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+ Genes 3

Genes:
APC, PMS2, TP53,

+ Genes associated with diseases 3

Genes at Omim

APC, PMS2, TP53,
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Hepatoblastoma, somatic, 114550 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
TP53 {Choroid plexus papilloma}, 260500 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
{Colorectal cancer}, 114500 (3)
{Glioma susceptibility 1}, 137800 (3)
{Osteosarcoma}, 259500 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)

Genes at Clinical Genomics Database

APC, PMS2, TP53,
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 3

Export to: CSV
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APC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 5 rs459552
dbSNP Clinvar 		112176756 18298.3 T A . 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.86542 0.86540 0.17374 0.50 0.00 1.49 None None rs459552 2_2_2_2 Adenomatous_polyposis_coli_not_provided_not_specified_Neoplastic_Syndromes\x2c_Hereditary None APC|0.952088564|2.19%

PMS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs1802683
dbSNP Clinvar 		6013049 1015.95 C G . 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 0.85 None None rs1802683 2_2_2_2 Lynch_syndrome_not_provided_not_specified_Neoplastic_Syndromes\x2c_Hereditary None PMS2|0.061509857|59.43%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 7 rs1805321
dbSNP Clinvar 		6026988 15342.9 G A . 0/1 189 NON_SYNONYMOUS_CODING MODERATE None 0.35823 0.35820 0.37383 0.43 0.00 -0.66 None None rs1805321 2_2_2_2 Lynch_syndrome_not_provided_not_specified_Neoplastic_Syndromes\x2c_Hereditary None PMS2|0.061509857|59.43%

TP53
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 17 rs1042522
dbSNP Clinvar 		7579472 8166.9 G C . 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.54293 0.54290 0.36996 0.57 0.05 -0.42 None None rs1042522 2_2_2_2 CODON_72_POLYMORPHISM\x2c__rs1042522__not_provided_not_specified_Neoplastic_Syndromes\x2c_Hereditary None TP53|0.999869342|0.2%
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