancers
132_LYS THR VAR_044743 rs1057519996
Unclassified - Sporadic cancers
132_LYS LEU VAR_045790 -
Unclassified - A sporadic cancer
132_LYS TRP VAR_045791 -
Unclassified - A sporadic cancer
132_LYS ASN ClinVar
chr17:7578534
rs866775781
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
132_LYS THR ClinVar
chr17:7578535
rs1057519996
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
132_LYS GLN ClinVar
chr17:7578536
rs747342068
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
133_MET THR VAR_005875 rs28934873
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
133_MET ILE VAR_044744 rs1064795139
Unclassified - Sporadic cancers
133_MET LYS VAR_044745 -
Unclassified - Sporadic cancers
133_MET LEU VAR_044746 -
Unclassified - Sporadic cancers
133_MET ARG VAR_044747 -
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
133_MET VAL VAR_044748 rs1057280220
Unclassified - Sporadic cancers
133_MET THR ClinVar
chr17:7578532
rs28934873
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]
134_PHE LEU VAR_036504 rs267605077
Unclassified - Sporadic cancers
134_PHE CYS VAR_044749 rs780442292
Unclassified - Sporadic cancers
134_PHE ILE VAR_044750 -
Unclassified - Sporadic cancers
134_PHE SER VAR_044751 -
Unclassified - Sporadic cancers
134_PHE VAL VAR_044752 -
Unclassified - Sporadic cancers
134_PHE CYS ClinVar
chr17:7578529
rs780442292
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; not provided [MedGen:CN517202]
135_CYS SER VAR_005876 rs1057519975
Unclassified - Sporadic cancers
135_CYS PHE VAR_005877 rs587781991
Unclassified - Sporadic cancers
135_CYS GLY VAR_044753 rs1057519975
Unclassified - Sporadic cancers
135_CYS ARG VAR_044754 rs1057519975
Unclassified - Sporadic cancers
135_CYS TRP VAR_044755 rs1057519976
Unclassified - Sporadic cancers
135_CYS TYR VAR_044756 rs587781991
Unclassified - Sporadic cancers
135_CYS THR VAR_045792 -
Unclassified - A sporadic cancer
135_CYS TYR ClinVar
chr17:7578526
rs587781991
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
135_CYS PHE ClinVar
chr17:7578526
rs587781991
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
135_CYS ARG ClinVar
chr17:7578527
rs1057519975
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
135_CYS SER ClinVar
chr17:7578527
rs1057519975
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
136_GLN GLU VAR_005878 -
Unclassified - Sporadic cancers
136_GLN LYS VAR_005879 -
Unclassified - A sporadic cancer
136_GLN HIS VAR_044757 rs758781593
Unclassified - Sporadic cancers
136_GLN PRO VAR_044758 -
Unclassified - Sporadic cancers
136_GLN ARG VAR_044759 -
Unclassified - Sporadic cancers
137_LEU GLN VAR_005880 -
Unclassified - Sporadic cancers
137_LEU MET VAR_044760 -
Unclassified - Sporadic cancers
137_LEU PRO VAR_044761 -
Unclassified - Sporadic cancers
137_LEU VAL VAR_044762 -
Unclassified - Sporadic cancers
138_ALA PRO VAR_005881 rs28934875
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
138_ALA VAL VAR_033034 rs750600586
Unclassified - Sporadic cancers
138_ALA ASP VAR_044763 -
Unclassified - Sporadic cancers
138_ALA SER VAR_044764 -
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
138_ALA THR VAR_044765 -
Unclassified - Sporadic cancers
138_ALA PRO ClinVar
chr17:7578518
rs28934875
Likely pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]
139_LYS ASN VAR_005882 -
Unclassified - Sporadic cancers
139_LYS GLU VAR_044766 rs1212996409
Unclassified - Sporadic cancers
139_LYS GLN VAR_044767 -
Unclassified - Sporadic cancers
139_LYS ARG VAR_044768 -
Unclassified - Sporadic cancers
139_LYS THR VAR_044769 -
Unclassified - Sporadic cancers
140_THR ALA VAR_044770 -
Unclassified - Sporadic cancers
140_THR ILE VAR_044771 -
Unclassified - Sporadic cancers
140_THR ASN VAR_044772 rs786202561
Unclassified - A sporadic cancer
140_THR PRO VAR_044773 -
Unclassified - A sporadic cancer
140_THR SER VAR_044774 -
Unclassified - Sporadic cancers
141_CYS GLY VAR_005884 rs1057519978
Unclassified - Sporadic cancers
141_CYS PHE VAR_005885 rs587781288
Unclassified - Sporadic cancers
141_CYS TYR VAR_005886 rs587781288
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
141_CYS ARG VAR_044775 rs1057519978
Unclassified - Sporadic cancers
141_CYS SER VAR_044776 rs1057519978
Unclassified - Sporadic cancers
141_CYS TRP VAR_044777 rs1057519977
Unclassified - Sporadic cancers
141_CYS ALA VAR_045793 -
Unclassified - A sporadic cancer
141_CYS TYR ClinVar
chr17:7578508
rs587781288
Pathogenic/Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS ARG ClinVar
chr17:7578509
rs1057519978
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS GLY ClinVar
chr17:7578509
rs1057519978
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS SER ClinVar
chr17:7578509
rs1057519978
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
141_CYS PHE ClinVar
chr17:7578508
rs587781288
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
142_PRO ALA VAR_044778 -
Unclassified - Sporadic cancers
142_PRO HIS VAR_044779 -
Unclassified - Sporadic cancers
142_PRO LEU VAR_044780 rs779196500
Unclassified - Sporadic cancers
142_PRO ARG VAR_044781 -
Unclassified - A sporadic cancer
142_PRO SER VAR_044782 -
Unclassified - Sporadic cancers
142_PRO THR VAR_044783 -
Unclassified - Sporadic cancers
142_PRO PHE VAR_045794 -
Unclassified - Sporadic cancers
143_VAL ALA VAR_005887 -
Unclassified - Sporadic cancers
143_VAL GLU VAR_044784 -
Unclassified - Sporadic cancers
143_VAL GLY VAR_044785 -
Unclassified - Sporadic cancers
143_VAL LEU VAR_044786 rs587782620
Unclassified - Sporadic cancers
143_VAL MET VAR_044787 rs587782620
Unclassified - Sporadic cancers
144_GLN PRO VAR_005888 rs786203071
Unclassified - Sporadic cancers
144_GLN HIS VAR_044788 rs786201419
Unclassified - Sporadic cancers
144_GLN LYS VAR_044789 -
Unclassified - Sporadic cancers
144_GLN LEU VAR_044790 rs786203071
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
144_GLN ARG VAR_044791 -
Unclassified - Sporadic cancers
144_GLN LEU ClinVar
chr17:7578499
rs786203071
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
144_GLN HIS ClinVar
chr17:7578498
rs786201419
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
145_LEU PRO VAR_005889 rs587782197
Unclassified - Sporadic cancers
145_LEU GLN VAR_005890 -
Unclassified - Sporadic cancers
145_LEU MET VAR_044792 -
Unclassified - Sporadic cancers
145_LEU ARG VAR_044793 -
Unclassified - Sporadic cancers
145_LEU VAL VAR_044794 -
Unclassified - Sporadic cancers
146_TRP CYS VAR_044795 -
Unclassified - A sporadic cancer
146_TRP GLY VAR_044796 rs786203064
Unclassified - Sporadic cancers
146_TRP LEU VAR_044797 -
Unclassified - Sporadic cancers
146_TRP ARG VAR_044798 -
Unclassified - Sporadic cancers
146_TRP SER VAR_044799 -
Unclassified - Sporadic cancers
146_TRP TER ClinVar
chr17:7578492
rs1131691026
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
147_VAL ASP VAR_005891 -
Unclassified - Sporadic cancers
147_VAL GLY VAR_005892 rs1453167097
Unclassified - Sporadic cancers
147_VAL ALA VAR_044800 -
Unclassified - Sporadic cancers
147_VAL GLU VAR_044801 -
Unclassified - Sporadic cancers
147_VAL PHE VAR_044802 -
Unclassified - A sporadic cancer
147_VAL ILE VAR_044803 -
Unclassified - Sporadic cancers
148_ASP ALA VAR_044804 rs1046611742
Unclassified - A sporadic cancer
148_ASP GLU VAR_044805 -
Unclassified - Sporadic cancers
148_ASP GLY VAR_044806 -
Unclassified - A sporadic cancer
148_ASP ASN VAR_044807 -
Unclassified - Sporadic cancers
148_ASP VAL VAR_044808 -
Unclassified - Sporadic cancers
148_ASP TYR VAR_044809 rs1131691007
Unclassified - Sporadic cancers
149_SER PRO VAR_005893 -
Unclassified - Sporadic cancers
149_SER PHE VAR_044810 -
Unclassified - Sporadic cancers
149_SER THR VAR_044811 -
Unclassified - Sporadic cancers
150_THR ALA VAR_044812 -
Unclassified - A sporadic cancer
150_THR ILE VAR_044813 -
Unclassified - Sporadic cancers
150_THR LYS VAR_044814 -
Unclassified - Sporadic cancers
150_THR ASN VAR_044815 -
Unclassified - A sporadic cancer
150_THR PRO VAR_044816 -
Unclassified - A sporadic cancer
150_THR ARG VAR_044817 -
Unclassified - A sporadic cancer
151_PRO ALA VAR_005894 rs28934874
Unclassified - Sporadic cancers
151_PRO SER VAR_005895 rs28934874
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
151_PRO THR VAR_005896 rs28934874
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
151_PRO HIS VAR_044818 rs1057520000
Unclassified - Sporadic cancers
151_PRO LEU VAR_044819 -
Unclassified - Sporadic cancers
151_PRO ARG VAR_044820 rs1057520000
Unclassified - Sporadic cancers
151_PRO THR ClinVar
chr17:7578479
rs28934874
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Breast adenocarcinoma [MedGen:C0858252,Orphanet:ORPHA213528]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
151_PRO SER ClinVar
chr17:7578479
rs28934874
Pathogenic/Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Breast adenocarcinoma [MedGen:C0858252,Orphanet:ORPHA213528]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
152_PRO LEU VAR_005897 rs587782705
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
152_PRO SER VAR_005898 rs767328513
Unclassified - Sporadic cancers
152_PRO ALA VAR_044821 -
Unclassified - Sporadic cancers
152_PRO GLN VAR_044822 -
Unclassified - Sporadic cancers
152_PRO ARG VAR_044823 -
Unclassified - Sporadic cancers
152_PRO THR VAR_044824 -
Unclassified - Sporadic cancers
152_PRO LEU ClinVar
chr17:7578475
rs587782705
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
153_PRO THR VAR_005899 -
Unclassified - Sporadic cancers
153_PRO ALA VAR_044825 -
Unclassified - Sporadic cancers
153_PRO HIS VAR_044826 -
Unclassified - A sporadic cancer
153_PRO LEU VAR_044827 -
Unclassified - Sporadic cancers
153_PRO ARG VAR_044828 -
Unclassified - A sporadic cancer
153_PRO SER VAR_044829 rs1064795860
Unclassified - Sporadic cancers
153_PRO PHE VAR_045795 -
Unclassified - A sporadic cancer
154_GLY VAL VAR_005900 rs762846821
Unclassified - A brain tumor with no family history
154_GLY ALA VAR_044830 -
Unclassified - Sporadic cancers
154_GLY CYS VAR_044831 -
Unclassified - A sporadic cancer
154_GLY ASP VAR_044832 rs762846821
Unclassified - Sporadic cancers
154_GLY SER VAR_044833 rs137852789
Unclassified - Sporadic cancers
154_GLY ILE VAR_045796 -
Unclassified - Sporadic cancers
155_THR ALA VAR_005901 rs772683278
Unclassified - Sporadic cancers
155_THR ILE VAR_044834 -
Unclassified - Sporadic cancers
155_THR MET VAR_044835 -
Unclassified - A sporadic cancer
155_THR ASN VAR_044836 rs786202752
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
155_THR PRO VAR_044837 -
Unclassified - Sporadic cancers
155_THR SER VAR_044838 rs786202752
Unclassified - Sporadic cancers
156_ARG PRO VAR_005902 -
Unclassified - Sporadic cancers
156_ARG CYS VAR_044839 rs563378859
Unclassified - Sporadic cancers
156_ARG GLY VAR_044840 -
Unclassified - Sporadic cancers
156_ARG HIS VAR_044841 rs371524413
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
156_ARG LEU VAR_044842 -
Unclassified - Sporadic cancers
156_ARG SER VAR_044843 -
Unclassified - Sporadic cancers
157_VAL ASP VAR_005903 -
Unclassified - Sporadic cancers
157_VAL PHE VAR_005904 rs121912654
Unclassified - Sporadic cancers
157_VAL ILE VAR_012977 rs121912654
Unclassified - Sporadic cancers
157_VAL ALA VAR_044844 rs1131691023
Unclassified - Sporadic cancers
157_VAL GLY VAR_044845 -
Unclassified - Sporadic cancers
157_VAL LEU VAR_044846 -
Unclassified - Sporadic cancers
157_VAL PHE ClinVar
chr17:7578461
rs121912654
Likely pathogenic - Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
157_VAL ALA ClinVar
chr17:7578460
rs1131691023
Likely pathogenic - Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
157_VAL ASP ClinVar
chr17:7578460
rs1131691023
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
158_ARG CYS VAR_005905 rs587780068
Unclassified - Sporadic cancers
158_ARG GLY VAR_005906 -
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
158_ARG HIS VAR_005907 rs587782144
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
158_ARG LEU VAR_044847 -
Unclassified - Sporadic cancers
158_ARG PRO VAR_044848 rs587782144
Unclassified - Sporadic cancers
158_ARG GLN VAR_044849 -
Unclassified - A sporadic cancer
158_ARG SER VAR_044850 -
Unclassified - Sporadic cancers
158_ARG PHE VAR_045797 -
Unclassified - A sporadic cancer
158_ARG TYR VAR_045798 -
Unclassified - A sporadic cancer
158_ARG HIS ClinVar
chr17:7578457
rs587782144
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
158_ARG LEU ClinVar
chr17:7578457
rs587782144
Pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
159_ALA ASP VAR_044851 -
Unclassified - Sporadic cancers
159_ALA GLY VAR_044852 -
Unclassified - Sporadic cancers
159_ALA PRO VAR_044853 rs730882000
Unclassified - Sporadic cancers
159_ALA SER VAR_044854 -
Unclassified - Sporadic cancers
159_ALA THR VAR_044855 rs730882000
Unclassified - Sporadic cancers
159_ALA VAL VAR_044856 -
Unclassified - Sporadic cancers
159_ALA PHE VAR_045799 rs730882022
Unclassified - A sporadic cancer
160_MET ILE VAR_005908 rs772354334
Unclassified - Sporadic cancers
160_MET LYS VAR_044857 -
Unclassified - Sporadic cancers
160_MET THR VAR_044858 -
Unclassified - A sporadic cancer
160_MET VAL VAR_044859 rs377274728
Unclassified - Sporadic cancers
161_ALA SER VAR_005909 -
Unclassified - Sporadic cancers
161_ALA ASP VAR_044860 rs1064795691
Unclassified - Sporadic cancers
161_ALA GLY VAR_044861 -
Unclassified - Sporadic cancers
161_ALA PRO VAR_044862 -
Unclassified - Sporadic cancers
161_ALA THR VAR_044863 rs193920817
Unclassified - Sporadic cancers
161_ALA VAL VAR_044864 -
Unclassified - Sporadic cancers
161_ALA PHE VAR_045800 -
Unclassified - A sporadic cancer
162_ILE SER VAR_005910 rs587780069
Unclassified - Sporadic cancers
162_ILE VAL VAR_005911 -
Unclassified - Sporadic cancers
162_ILE PHE VAR_044865 -
Unclassified - Sporadic cancers
162_ILE MET VAR_044866 -
Unclassified - Sporadic cancers
162_ILE ASN VAR_044867 -
Unclassified - A breast cancer with no family history
162_ILE THR VAR_044868 -
Unclassified - Sporadic cancers
163_TYR HIS VAR_005912 rs786203436
Unclassified - Sporadic cancers
163_TYR CYS VAR_033035 rs148924904
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
163_TYR ASP VAR_044869 rs786203436
Unclassified - Sporadic cancers
163_TYR PHE VAR_044870 -
Unclassified - A sporadic cancer
163_TYR ASN VAR_044871 rs786203436
Unclassified - Sporadic cancers
163_TYR SER VAR_044872 -
Unclassified - Sporadic cancers
163_TYR CYS ClinVar
chr17:7578442
rs148924904
Pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
163_TYR ASP ClinVar
chr17:7578443
rs786203436
Likely pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
163_TYR HIS ClinVar
chr17:7578443
rs786203436
Likely pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
164_LYS ASN VAR_005913 rs1131691034
Unclassified - Sporadic cancers
164_LYS GLN VAR_005914 -
Unclassified - Sporadic cancers
164_LYS GLU VAR_044873 rs879254249
Unclassified - Sporadic cancers
164_LYS MET VAR_044874 -
Unclassified - Sporadic cancers
164_LYS ARG VAR_044875 -
Unclassified - Sporadic cancers
164_LYS THR VAR_044876 -
Unclassified - Sporadic cancers
165_GLN LEU VAR_005915 -
Unclassified - Sporadic cancers
165_GLN ARG VAR_005916 -
Unclassified - Sporadic cancers
165_GLN GLU VAR_044877 -
Unclassified - Sporadic cancers
165_GLN HIS VAR_044878 -
Unclassified - A sporadic cancer
165_GLN PRO VAR_044879 -
Unclassified - Sporadic cancers
165_GLN TER ClinVar
chr17:7578437
rs730882001
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]
166_SER LEU VAR_005917 -
Unclassified - Sporadic cancers
166_SER ALA VAR_044880 -
Unclassified - Sporadic cancers
166_SER GLY VAR_044881 -
Unclassified - A sporadic cancer
166_SER PRO VAR_044882 -
Unclassified - Sporadic cancers
166_SER THR VAR_044883 -
Unclassified - Sporadic cancers
167_GLN HIS VAR_044884 -
Unclassified - Sporadic cancers
167_GLN LYS VAR_044885 -
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
167_GLN LEU VAR_044886 -
Unclassified - Sporadic cancers
167_GLN ARG VAR_044887 -
Unclassified - Sporadic cancers
167_GLN TER ClinVar
chr17:7578431
rs1555526097
Pathogenic/Likely pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
168_HIS ARG VAR_005918 rs867114783
Unclassified - Sporadic cancers
168_HIS ASP VAR_044888 -
Unclassified - Sporadic cancers
168_HIS LEU VAR_044889 -
Unclassified - Sporadic cancers
168_HIS ASN VAR_044890 -
Unclassified - Sporadic cancers
168_HIS PRO VAR_044891 -
Unclassified - Sporadic cancers
168_HIS GLN VAR_044892 -
Unclassified - Sporadic cancers
168_HIS TYR VAR_044893 -
Unclassified - Sporadic cancers
168_HIS VAL VAR_045801 -
Unclassified - A sporadic cancer
169_MET ILE VAR_005919 -
Unclassified - Sporadic cancers
169_MET THR VAR_005920 -
Unclassified - Sporadic cancers
169_MET LYS VAR_044894 -
Unclassified - Sporadic cancers
169_MET VAL VAR_044895 -
Unclassified - Sporadic cancers
170_THR MET VAR_005921 rs779000871
Unclassified - Sporadic cancers
170_THR SER VAR_005922 -
Unclassified - Sporadic cancers
170_THR ALA VAR_044896 rs587780729
Unclassified - Sporadic cancers
170_THR LYS VAR_044897 -
Unclassified - A sporadic cancer
170_THR PRO VAR_044898 -
Unclassified - A sporadic cancer
171_GLU ALA VAR_044899 -
Unclassified - A sporadic cancer
171_GLU ASP VAR_044900 -
Unclassified - Sporadic cancers
171_GLU GLY VAR_044901 -
Unclassified - Sporadic cancers
171_GLU LYS VAR_044902 rs587781845
Unclassified - Sporadic cancers
171_GLU GLN VAR_044903 -
Unclassified - A sporadic cancer
171_GLU VAL VAR_044904 -
Unclassified - Sporadic cancers
172_VAL ALA VAR_005923 -
Unclassified - Sporadic cancers
172_VAL ASP VAR_044905 -
Unclassified - Sporadic cancers
172_VAL PHE VAR_044906 rs1131691043
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
172_VAL GLY VAR_044907 rs1131691021
Unclassified - Sporadic cancers
172_VAL ILE VAR_044908 -
Unclassified - Sporadic cancers
172_VAL PHE ClinVar
chr17:7578416
rs1131691043
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
172_VAL ILE 4.7kJPN
chr17:7578416
-
- 0.0001 -
173_VAL GLU VAR_005924 rs1057519747
Unclassified - Sporadic cancers
173_VAL LEU VAR_005925 rs876660754
Unclassified - Sporadic cancers
173_VAL MET VAR_005926 rs876660754
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
173_VAL ALA VAR_044909 rs1057519747
Unclassified - Sporadic cancers
173_VAL GLY VAR_044910 rs1057519747
Unclassified - Sporadic cancers
173_VAL TRP VAR_045802 -
Unclassified - A sporadic cancer
173_VAL MET ClinVar
chr17:7578413
rs876660754
Pathogenic/Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; not provided [MedGen:CN517202]
173_VAL GLY ClinVar
chr17:7578412
rs1057519747
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
173_VAL ALA ClinVar
chr17:7578412
rs1057519747
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
173_VAL LEU ClinVar
chr17:7578413
rs876660754
Pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]
173_VAL GLU ClinVar
chr17:7578412
rs1057519747
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; not specified [MedGen:CN169374]
174_ARG LYS VAR_005927 rs1064796681
Unclassified - Sporadic cancers
174_ARG GLY VAR_044911 rs864622115
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
174_ARG MET VAR_044912 -
Unclassified - Sporadic cancers
174_ARG SER VAR_044913 -
Unclassified - Sporadic cancers
174_ARG THR VAR_044914 -
Unclassified - A sporadic cancer
174_ARG TRP VAR_044915 -
Unclassified - Sporadic cancers
175_ARG CYS VAR_005928 rs138729528
Unclassified - Sporadic cancers
175_ARG GLY VAR_005929 rs138729528
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
175_ARG LEU VAR_005930 rs28934578
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
175_ARG PRO VAR_005931 -
Unclassified - Sporadic cancers
175_ARG HIS VAR_005932 rs28934578
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
175_ARG GLN VAR_044916 -
Unclassified - A sporadic cancer
175_ARG SER VAR_044917 -
Unclassified - Sporadic cancers
175_ARG HIS ClinVar
chr17:7578406
rs28934578
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Malignant tumor of esophagus [MedGen:C0546837,OMIM:133239,SNOMED CT:363402007]; Neoplasm [Human Phenotype Ontology:HP:0002664,MeSH:D009369,MedGen:C0027651,SNOMED CT:108369006]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; not provided [MedGen:CN517202]
175_ARG LEU ClinVar
chr17:7578406
rs28934578
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
175_ARG GLY ClinVar
chr17:7578407
rs138729528
Pathogenic/Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Medulloblastoma [Human Phenotype Ontology:HP:0002885,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:ORPHA616]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
175_ARG CYS 4.7kJPN
chr17:7578407
rs138729528
- 0.0001 -
176_CYS PHE VAR_005933 rs786202962
Unclassified - Sporadic cancers
176_CYS TRP VAR_005934 rs1057519980
Unclassified - Sporadic cancers
176_CYS GLY VAR_044918 -
Unclassified - Sporadic cancers
176_CYS ARG VAR_044919 -
Unclassified - Sporadic cancers
176_CYS SER VAR_044920 rs967461896
Unclassified - Sporadic cancers
176_CYS TYR VAR_044921 rs786202962
Unclassified - Sporadic cancers
176_CYS PHE ClinVar
chr17:7578403
rs786202962
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
176_CYS GLY ClinVar
chr17:7578404
rs967461896
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
176_CYS ARG ClinVar
chr17:7578404
rs967461896
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
177_PRO LEU VAR_005935 rs751477326
Unclassified - Sporadic cancers
177_PRO ARG VAR_036505 rs751477326
Unclassified - Sporadic cancers
177_PRO ALA VAR_044922 -
Unclassified - A sporadic cancer
177_PRO HIS VAR_044923 -
Unclassified - Sporadic cancers
177_PRO SER VAR_044924 rs147002414
Unclassified - Sporadic cancers
177_PRO THR VAR_044925 -
Unclassified - A sporadic cancer
177_PRO PHE VAR_045803 -
Unclassified - Sporadic cancers
177_PRO ILE VAR_045804 -
Unclassified - A sporadic cancer
178_HIS ASP VAR_044926 -
Unclassified - Sporadic cancers
178_HIS LEU VAR_044927 -
Unclassified - A sporadic cancer
178_HIS ASN VAR_044928 rs1064795203
Unclassified - Sporadic cancers
178_HIS PRO VAR_044929 -
Unclassified - Sporadic cancers
178_HIS GLN VAR_044930 -
Unclassified - Sporadic cancers
178_HIS ARG VAR_044931 -
Unclassified - Sporadic cancers
178_HIS TYR VAR_044932 -
Unclassified - Sporadic cancers
178_HIS PRO ClinVar
chr17:7578397
rs1555526004
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
178_HIS ASP ClinVar
chr17:7578398
rs1064795203
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
179_HIS ASP VAR_044933 rs587780070
Unclassified - Sporadic cancers
179_HIS LEU VAR_044934 rs1057519991
Unclassified - Sporadic cancers
179_HIS ASN VAR_044935 rs587780070
Unclassified - Sporadic cancers
179_HIS PRO VAR_044936 rs1057519991
Unclassified - Sporadic cancers
179_HIS GLN VAR_044937 rs876660821
Unclassified - Sporadic cancers
179_HIS ARG VAR_044938 rs1057519991
Unclassified - Sporadic cancers
179_HIS TYR VAR_044939 rs587780070
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
179_HIS TYR ClinVar
chr17:7578395
rs587780070
Pathogenic/Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
179_HIS GLN ClinVar
chr17:7578393
rs876660821
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
179_HIS ASP ClinVar
chr17:7578395
rs587780070
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
179_HIS PRO ClinVar
chr17:7578394
rs1057519991
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
179_HIS GLN ClinVar
chr17:7578393
rs876660821
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
180_GLU ALA VAR_044940 -
Unclassified - A sporadic cancer
180_GLU ASP VAR_044941 -
Unclassified - Sporadic cancers
180_GLU GLY VAR_044942 -
Unclassified - A sporadic cancer
180_GLU LYS VAR_044943 rs879253911
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
180_GLU GLN VAR_044944 -
Unclassified - Sporadic cancers
180_GLU VAL VAR_044945 -
Unclassified - A sporadic cancer
180_GLU LYS ClinVar
chr17:7578392
rs879253911
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]
181_ARG LEU VAR_005937 rs397514495
Unclassified - A familial cancer not matching LFS
181_ARG CYS VAR_044946 rs587782596
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
181_ARG GLY VAR_044947 -
Unclassified - Sporadic cancers
181_ARG HIS VAR_044948 rs397514495
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
181_ARG PRO VAR_044949 -
Unclassified - A familial cancer not matching LFS
181_ARG SER VAR_044950 rs587782596
Unclassified - Sporadic cancers
181_ARG HIS ClinVar
chr17:7578388
rs397514495
Pathogenic/Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
182_CYS SER VAR_005938 -
Unclassified - Sporadic cancers
182_CYS ARG VAR_044951 -
Unclassified - Sporadic cancers
182_CYS TYR VAR_044952 -
Unclassified - Sporadic cancers
189_ALA PRO VAR_005943 -
Unclassified - Sporadic cancers
189_ALA ASP VAR_044974 -
Unclassified - A sporadic cancer
189_ALA GLY VAR_044975 -
Unclassified - Sporadic cancers
189_ALA SER VAR_044976 -
Unclassified - A sporadic cancer
189_ALA THR VAR_044977 -
Unclassified - Sporadic cancers
189_ALA VAL VAR_044978 rs121912665
Unclassified - A familial cancer not matching LFS
189_ALA VAL 4.7kJPN
chr17:7578283
rs121912665
- 0.0019 -
190_PRO LEU VAR_005944 rs876660825
Unclassified - Sporadic cancers
190_PRO ALA VAR_044979 -
Unclassified - Sporadic cancers
190_PRO HIS VAR_044980 -
Unclassified - A sporadic cancer
190_PRO ARG VAR_044981 rs876660825
Unclassified - Sporadic cancers
190_PRO SER VAR_044982 -
Unclassified - Sporadic cancers
190_PRO THR VAR_044983 rs876660254
Unclassified - Sporadic cancers
191_PRO THR VAR_005945 -
Unclassified - Sporadic cancers
191_PRO HIS VAR_044984 rs587778718
Unclassified - Sporadic cancers
191_PRO LEU VAR_044985 rs587778718
Unclassified - Sporadic cancers
191_PRO ARG VAR_044986 rs587778718
Unclassified - Sporadic cancers
191_PRO SER VAR_044987 rs868590738
Unclassified - Sporadic cancers
192_GLN ARG VAR_005946 rs730882002
Unclassified - Sporadic cancers
192_GLN HIS VAR_044988 -
Unclassified - Sporadic cancers
192_GLN LYS VAR_044989 -
Unclassified - A sporadic cancer
192_GLN LEU VAR_044990 -
Unclassified - Sporadic cancers
192_GLN PRO VAR_044991 -
Unclassified - Sporadic cancers
192_GLN TER ClinVar
chr17:7578275
rs866380588
Pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
193_HIS ASP VAR_005947 rs876658468
Unclassified - Sporadic cancers
193_HIS ARG VAR_005948 rs786201838
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
193_HIS LEU VAR_044992 rs786201838
Unclassified - Sporadic cancers
193_HIS ASN VAR_044993 rs876658468
Unclassified - Sporadic cancers
193_HIS PRO VAR_044994 rs786201838
Unclassified - Sporadic cancers
193_HIS GLN VAR_044995 -
Unclassified - Sporadic cancers
193_HIS TYR VAR_044996 rs876658468
Unclassified - Sporadic cancers
193_HIS ARG ClinVar
chr17:7578271
rs786201838
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
193_HIS TYR ClinVar
chr17:7578272
rs876658468
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
193_HIS PRO ClinVar
chr17:7578271
rs786201838
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
193_HIS ASP ClinVar
chr17:7578272
rs876658468
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
193_HIS ASN ClinVar
chr17:7578272
rs876658468
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
194_LEU PRO VAR_005949 rs1057519998
Unclassified - Sporadic cancers
194_LEU ARG VAR_005950 rs1057519998
Unclassified - Sporadic cancers
194_LEU PHE VAR_044997 rs587780071
Unclassified - Sporadic cancers
194_LEU HIS VAR_044998 rs1057519998
Unclassified - Sporadic cancers
194_LEU ILE VAR_044999 -
Unclassified - Sporadic cancers
194_LEU VAL VAR_045000 -
Unclassified - Sporadic cancers
194_LEU PHE ClinVar
chr17:7578269
rs587780071
Likely pathogenic - Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
195_ILE THR VAR_005951 rs760043106
Unclassified - Sporadic cancers
195_ILE PHE VAR_045001 rs942158624
Unclassified - Sporadic cancers
195_ILE ASN VAR_045002 rs760043106
Unclassified - Sporadic cancers
195_ILE SER VAR_045003 rs760043106
Unclassified - Sporadic cancers
195_ILE VAL VAR_045004 -
Unclassified - A sporadic cancer
195_ILE TYR VAR_045806 -
Unclassified - A sporadic cancer
195_ILE LEU VAR_047172 -
Unclassified - A sporadic cancer
195_ILE THR ClinVar
chr17:7578265
rs760043106
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
195_ILE PHE ClinVar
chr17:7578266
rs942158624
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
195_ILE SER ClinVar
chr17:7578265
rs760043106
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
196_ARG GLY VAR_045005 rs397516435
Unclassified - Sporadic cancers
196_ARG LEU VAR_045006 rs483352697
Unclassified - Sporadic cancers
196_ARG PRO VAR_045007 rs483352697
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
196_ARG GLN VAR_045008 rs483352697
Unclassified - Sporadic cancers
196_ARG SER VAR_045009 -
Unclassified - A sporadic cancer
196_ARG TER ClinVar
chr17:7578263
rs397516435
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
196_ARG PRO ClinVar
chr17:7578262
rs483352697
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
197_VAL GLU VAR_045010 -
Unclassified - A familial cancer not matching LFS
197_VAL GLY VAR_045011 -
Unclassified - Sporadic cancers
197_VAL LEU VAR_045012 rs786204041
Unclassified - Sporadic cancers
197_VAL MET VAR_045013 rs786204041
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
198_GLU LYS VAR_005952 -
Unclassified - Sporadic cancers
198_GLU ASP VAR_045014 -
Unclassified - A sporadic cancer
198_GLU GLY VAR_045015 -
Unclassified - Sporadic cancers
198_GLU GLN VAR_045016 -
Unclassified - Sporadic cancers
198_GLU VAL VAR_045017 -
Unclassified - A sporadic cancer
199_GLY ALA VAR_045018 -
Unclassified - A sporadic cancer
199_GLY GLU VAR_045019 -
Unclassified - Sporadic cancers
199_GLY ARG VAR_045020 -
Unclassified - Sporadic cancers
199_GLY VAL VAR_045021 -
Unclassified - Sporadic cancers
199_GLY VAL ClinVar
chr17:7578253
rs1555525857
Likely pathogenic - not provided [MedGen:CN517202]
201_LEU PHE VAR_045027 rs730882024
Unclassified - Sporadic cancers
201_LEU PRO VAR_045028 -
Unclassified - A sporadic cancer
201_LEU SER VAR_045029 -
Unclassified - A sporadic cancer
202_ARG CYS VAR_045030 rs587780072
Unclassified - Sporadic cancers
202_ARG GLY VAR_045031 rs587780072
Unclassified - Sporadic cancers
202_ARG HIS VAR_045032 rs587778719
Unclassified - Sporadic cancers
202_ARG LEU VAR_045033 rs587778719
Unclassified - Sporadic cancers
202_ARG PRO VAR_045034 -
Unclassified - Sporadic cancers
202_ARG SER VAR_045035 -
Unclassified - Sporadic cancers
203_VAL ALA VAR_045036 -
Unclassified - Sporadic cancers
203_VAL GLU VAR_045037 -
Unclassified - Sporadic cancers
203_VAL LEU VAR_045038 -
Unclassified - Sporadic cancers
203_VAL MET VAR_045039 rs730882003
Unclassified - Sporadic cancers
203_VAL TRP VAR_045808 -
Unclassified - A sporadic cancer
204_GLU ALA VAR_045040 -
Unclassified - Sporadic cancers
204_GLU ASP VAR_045041 -
Unclassified - Sporadic cancers
204_GLU GLY VAR_045042 rs1260903787
Unclassified - Sporadic cancers
204_GLU LYS VAR_045043 -
Unclassified - Sporadic cancers
204_GLU GLN VAR_045044 -
Unclassified - A sporadic cancer
204_GLU VAL VAR_045045 -
Unclassified - A sporadic cancer
205_TYR CYS VAR_005953 rs1057520007
Unclassified - Sporadic cancers
205_TYR ASP VAR_005954 rs1057520008
Unclassified - Sporadic cancers
205_TYR HIS VAR_045046 rs1057520008
Unclassified - Sporadic cancers
205_TYR ASN VAR_045047 rs1057520008
Unclassified - Sporadic cancers
205_TYR SER VAR_045048 rs1057520007
Unclassified - Sporadic cancers
205_TYR PHE VAR_047175 rs1057520007
Unclassified - Sporadic cancers
205_TYR TER ClinVar
chr17:7578234
rs786202222
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
205_TYR CYS ClinVar
chr17:7578235
rs1057520007
Likely pathogenic - Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
205_TYR PHE ClinVar
chr17:7578235
rs1057520007
Likely pathogenic - Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
205_TYR SER ClinVar
chr17:7578235
rs1057520007
Likely pathogenic - Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
205_TYR HIS ClinVar
chr17:7578236
rs1057520008
Likely pathogenic - Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
206_LEU PHE VAR_045049 -
Unclassified - A sporadic cancer
206_LEU MET VAR_045050 -
Unclassified - A sporadic cancer
207_ASP GLU VAR_045051 -
Unclassified - Sporadic cancers
207_ASP GLY VAR_045052 -
Unclassified - Sporadic cancers
207_ASP HIS VAR_045053 -
Unclassified - Sporadic cancers
207_ASP ASN VAR_045054 rs923100890
Unclassified - Sporadic cancers
207_ASP VAL VAR_045055 -
Unclassified - A sporadic cancer
207_ASP TYR VAR_045056 -
Unclassified - A sporadic cancer
208_ASP GLU VAR_045057 -
Unclassified - Sporadic cancers
208_ASP GLY VAR_045058 -
Unclassified - Sporadic cancers
208_ASP HIS VAR_045059 -
Unclassified - A sporadic cancer
208_ASP ASN VAR_045060 -
Unclassified - Sporadic cancers
208_ASP VAL VAR_045061 rs1464727668
Unclassified - Sporadic cancers
208_ASP TYR VAR_045062 -
Unclassified - A sporadic cancer
208_ASP ILE VAR_045809 -
Unclassified - A sporadic cancer
209_ARG ILE VAR_045063 -
Unclassified - Sporadic cancers
209_ARG LYS VAR_045064 -
Unclassified - Sporadic cancers
209_ARG SER VAR_045065 -
Unclassified - A sporadic cancer
209_ARG THR VAR_045066 -
Unclassified - Sporadic cancers
210_ASN ASP VAR_045067 -
Unclassified - Sporadic cancers
210_ASN HIS VAR_045068 -
Unclassified - Sporadic cancers
210_ASN ILE VAR_045069 -
Unclassified - A sporadic cancer
210_ASN LYS VAR_045070 -
Unclassified - A sporadic cancer
210_ASN SER VAR_045071 -
Unclassified - Sporadic cancers
210_ASN THR VAR_045072 -
Unclassified - A sporadic cancer
210_ASN TYR VAR_045073 rs1060501200
Unclassified - A familial cancer not matching LFS
211_THR ALA VAR_045074 rs1060501198
Unclassified - Sporadic cancers
211_THR ILE VAR_045075 -
Unclassified - Sporadic cancers
211_THR ASN VAR_045076 -
Unclassified - Sporadic cancers
211_THR PRO VAR_045077 -
Unclassified - A sporadic cancer
211_THR SER VAR_045078 -
Unclassified - Sporadic cancers
212_PHE ILE VAR_045079 rs1064795766
Unclassified - Sporadic cancers
212_PHE LEU VAR_045080 -
Unclassified - Sporadic cancers
212_PHE SER VAR_045081 -
Unclassified - Sporadic cancers
212_PHE VAL VAR_045082 -
Unclassified - A sporadic cancer
212_PHE TYR VAR_045083 -
Unclassified - Sporadic cancers
213_ARG GLN VAR_005955 rs587778720
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
213_ARG PRO VAR_036506 rs587778720
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
213_ARG GLY VAR_045084 rs397516436
Unclassified - Sporadic cancers
213_ARG LEU VAR_045085 rs587778720
Unclassified - Sporadic cancers
213_ARG TRP VAR_045086 -
Unclassified - Sporadic cancers
213_ARG TER ClinVar
chr17:7578212
rs397516436
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; not provided [MedGen:CN517202]
213_ARG GLN ClinVar
chr17:7578211
rs587778720
Pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; PARP Inhibitor response [MedGen:CN240833]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
213_ARG PRO ClinVar
chr17:7578211
rs587778720
Pathogenic/Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not specified [MedGen:CN169374]
213_ARG LEU ClinVar
chr17:7578211
rs587778720
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
213_ARG GLY ClinVar
chr17:7578212
rs397516436
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adenoid cystic carcinoma [MeSH:D003528,MedGen:C0010606]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Nasopharyngeal Neoplasms [MeSH:D009303,MedGen:C0027439]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
214_HIS ASP VAR_045087 -
Unclassified - Sporadic cancers
214_HIS PRO VAR_045088 rs1057519992
Unclassified - A sporadic cancer
214_HIS ARG VAR_045089 rs1057519992
Unclassified - Sporadic cancers
214_HIS TYR VAR_045090 -
Unclassified - Sporadic cancers
214_HIS GLN VAR_047177 rs587781386
Unclassified - Sporadic cancers
214_HIS LEU ClinVar
chr17:7578208
rs1057519992
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
215_SER CYS VAR_045091 -
Unclassified - Sporadic cancers
215_SER GLY VAR_045092 rs886039484
Unclassified - Sporadic cancers
215_SER ILE VAR_045093 rs587782177
Unclassified - Sporadic cancers
215_SER ASN VAR_045094 rs587782177
Unclassified - Sporadic cancers
215_SER ARG VAR_045095 rs1057520001
Unclassified - Sporadic cancers
215_SER THR VAR_045096 rs587782177
Unclassified - Sporadic cancers
215_SER LYS VAR_045810 -
Unclassified - Sporadic cancers
215_SER ILE ClinVar
chr17:7578205
rs587782177
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]
215_SER ASN ClinVar
chr17:7578205
rs587782177
Likely pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]
216_VAL MET VAR_005956 rs730882025
Unclassified - Sporadic cancers
216_VAL ALA VAR_045097 -
Unclassified - Sporadic cancers
216_VAL GLU VAR_045098 rs1057520004
Unclassified - Sporadic cancers
216_VAL GLY VAR_045099 rs1057520004
Unclassified - Sporadic cancers
216_VAL LEU VAR_045100 rs730882025
Unclassified - Sporadic cancers
216_VAL TRP VAR_045811 -
Unclassified - A sporadic cancer
216_VAL LEU ClinVar
chr17:7578203
rs730882025
Likely pathogenic - Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
216_VAL GLY ClinVar
chr17:7578202
rs1057520004
Likely pathogenic - Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
216_VAL GLU ClinVar
chr17:7578202
rs1057520004
Likely pathogenic - Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Uterine Carcinosarcoma [MedGen:C0280630]
217_VAL ALA VAR_045101 -
Unclassified - Sporadic cancers
217_VAL GLU VAR_045102 -
Unclassified - Sporadic cancers
217_VAL GLY VAR_045103 -
Unclassified - Sporadic cancers
217_VAL ILE VAR_045104 -
Unclassified - A sporadic cancer
217_VAL LEU VAR_045105 -
Unclassified - Sporadic cancers
217_VAL MET VAR_047178 rs35163653
Polymorphism - -
218_VAL ALA VAR_045106 -
Unclassified - Sporadic cancers
218_VAL GLU VAR_045107 -
Unclassified - Sporadic cancers
218_VAL GLY VAR_045108 -
Unclassified - Sporadic cancers
218_VAL LEU VAR_045109 -
Unclassified - Sporadic cancers
218_VAL MET VAR_045110 rs878854072
Unclassified - Sporadic cancers
218_VAL MET ClinVar
chr17:7578197
rs878854072
Pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
219_PRO HIS VAR_045111 -
Unclassified - A sporadic cancer
219_PRO LEU VAR_045112 rs1420675064
Unclassified - Sporadic cancers
219_PRO ARG VAR_045113 -
Unclassified - A sporadic cancer
219_PRO SER VAR_045114 rs879253894
Unclassified - A familial cancer not matching LFS
219_PRO THR VAR_045115 -
Unclassified - Sporadic cancers
219_PRO CYS VAR_045812 -
Unclassified - A sporadic cancer
220_TYR CYS VAR_005957 rs121912666
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
220_TYR HIS VAR_005958 rs530941076
Unclassified - Sporadic cancers
220_TYR SER VAR_005959 rs121912666
Unclassified - A brain tumor with no family history
220_TYR ASP VAR_045116 rs530941076
Unclassified - Sporadic cancers
220_TYR PHE VAR_045117 -
Unclassified - A sporadic cancer
220_TYR ASN VAR_045118 rs530941076
Unclassified - Sporadic cancers
220_TYR SER ClinVar
chr17:7578190
rs121912666
Pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Li-Fraumeni syndrome 1 [Gene:553989,MedGen:C1835398,OMIM:151623]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
220_TYR CYS ClinVar
chr17:7578190
rs121912666
Pathogenic - Acute myeloid leukemia [Human Phenotype Ontology:HP:0004808,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:ORPHA519,SNOMED CT:17788007]; Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
220_TYR ASN ClinVar
chr17:7578191
rs530941076
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
220_TYR ASP ClinVar
chr17:7578191
rs530941076
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
221_GLU ALA VAR_045119 -
Unclassified - Sporadic cancers
221_GLU ASP VAR_045120 -
Unclassified - Sporadic cancers
221_GLU GLY VAR_045121 -
Unclassified - Sporadic cancers
221_GLU LYS VAR_045122 rs786201592
Unclassified - Sporadic cancers
221_GLU GLN VAR_045123 -
Unclassified - Sporadic cancers
222_PRO ALA VAR_045124 -
Unclassified - A sporadic cancer
222_PRO LEU VAR_045125 rs146340390
Unclassified - Sporadic cancers
222_PRO GLN VAR_045126 -
Unclassified - Sporadic cancers
222_PRO ARG VAR_045127 -
Unclassified - A sporadic cancer
222_PRO SER VAR_045128 rs1060501203
Unclassified - Sporadic cancers
222_PRO THR VAR_045129 -
Unclassified - Sporadic cancers
223_PRO HIS VAR_045130 rs138983188
Unclassified - Sporadic cancers
223_PRO LEU VAR_045131 rs138983188
Unclassified - Sporadic cancers
223_PRO ARG VAR_045132 -
Unclassified - A sporadic cancer
223_PRO SER VAR_045133 -
Unclassified - A sporadic cancer
223_PRO THR VAR_045134 -
Unclassified - A sporadic cancer
223_PRO ALA VAR_047179 -
Unclassified - A sporadic cancer
228_GLU ASP VAR_045135 rs267605076
Unclassified - Sporadic cancers
228_GLU GLY VAR_045136 -
Unclassified - Sporadic cancers
228_GLU LYS VAR_045137 -
Unclassified - Sporadic cancers
228_GLU VAL VAR_045138 -
Unclassified - A sporadic cancer
229_CYS GLY VAR_045158 -
Unclassified - A sporadic cancer
229_CYS ARG VAR_045159 rs1064794312
Unclassified - Sporadic cancers
229_CYS SER VAR_045160 -
Unclassified - Sporadic cancers
229_CYS TYR VAR_045161 rs1064793603
Unclassified - Sporadic cancers
229_CYS ASN VAR_045846 -
Unclassified - A sporadic cancer
230_THR ILE VAR_005961 -
Unclassified - Sporadic cancers
230_THR ALA VAR_045162 -
Unclassified - Sporadic cancers
230_THR ASN VAR_045163 -
Unclassified - Sporadic cancers
230_THR PRO VAR_045164 -
Unclassified - Sporadic cancers
230_THR SER VAR_045165 -
Unclassified - Sporadic cancers
231_THR ALA VAR_045166 -
Unclassified - Sporadic cancers
231_THR ILE VAR_045167 -
Unclassified - Sporadic cancers
231_THR ASN VAR_045168 -
Unclassified - Sporadic cancers
231_THR SER VAR_045169 -
Unclassified - Sporadic cancers
231_THR ALA 4.7kJPN
chr17:7577590
-
- 0.0001 -
232_ILE THR VAR_005962 rs587781589
Unclassified - Sporadic cancers
232_ILE PHE VAR_045170 -
Unclassified - Sporadic cancers
232_ILE LEU VAR_045171 -
Unclassified - Sporadic cancers
232_ILE ASN VAR_045172 -
Unclassified - Sporadic cancers
232_ILE SER VAR_045173 -
Unclassified - Sporadic cancers
232_ILE VAL VAR_045174 -
Unclassified - Sporadic cancers
232_ILE THR ClinVar
chr17:7577586
rs587781589
Likely pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; not specified [MedGen:CN169374]
233_HIS ASP VAR_045175 -
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
233_HIS LEU VAR_045176 -
Unclassified - Sporadic cancers
233_HIS PRO VAR_045177 -
Unclassified - A sporadic cancer
233_HIS GLN VAR_045178 -
Unclassified - Sporadic cancers
233_HIS TYR VAR_045179 -
Unclassified - Sporadic cancers
233_HIS ARG VAR_047181 rs879254233
Unclassified - Sporadic cancers
234_TYR CYS VAR_005963 rs587780073
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
234_TYR HIS VAR_005964 rs864622237
Unclassified - Sporadic cancers
234_TYR ASP VAR_045180 rs864622237
Unclassified - Sporadic cancers
234_TYR PHE VAR_045181 -
Unclassified - A sporadic cancer
234_TYR ASN VAR_045182 rs864622237
Unclassified - Sporadic cancers
234_TYR SER VAR_045183 rs587780073
Unclassified - Sporadic cancers
234_TYR LYS VAR_045847 -
Unclassified - A sporadic cancer
234_TYR GLN VAR_045848 -
Unclassified - A sporadic cancer
234_TYR CYS ClinVar
chr17:7577580
rs587780073
Pathogenic/Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; not provided [MedGen:CN517202]
234_TYR SER ClinVar
chr17:7577580
rs587780073
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
234_TYR ASN ClinVar
chr17:7577581
rs864622237
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Adrenocortical carcinoma [Human Phenotype Ontology:HP:0006744,MeSH:D018268,MedGen:C0206686,Orphanet:ORPHA1501]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Small cell lung cancer [Human Phenotype Ontology:HP:0030357,MeSH:D055752,MedGen:C0149925,OMIM:182280,Orphanet:ORPHA70573]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]
235_ASN HIS VAR_045184 -
Unclassified - A sporadic cancer
235_ASN ILE VAR_045185 rs144340710
Unclassified - Sporadic cancers
235_ASN SER VAR_045186 rs144340710
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
235_ASN THR VAR_045187 -
Unclassified - Sporadic cancers
235_ASN TYR VAR_045188 rs786204145
Unclassified - Sporadic cancers
235_ASN MET VAR_045849 -
Unclassified - A sporadic cancer
235_ASN ASP VAR_047182 -
Unclassified - An adrenocortical carcinoma with no family history
236_TYR CYS VAR_045189 rs730882026
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
236_TYR ASP VAR_045190 rs587782289
Unclassified - Sporadic cancers
236_TYR PHE VAR_045191 -
Unclassified - A sporadic cancer
236_TYR HIS VAR_045192 rs587782289
Unclassified - Sporadic cancers
236_TYR ASN VAR_045193 rs587782289
Unclassified - Sporadic cancers
236_TYR SER VAR_045194 rs730882026
Unclassified - Sporadic cancers
236_TYR ASP ClinVar
chr17:7577575
rs587782289
Pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
236_TYR CYS ClinVar
chr17:7577574
rs730882026
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
237_MET ILE VAR_005965 rs587782664
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
237_MET LYS VAR_045195 rs765848205
Unclassified - Sporadic cancers
237_MET LEU VAR_045196 -
Unclassified - Sporadic cancers
237_MET ARG VAR_045197 rs765848205
Unclassified - Sporadic cancers
237_MET THR VAR_045198 -
Unclassified - Sporadic cancers
237_MET VAL VAR_045199 rs730882004
Unclassified - Sporadic cancers
237_MET LYS ClinVar
chr17:7577571
rs765848205
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell lung carcinoma [Human Phenotype Ontology:HP:0030359,MedGen:C0149782]
238_CYS PHE VAR_005966 rs730882005
Unclassified - Sporadic cancers
238_CYS TYR VAR_005967 rs730882005
Unclassified - A familial cancer not matching LFS
238_CYS GLY VAR_045200 rs1057519981
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
238_CYS ARG VAR_045201 rs1057519981
Unclassified - Sporadic cancers
238_CYS SER VAR_045202 rs730882005
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
238_CYS TRP VAR_045203 rs193920789
Unclassified - Sporadic cancers
238_CYS HIS VAR_045850 -
Unclassified - A sporadic cancer
238_CYS TRP ClinVar
chr17:7577567
rs193920789
Pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Malignant tumor of prostate [Human Phenotype Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED CT:399068003]
238_CYS TYR ClinVar
chr17:7577568
rs730882005
Pathogenic/Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]; not provided [MedGen:CN517202]
238_CYS PHE ClinVar
chr17:7577568
rs730882005
Pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS SER ClinVar
chr17:7577568
rs730882005
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS ARG ClinVar
chr17:7577569
rs1057519981
Pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS GLY ClinVar
chr17:7577569
rs1057519981
Likely pathogenic - Adenocarcinoma of stomach [MedGen:C0278701]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Chronic lymphocytic leukemia [Human Phenotype Ontology:HP:0005550,MeSH:D015451,MedGen:C0023434,OMIM:151400,Orphanet:ORPHA67038,SNOMED CT:277473004,SNOMED CT:51092000]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Multiple myeloma [Human Phenotype Ontology:HP:0006775,MeSH:D009101,MedGen:C0026764,OMIM:254500,Orphanet:ORPHA29073,SNOMED CT:109989006,SNOMED CT:55921005]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; Uterine cervical neoplasms [MeSH:D002583,MedGen:CN236667]
238_CYS SER ClinVar
chr17:7577569
rs1057519981
Pathogenic - Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]
239_ASN ASP VAR_045204 rs876660807
Unclassified - Sporadic cancers
239_ASN HIS VAR_045205 -
Unclassified - A sporadic cancer
239_ASN ILE VAR_045206 -
Unclassified - A sporadic cancer
239_ASN LYS VAR_045207 rs1057522275
Unclassified - Sporadic cancers
239_ASN SER VAR_045208 rs1057519999
Unclassified - Sporadic cancers
239_ASN THR VAR_045209 rs1057519999
Unclassified - Sporadic cancers
239_ASN TYR VAR_045210 -
Unclassified - Sporadic cancers
239_ASN SER ClinVar
chr17:7577565
rs1057519999
Likely pathogenic - Adenocarcinoma of prostate [MedGen:C0007112]; Adenocarcinoma of stomach [MedGen:C0278701]; Hepatocellular carcinoma [Human Phenotype Ontology:HP:0001402,MedGen:C2239176,OMIM:114550,Orphanet:ORPHA88673,SNOMED CT:187769009,SNOMED CT:25370001]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Uterine Carcinosarcoma [MedGen:C0280630]
240_SER ILE VAR_005968 -
Unclassified - Sporadic cancers
240_SER CYS VAR_045211 -
Unclassified - Sporadic cancers
240_SER GLY VAR_045212 -
Unclassified - Sporadic cancers
240_SER ASN VAR_045213 -
Unclassified - Sporadic cancers
240_SER PRO VAR_045214 -
Unclassified - A sporadic cancer
240_SER ARG VAR_045215 -
Unclassified - Sporadic cancers
240_SER THR VAR_045216 -
Unclassified - Sporadic cancers
240_SER GLY ClinVar
chr17:7577563
-
Likely pathogenic - Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]
241_SER PHE VAR_005969 rs28934573
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
241_SER ALA VAR_033036 rs1057520002
Unclassified - Sporadic cancers
241_SER CYS VAR_045217 rs28934573
Unclassified - Sporadic cancers
241_SER PRO VAR_045218 rs1057520002
Unclassified - Sporadic cancers
241_SER TYR VAR_045219 rs28934573
Unclassified - Sporadic cancers
241_SER THR VAR_047183 -
Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
241_SER PHE ClinVar
chr17:7577559
rs28934573
Likely pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hepatoblastoma [Human Phenotype Ontology:HP:0002884,MedGen:C0206624,Orphanet:ORPHA449]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Osteosarcoma [Human Phenotype Ontology:HP:0002669,MeSH:D012516,MedGen:C0029463,OMIM:259500,Orphanet:ORPHA668,SNOMED CT:21708004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
241_SER CYS ClinVar
chr17:7577559
rs28934573
Likely pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Hereditary cancer-predisposing syndrome [MedGen:C0027672,SNOMED CT:699346009]; Li-Fraumeni syndrome [MedGen:C0085390,Orphanet:ORPHA524,SNOMED CT:428850001]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]; not provided [MedGen:CN517202]
241_SER TYR ClinVar
chr17:7577559
rs28934573
Likely pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
241_SER PRO ClinVar
chr17:7577560
rs1057520002
Likely pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
241_SER ALA ClinVar
chr17:7577560
rs1057520002
Likely pathogenic - Brainstem glioma [Human Phenotype Ontology:HP:0010796,MedGen:C0677865]; Carcinoma of esophagus [Human Phenotype Ontology:HP:0011459,MedGen:C0152018,Orphanet:ORPHA70482]; Carcinoma of gallbladder [MedGen:C0235782]; Glioblastoma [MeSH:D005909,MedGen:C0017636,Orphanet:ORPHA360,SNOMED CT:63634009]; Lung adenocarcinoma [Human Phenotype Ontology:HP:0030078,MeSH:C538231,MedGen:C0152013]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Neoplasm of brain [Human Phenotype Ontology:HP:0030692,MeSH:D001932,MedGen:C0006118,SNOMED CT:126952004]; Neoplasm of the breast [Human Phenotype Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED CT:126926005]; Neoplasm of the large intestine [Human Phenotype Ontology:HP:0100834,MeSH:D015179,MedGen:C0009404,SNOMED CT:126837005]; Non-Hodgkin lymphoma [Human Phenotype Ontology:HP:0012539,MedGen:C0024305,OMIM:605027,Orphanet:ORPHA547,SNOMED CT:1929004]; Ovarian Serous Cystadenocarcinoma [MedGen:C0279663]; Pancreatic adenocarcinoma [Human Phenotype Ontology:HP:0006725,MedGen:C0281361]; Papillary renal cell carcinoma, sporadic [MeSH:C538614,MedGen:C1336078]; Renal cell carcinoma, papillary, 1 [Human Phenotype Ontology:HP:0005584,MeSH:D002292,MedGen:C0007134,OMIM:605074,Orphanet:ORPHA217071,SNOMED CT:41607009]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]; Transitional cell carcinoma of the bladder [Human Phenotype Ontology:HP:0006740,MedGen:C0279680]; Uterine Carcinosarcoma [MedGen:C0280630]
242_CYS PHE VAR_005970 rs121912655
Unclassified - Sporadic cancers
242_CYS GLY VAR_045220 rs1057519982
Unclassified - Sporadic cancers