| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| DPYD R29C | insufficiently evaluated pharmacogenetic, f=0.714 | other | This variant is also known as DPYD*9A, and is associated with Dihydropyrimidine dehydrogenase deficiency and impaired clearance of 5-fluorouracil with potential toxic consequence.
(21 web hits) | CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome (hom) |
| hu3215A7 build 36 substitution variants |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM (hom) |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| CGI sample GS00253-DNA_F01_200_37 (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 (hom) |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| DPYD C29R | insufficiently evaluated pathogenic | unknown |
(72 web hits) | |
| DPYD I116M | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18555-1100-36-ASM |
| DPYD M166V | pharmacogenetic, f=0.078 | unknown | Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil.
(30 web hits) | CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| var-GS19700-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS10851-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| DPYD F167L | insufficiently evaluated not reviewed | unknown |
| |
| DPYD A278Shift | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| DPYD M406I | insufficiently evaluated not reviewed, f=0.020 | unknown |
(1 web hit) | |
| DPYD A450V | insufficiently evaluated none, f=0.000 | unknown |
| var-GS19239-1100-36-ASM |
| var-GS19240-1100-36-ASM |
| DPYD D495G | insufficiently evaluated not reviewed | unknown |
| |
| DPYD S534N | insufficiently evaluated pharmacogenetic, f=0.016 | recessive | The variant was implicated in dihydropyrimidine dehydrogenase deficiency when present as a compound heterozygote with M166V. This enzyme is important in the metabolism of the anticancer drug 5-fluorouracil.
(26 web hits) | var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| var-GS19670-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| DPYD I543V | insufficiently evaluated pharmacogenetic, f=0.185 | unknown | Increase incidence of nausea with fluoruracil.
(34 web hits) | CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| var-GS19025-1100-36-ASM (hom) |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM (hom) |
| CGI sample GS000006909 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| var-GS19704-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| var-GS18505-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS19026-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| DPYD I560N | insufficiently evaluated not reviewed | unknown |
| |
| DPYD R592W | insufficiently evaluated none, f=0.008 | unknown |
| var-GS18956-1100-36-ASM |
| DPYD V732I | insufficiently evaluated none, f=0.042 | unknown |
(19 web hits) | hu34D5B9 exome |
| CGI sample GS000006909 |
| var-GS07357-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS20502-1100-36-ASM |
| var-GS19670-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| DPYD T760I | insufficiently evaluated not reviewed | unknown |
| |
| DPYD R886H | insufficiently evaluated pathogenic | unknown |
(31 web hits) | |
| DPYD D949V | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS12004-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| DPYD Q972R | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS19704-1100-36-ASM |
| DPYD D974V | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
Page: 1 2
Total results: 19 |