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+ Genes 5

Genes:
APC, BARD1, MTAP, PMS2, RAD51B,

+ Genes associated with diseases 4

Genes at Omim

APC, BARD1, MTAP, PMS2,
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)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)

Genes at Clinical Genomics Database

APC, BARD1, MTAP, PMS2,
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
BARD1 Breast cancer, susceptibility to
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 5

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 17on508_ioncode_0113 5 rs2229992
dbSNP Clinvar 		112162854 801.907 T C PASS 0/1 399 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%
View 17on508_ioncode_0113 5 rs41115
dbSNP Clinvar 		112175770 816.277 G A PASS 0/1 361 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%

BARD1
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 17on508_ioncode_0113 2 . 215632255 1395.39 CA CG,TG PASS 1/2 141 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None BARD1|0.230178617|33.35%

MTAP
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 17on508_ioncode_0113 9 rs10965163
dbSNP Clinvar 		21854740 667.906 C T PASS 0/1 359 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04073 0.04073 0.06620 None None None None None None MTAP|0.185455845|38.31%
View 17on508_ioncode_0113 9 rs7023954
dbSNP Clinvar 		21816758 886.925 G A PASS 0/1 294 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.38818 0.38820 0.42173 0.18 0.02 None None None None None None MTAP|0.185455845|38.31%

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 17on508_ioncode_0113 7 . 6018242 11.7441 CA C PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None PMS2|0.061509857|59.43%

RAD51B
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 17on508_ioncode_0113 14 . 68331719 13.5845 G GTT PASS 0/1 20 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None RAD51B|0.948387091|2.3%
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