| NM_000110.3(DPYD):c.1974+1G>A |
single nucleotide variant |
not specified [RCV000521535] |
Chr1:97382392 [GRCh38]
Chr1:97847948 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1905+1G>A |
single nucleotide variant |
Autistic disorder of childhood onset [RCV000735355]|Dihydropyrimidine dehydrogenase deficiency [RCV000000460]|Fluorouracil response [RCV000030868]|Hirschsprung disease 1 [RCV000201291]|Pyrimidine analogues response - Toxicity/ADR [RCV000211222]|Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK [RCV000660824]|capecitabine response - Toxicity/ADR [RCV000211317]|capecitabine response - Toxicity/ADR, Metabolism/PK [RCV000660822]|fluorouracil response - Toxicity/ADR [RCV000211404]|fluorouracil response - Toxicity/ADR, Metabolism/PK [RCV000660823]|not provided [RCV000086468]|tegafur response - Toxicity/ADR [RCV000211354]|tegafur response - Toxicity/ADR, Metabolism/PK [RCV000660825] |
Chr1:97450058 [GRCh38]
Chr1:97915614 [GRCh37]
Chr1:97688202 [NCBI36]
Chr1:1p21.3 |
pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided |
| DPYD, 4-BP DEL, 296TCAT |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000000463] |
Chr1:1p22 |
pathogenic |
| DPYD, 1-BP DEL, 1897C |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000000465] |
Chr1:1p22 |
pathogenic |
| NM_000110.3(DPYD):c.2564C>G (p.Ala855Gly) |
single nucleotide variant |
not provided [RCV000727995] |
Chr1:97193127 [GRCh38]
Chr1:97658683 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.345G>C (p.Met115Ile) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000765482]|not specified [RCV000519376] |
Chr1:97721648 [GRCh38]
Chr1:98187204 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2921A>T (p.Asp974Val) |
single nucleotide variant |
Fluorouracil response [RCV000030869] |
Chr1:97079133 [GRCh38]
Chr1:97544689 [GRCh37]
Chr1:1p21.3 |
pathogenic |
| NM_000110.3(DPYD):c.234-16132G>C |
single nucleotide variant |
Lung cancer [RCV000091053] |
Chr1:97756611 [GRCh38]
Chr1:98222167 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.40-14756G>A |
single nucleotide variant |
Lung cancer [RCV000091054] |
Chr1:97898130 [GRCh38]
Chr1:98363686 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.85T>C (p.Cys29Arg) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000000464]|not provided [RCV000711510] |
Chr1:97883329 [GRCh38]
Chr1:98348885 [GRCh37]
Chr1:1p21.3 |
pathogenic|benign |
| NM_000110.3(DPYD):c.2657G>A (p.Arg886His) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000000466] |
Chr1:97098598 [GRCh38]
Chr1:97564154 [GRCh37]
Chr1:1p21.3 |
pathogenic|uncertain significance |
| GRCh38/hg38 1p21.3(chr1:96991619-97565945)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051526]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051526]|See cases [RCV000051526] |
Chr1:96991619..97565945 [GRCh38]
Chr1:97457175..98031501 [GRCh37]
Chr1:97229763..97804089 [NCBI36]
Chr1:1p21.3 |
uncertain significance |
| GRCh38/hg38 1p21.3(chr1:97417705-97919058)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051527]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051527]|See cases [RCV000051527] |
Chr1:97417705..97919058 [GRCh38]
Chr1:97883261..98384614 [GRCh37]
Chr1:97655849..98157202 [NCBI36]
Chr1:1p21.3 |
uncertain significance |
| GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] |
Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3 |
pathogenic |
| GRCh38/hg38 1p21.3(chr1:96554406-97919058)x1 |
copy number loss |
Macrocephaly [RCV000053844]|See cases [RCV000053844] |
Chr1:96554406..97919058 [GRCh38]
Chr1:97019962..98384614 [GRCh37]
Chr1:96792550..98157202 [NCBI36]
Chr1:1p21.3 |
pathogenic |
| GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 |
copy number loss |
Global developmental delay [RCV000053877]|See cases [RCV000053877] |
Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3 |
pathogenic |
| NM_000110.3(DPYD):c.2418C>T (p.Leu806=) |
single nucleotide variant |
Malignant melanoma [RCV000060272] |
Chr1:97234876 [GRCh38]
Chr1:97700432 [GRCh37]
Chr1:97473020 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2383G>A (p.Gly795Arg) |
single nucleotide variant |
Malignant melanoma [RCV000060273] |
Chr1:97234911 [GRCh38]
Chr1:97700467 [GRCh37]
Chr1:97473055 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.498G>A (p.Met166Ile) |
single nucleotide variant |
Malignant melanoma [RCV000060274] |
Chr1:97699533 [GRCh38]
Chr1:98165089 [GRCh37]
Chr1:97937677 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2365C>T (p.Pro789Ser) |
single nucleotide variant |
Malignant melanoma [RCV000064967] |
Chr1:97234929 [GRCh38]
Chr1:97700485 [GRCh37]
Chr1:97473073 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2276G>A (p.Arg759Gln) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000670569]|Malignant melanoma [RCV000064968] |
Chr1:97305282 [GRCh38]
Chr1:97770838 [GRCh37]
Chr1:97543426 [NCBI36]
Chr1:1p21.3 |
uncertain significance|not provided |
| NM_000110.3(DPYD):c.1953G>A (p.Thr651=) |
single nucleotide variant |
Malignant melanoma [RCV000064969] |
Chr1:97382414 [GRCh38]
Chr1:97847970 [GRCh37]
Chr1:97620558 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1209T>C (p.Ile403=) |
single nucleotide variant |
Malignant melanoma [RCV000064970] |
Chr1:97573890 [GRCh38]
Chr1:98039446 [GRCh37]
Chr1:97812034 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.709C>T (p.Pro237Ser) |
single nucleotide variant |
Malignant melanoma [RCV000064971] |
Chr1:97691770 [GRCh38]
Chr1:98157326 [GRCh37]
Chr1:97929914 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.45C>T (p.Ile15=) |
single nucleotide variant |
Malignant melanoma [RCV000064972] |
Chr1:97883369 [GRCh38]
Chr1:98348925 [GRCh37]
Chr1:98121513 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.*961A>G |
single nucleotide variant |
not provided [RCV000086442] |
Chr1:97078015 [GRCh38]
Chr1:97543571 [GRCh37]
Chr1:97316159 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.*911A>G |
single nucleotide variant |
not provided [RCV000086443] |
Chr1:97078065 [GRCh38]
Chr1:97543621 [GRCh37]
Chr1:97316209 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.*900T>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000324600]|not provided [RCV000086444] |
Chr1:97078076 [GRCh38]
Chr1:97543632 [GRCh37]
Chr1:97316220 [NCBI36]
Chr1:1p21.3 |
uncertain significance|not provided |
| NM_000110.3(DPYD):c.*780C>T |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000320911]|not provided [RCV000086445] |
Chr1:97078196 [GRCh38]
Chr1:97543752 [GRCh37]
Chr1:97316340 [NCBI36]
Chr1:1p21.3 |
likely benign|not provided |
| NM_000110.3(DPYD):c.*768G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000384818]|not provided [RCV000086446] |
Chr1:97078208 [GRCh38]
Chr1:97543764 [GRCh37]
Chr1:97316352 [NCBI36]
Chr1:1p21.3 |
benign|not provided |
| NM_000110.3(DPYD):c.*736A>T |
single nucleotide variant |
not provided [RCV000086447] |
Chr1:97078240 [GRCh38]
Chr1:97543796 [GRCh37]
Chr1:97316384 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.*573G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000381756]|not provided [RCV000086448] |
Chr1:97078403 [GRCh38]
Chr1:97543959 [GRCh37]
Chr1:97316547 [NCBI36]
Chr1:1p21.3 |
likely benign|not provided |
| NM_000110.3(DPYD):c.*173T>C |
single nucleotide variant |
not provided [RCV000086449] |
Chr1:97078803 [GRCh38]
Chr1:97544359 [GRCh37]
Chr1:97316947 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.3067C>A (p.Pro1023Thr) |
single nucleotide variant |
not provided [RCV000086450] |
Chr1:97078987 [GRCh38]
Chr1:97544543 [GRCh37]
Chr1:97317131 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2987G>A (p.Cys996Tyr) |
single nucleotide variant |
not provided [RCV000086451] |
Chr1:97079067 [GRCh38]
Chr1:97544623 [GRCh37]
Chr1:97317211 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410600]|Fluorouracil response [RCV000500980]|Inborn genetic diseases [RCV000623094]|Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK [RCV000417148]|capecitabine response - Toxicity/ADR [RCV000211280]|capecitabine response - Toxicity/ADR, Metabolism/PK [RCV000417165]|fluorouracil response - Toxicity/ADR [RCV000211407]|fluorouracil response - Toxicity/ADR, Metabolism/PK [RCV000417132]|not provided [RCV000086452]|tegafur response - Toxicity/ADR [RCV000211225]|tegafur response - Toxicity/ADR, Metabolism/PK [RCV000417175] |
Chr1:97082391 [GRCh38]
Chr1:97547947 [GRCh37]
Chr1:97320535 [NCBI36]
Chr1:1p21.3 |
likely pathogenic|drug response|uncertain significance|other|not provided |
| NM_000110.3(DPYD):c.2766+19A>G |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000668798]|not provided [RCV000086453] |
Chr1:97098470 [GRCh38]
Chr1:97564026 [GRCh37]
Chr1:97336614 [NCBI36]
Chr1:1p21.3 |
likely benign|not provided |
| NM_000110.3(DPYD):c.2598A>G (p.Pro866=) |
single nucleotide variant |
not provided [RCV000086454] |
Chr1:97193093 [GRCh38]
Chr1:97658649 [GRCh37]
Chr1:97431237 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2532A>G (p.Glu844=) |
single nucleotide variant |
not provided [RCV000086455] |
Chr1:97193159 [GRCh38]
Chr1:97658715 [GRCh37]
Chr1:97431303 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2329G>T (p.Ala777Ser) |
single nucleotide variant |
not provided [RCV000086456] |
Chr1:97234965 [GRCh38]
Chr1:97700521 [GRCh37]
Chr1:97473109 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2301G>T (p.Gly767=) |
single nucleotide variant |
not provided [RCV000086457] |
Chr1:97234993 [GRCh38]
Chr1:97700549 [GRCh37]
Chr1:97473137 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2300-39G>A |
single nucleotide variant |
not provided [RCV000086458] |
Chr1:97235033 [GRCh38]
Chr1:97700589 [GRCh37]
Chr1:97473177 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2300-40G>T |
single nucleotide variant |
not provided [RCV000086459] |
Chr1:97235034 [GRCh38]
Chr1:97700590 [GRCh37]
Chr1:97473178 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2300-109T>C |
single nucleotide variant |
not provided [RCV000086460] |
Chr1:97235103 [GRCh38]
Chr1:97700659 [GRCh37]
Chr1:97473247 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2299+100C>T |
single nucleotide variant |
not provided [RCV000086461] |
Chr1:97305159 [GRCh38]
Chr1:97770715 [GRCh37]
Chr1:97543303 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2194G>A (p.Val732Ile) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000407597]|not provided [RCV000086462]|not specified [RCV000249656] |
Chr1:97305364 [GRCh38]
Chr1:97770920 [GRCh37]
Chr1:97543508 [NCBI36]
Chr1:1p21.3 |
benign|likely benign|not provided |
| NM_000110.3(DPYD):c.2180-44T>C |
single nucleotide variant |
not provided [RCV000086463] |
Chr1:97305422 [GRCh38]
Chr1:97770978 [GRCh37]
Chr1:97543566 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2161G>A (p.Ala721Thr) |
single nucleotide variant |
not provided [RCV000086464] |
Chr1:97306195 [GRCh38]
Chr1:97771751 [GRCh37]
Chr1:97544339 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2058+42A>G |
single nucleotide variant |
not provided [RCV000086465] |
Chr1:97373519 [GRCh38]
Chr1:97839075 [GRCh37]
Chr1:97611663 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.2049C>G (p.Ala683=) |
single nucleotide variant |
not provided [RCV000086466] |
Chr1:97373570 [GRCh38]
Chr1:97839126 [GRCh37]
Chr1:97611714 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1974+75A>G |
single nucleotide variant |
not provided [RCV000086467] |
Chr1:97382318 [GRCh38]
Chr1:97847874 [GRCh37]
Chr1:97620462 [NCBI36]
Chr1:1p21.3 |
not provided |
| DPYD:c.1905+1G>A |
single nucleotide variant |
not provided [RCV000086468] |
Chr1:97450058 [GRCh38]
Chr1:97915614 [GRCh37]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1905C>T (p.Asn635=) |
single nucleotide variant |
not provided [RCV000086469] |
Chr1:97450059 [GRCh38]
Chr1:97915615 [GRCh37]
Chr1:97688203 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1896T>C (p.Phe632=) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000270743]|not provided [RCV000086470]|not specified [RCV000244711] |
Chr1:97450068 [GRCh38]
Chr1:97915624 [GRCh37]
Chr1:97688212 [NCBI36]
Chr1:1p21.3 |
benign|likely benign|not provided |
| NM_000110.3(DPYD):c.1741-65C>T |
single nucleotide variant |
not provided [RCV000086471] |
Chr1:97450288 [GRCh38]
Chr1:97915844 [GRCh37]
Chr1:97688432 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1740+40A>G |
single nucleotide variant |
not provided [RCV000086472] |
Chr1:97515686 [GRCh38]
Chr1:97981242 [GRCh37]
Chr1:97753830 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1740+39C>T |
single nucleotide variant |
not provided [RCV000086473] |
Chr1:97515687 [GRCh38]
Chr1:97981243 [GRCh37]
Chr1:97753831 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410952]|Pyrimidine analogues response - Toxicity/ADR [RCV000211265]|capecitabine response - Toxicity/ADR [RCV000211360]|fluorouracil response - Toxicity/ADR [RCV000211143]|not provided [RCV000086474]|tegafur response - Toxicity/ADR [RCV000211391] |
Chr1:97515787 [GRCh38]
Chr1:97981343 [GRCh37]
Chr1:97753931 [NCBI36]
Chr1:1p21.3 |
pathogenic|likely pathogenic|drug response|not provided |
| NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000389596]|not provided [RCV000086475]|not specified [RCV000174446] |
Chr1:97515839 [GRCh38]
Chr1:97981395 [GRCh37]
Chr1:97753983 [NCBI36]
Chr1:1p21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000110.3(DPYD):c.1615G>A (p.Gly539Arg) |
single nucleotide variant |
not provided [RCV000086476] |
Chr1:97515851 [GRCh38]
Chr1:97981407 [GRCh37]
Chr1:97753995 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000603277]|not provided [RCV000086477]|not specified [RCV000249334] |
Chr1:97515865 [GRCh38]
Chr1:97981421 [GRCh37]
Chr1:97754009 [NCBI36]
Chr1:1p21.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000110.3(DPYD):c.1555C>T (p.Pro519Ser) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000670379]|not provided [RCV000086478] |
Chr1:97515911 [GRCh38]
Chr1:97981467 [GRCh37]
Chr1:97754055 [NCBI36]
Chr1:1p21.3 |
uncertain significance|not provided |
| NM_000110.3(DPYD):c.1524+16C>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000668834]|not provided [RCV000086479]|not specified [RCV000244377] |
Chr1:97549544 [GRCh38]
Chr1:98015100 [GRCh37]
Chr1:97787688 [NCBI36]
Chr1:1p21.3 |
likely benign|not provided |
| NM_000110.3(DPYD):c.1371C>T (p.Asn457=) |
single nucleotide variant |
not provided [RCV000086480] |
Chr1:97549713 [GRCh38]
Chr1:98015269 [GRCh37]
Chr1:97787857 [NCBI36]
Chr1:1p21.3 |
benign|not provided |
| NM_000110.3(DPYD):c.1358C>G (p.Pro453Arg) |
single nucleotide variant |
not provided [RCV000086481] |
Chr1:97549726 [GRCh38]
Chr1:98015282 [GRCh37]
Chr1:97787870 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1340-106T>A |
single nucleotide variant |
not provided [RCV000086482] |
Chr1:97549850 [GRCh38]
Chr1:98015406 [GRCh37]
Chr1:97787994 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1236G>A (p.Glu412=) |
single nucleotide variant |
not provided [RCV000086483]|not specified [RCV000252397] |
Chr1:97573863 [GRCh38]
Chr1:98039419 [GRCh37]
Chr1:97812007 [NCBI36]
Chr1:1p21.3 |
benign|not provided |
| NM_000110.3(DPYD):c.1218G>A (p.Met406Ile) |
single nucleotide variant |
not provided [RCV000086484] |
Chr1:97573881 [GRCh38]
Chr1:98039437 [GRCh37]
Chr1:97812025 [NCBI36]
Chr1:1p21.3 |
benign|not provided |
| NM_000110.3(DPYD):c.1129-11T>G |
single nucleotide variant |
not provided [RCV000086485] |
Chr1:97573981 [GRCh38]
Chr1:98039537 [GRCh37]
Chr1:97812125 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.1129-15T>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000301819]|not provided [RCV000086486]|not specified [RCV000247408] |
Chr1:97573985 [GRCh38]
Chr1:98039541 [GRCh37]
Chr1:97812129 [NCBI36]
Chr1:1p21.3 |
benign|likely benign|not provided |
| NM_000110.3(DPYD):c.959-51T>C |
single nucleotide variant |
not provided [RCV000086487] |
Chr1:97593438 [GRCh38]
Chr1:98058994 [GRCh37]
Chr1:97831582 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.958+134T>G |
single nucleotide variant |
not provided [RCV000086488] |
Chr1:97594925 [GRCh38]
Chr1:98060481 [GRCh37]
Chr1:97833069 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.958+36A>G |
single nucleotide variant |
not provided [RCV000086489] |
Chr1:97595023 [GRCh38]
Chr1:98060579 [GRCh37]
Chr1:97833167 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.887G>A (p.Gly296Asp) |
single nucleotide variant |
not provided [RCV000086490] |
Chr1:97595130 [GRCh38]
Chr1:98060686 [GRCh37]
Chr1:97833274 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.869A>G (p.Lys290Arg) |
single nucleotide variant |
not provided [RCV000086491] |
Chr1:97595148 [GRCh38]
Chr1:98060704 [GRCh37]
Chr1:97833292 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.851-31C>T |
single nucleotide variant |
not provided [RCV000086492] |
Chr1:97595197 [GRCh38]
Chr1:98060753 [GRCh37]
Chr1:97833341 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.850+90T>C |
single nucleotide variant |
not provided [RCV000086493] |
Chr1:97679005 [GRCh38]
Chr1:98144561 [GRCh37]
Chr1:97917149 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.850+41T>C |
single nucleotide variant |
not provided [RCV000086494] |
Chr1:97679054 [GRCh38]
Chr1:98144610 [GRCh37]
Chr1:97917198 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.763-118A>G |
single nucleotide variant |
not provided [RCV000086495] |
Chr1:97679300 [GRCh38]
Chr1:98144856 [GRCh37]
Chr1:97917444 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.557A>G (p.Tyr186Cys) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000671354]|fluorouracil response - Toxicity/ADR [RCV000786424]|not provided [RCV000086496] |
Chr1:97699474 [GRCh38]
Chr1:98165030 [GRCh37]
Chr1:97937618 [NCBI36]
Chr1:1p21.3 |
likely benign|drug response|not provided |
| NM_000110.3(DPYD):c.542A>C (p.Lys181Thr) |
single nucleotide variant |
not provided [RCV000086497] |
Chr1:97699489 [GRCh38]
Chr1:98165045 [GRCh37]
Chr1:97937633 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.525G>A (p.Ser175=) |
single nucleotide variant |
not provided [RCV000086498] |
Chr1:97699506 [GRCh38]
Chr1:98165062 [GRCh37]
Chr1:97937650 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.496A>G (p.Met166Val) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000276917]|capecitabine response - Toxicity/ADR [RCV000211377]|fluorouracil response - Toxicity/ADR [RCV000211196]|not provided [RCV000086499]|not specified [RCV000245015] |
Chr1:97699535 [GRCh38]
Chr1:98165091 [GRCh37]
Chr1:97937679 [NCBI36]
Chr1:1p21.3 |
benign|likely benign|drug response|not provided |
| NM_001160301.1(DPYD):c.483+18G>A |
single nucleotide variant |
not provided [RCV000086500]|not specified [RCV000253011] |
Chr1:97721492 [GRCh38]
Chr1:98187048 [GRCh37]
Chr1:97959636 [NCBI36]
Chr1:1p21.3 |
benign|not provided |
| NM_001160301.1(DPYD):c.269G>T (p.Ser90Ile) |
single nucleotide variant |
not provided [RCV000086501] |
Chr1:97740444 [GRCh38]
Chr1:98206000 [GRCh37]
Chr1:97978588 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_001160301.1(DPYD):c.265A>T (p.Lys89Ter) |
single nucleotide variant |
not provided [RCV000086502] |
Chr1:97740448 [GRCh38]
Chr1:98206004 [GRCh37]
Chr1:97978592 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_001160301.1(DPYD):c.234-81G>A |
single nucleotide variant |
not provided [RCV000086503] |
Chr1:97740560 [GRCh38]
Chr1:98206116 [GRCh37]
Chr1:97978704 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_001160301.1(DPYD):c.233+36T>C |
single nucleotide variant |
not provided [RCV000086504] |
Chr1:97828078 [GRCh38]
Chr1:98293634 [GRCh37]
Chr1:98066222 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_001160301.1(DPYD):c.151-69G>A |
single nucleotide variant |
not provided [RCV000086505] |
Chr1:97828265 [GRCh38]
Chr1:98293821 [GRCh37]
Chr1:98066409 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_001160301.1(DPYD):c.85= (p.Cys29=) |
single nucleotide variant |
not provided [RCV000086506] |
Chr1:97883329 [GRCh38]
Chr1:98348885 [GRCh37]
Chr1:98121473 [NCBI36]
Chr1:1p21.3 |
not provided |
| NM_000110.3(DPYD):c.703C>T (p.Arg235Trp) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000362597]|fluorouracil response - Other [RCV000786703] |
Chr1:97691776 [GRCh38]
Chr1:98157332 [GRCh37]
Chr1:1p21.3 |
drug response|uncertain significance |
| NM_000110.3(DPYD):c.1340-3C>G |
single nucleotide variant |
Malignant tumor of prostate [RCV000148993] |
Chr1:97549747 [GRCh38]
Chr1:98015303 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409049] |
Chr1:97305283 [GRCh38]
Chr1:97770839 [GRCh37]
Chr1:1p21.3 |
pathogenic|likely pathogenic |
| NM_001160301.1(DPYD):c.208C>T (p.Arg70Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409115] |
Chr1:97828139 [GRCh38]
Chr1:98293695 [GRCh37]
Chr1:1p21.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 1p21.3(chr1:96800847-97758063)x1 |
copy number loss |
See cases [RCV000133753] |
Chr1:96800847..97758063 [GRCh38]
Chr1:97266403..98223619 [GRCh37]
Chr1:97038991..97996207 [NCBI36]
Chr1:1p21.3 |
uncertain significance |
| GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 |
copy number loss |
See cases [RCV000135333] |
Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3 |
pathogenic |
| GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 |
copy number gain |
See cases [RCV000135654] |
Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1 |
pathogenic |
| GRCh38/hg38 1p21.3(chr1:97200180-97877546)x1 |
copy number loss |
See cases [RCV000135777] |
Chr1:97200180..97877546 [GRCh38]
Chr1:97665736..98343102 [GRCh37]
Chr1:97438324..98115690 [NCBI36]
Chr1:1p21.3 |
benign|uncertain significance |
| GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1 |
copy number loss |
See cases [RCV000137528] |
Chr1:96124445..99094525 [GRCh38]
Chr1:96590001..99560081 [GRCh37]
Chr1:96362589..99332669 [NCBI36]
Chr1:1p21.3 |
uncertain significance |
| GRCh38/hg38 1p21.3(chr1:97835065-98270737)x1 |
copy number loss |
See cases [RCV000141709] |
Chr1:97835065..98270737 [GRCh38]
Chr1:98300621..98736293 [GRCh37]
Chr1:98073209..98508881 [NCBI36]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.61C>T (p.Arg21Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000169198] |
Chr1:97883353 [GRCh38]
Chr1:98348909 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2043_2058del (p.Leu682fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000169225] |
Chr1:97373561..97373576 [GRCh38]
Chr1:97839117..97839132 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1538C>G (p.Ala513Gly) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000385960] |
Chr1:97515928 [GRCh38]
Chr1:97981484 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1475C>T (p.Ser492Leu) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000393255] |
Chr1:97549609 [GRCh38]
Chr1:98015165 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*1046C>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000260079] |
Chr1:97077930 [GRCh38]
Chr1:97543486 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2193C>T (p.Gly731=) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000304017] |
Chr1:97305365 [GRCh38]
Chr1:97770921 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1614C>T (p.Ala538=) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000295233] |
Chr1:97515852 [GRCh38]
Chr1:97981408 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2632A>G (p.Ser878Gly) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000299078] |
Chr1:97098623 [GRCh38]
Chr1:97564179 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.-112A>G |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000273493] |
Chr1:97921034 [GRCh38]
Chr1:98386590 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2180-11G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000264093] |
Chr1:97305389 [GRCh38]
Chr1:97770945 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1349C>G (p.Ala450Gly) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000286722] |
Chr1:97549735 [GRCh38]
Chr1:98015291 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1525-9A>G |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000282171] |
Chr1:97515950 [GRCh38]
Chr1:97981506 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1048T>C (p.Ser350Pro) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000366115] |
Chr1:97593298 [GRCh38]
Chr1:98058854 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) |
single nucleotide variant |
not provided [RCV000224513]|not specified [RCV000249889] |
Chr1:97679170 [GRCh38]
Chr1:98144726 [GRCh37]
Chr1:1p21.3 |
benign|likely benign |
| NM_000110.3(DPYD):c.2186C>T (p.Ala729Val) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000358751] |
Chr1:97305372 [GRCh38]
Chr1:97770928 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1651G>A (p.Ala551Thr) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000325744]|not specified [RCV000523466] |
Chr1:97515815 [GRCh38]
Chr1:97981371 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1525-11G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000337313] |
Chr1:97515952 [GRCh38]
Chr1:97981508 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.995G>A (p.Arg332Gln) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000307854] |
Chr1:97593351 [GRCh38]
Chr1:98058907 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.474T>C (p.Phe158=) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000331937] |
Chr1:97721519 [GRCh38]
Chr1:98187075 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2071G>T (p.Val691Leu) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000328584] |
Chr1:97306285 [GRCh38]
Chr1:97771841 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*783G>T |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000265933] |
Chr1:97078193 [GRCh38]
Chr1:97543749 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2528T>C (p.Ile843Thr) |
single nucleotide variant |
not specified [RCV000521908] |
Chr1:97193163 [GRCh38]
Chr1:97658719 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*432T>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000296715] |
Chr1:97078544 [GRCh38]
Chr1:97544100 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*274T>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000396249] |
Chr1:97078702 [GRCh38]
Chr1:97544258 [GRCh37]
Chr1:1p21.3 |
likely benign |
| NM_000110.3(DPYD):c.1774C>T (p.Arg592Trp) |
single nucleotide variant |
not specified [RCV000280781] |
Chr1:97450190 [GRCh38]
Chr1:97915746 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000671369]|not specified [RCV000281091] |
Chr1:97234991 [GRCh38]
Chr1:97700547 [GRCh37]
Chr1:1p21.3 |
likely benign|uncertain significance |
| NM_000110.3(DPYD):c.*586C>T |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000345431] |
Chr1:97078390 [GRCh38]
Chr1:97543946 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2758A>C (p.Thr920Pro) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000400560]|not provided [RCV000711507] |
Chr1:97098497 [GRCh38]
Chr1:97564053 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1027A>T (p.Thr343Ser) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000401072] |
Chr1:97593319 [GRCh38]
Chr1:98058875 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1580C>T (p.Pro527Leu) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000331526] |
Chr1:97515886 [GRCh38]
Chr1:97981442 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1220A>G (p.Gln407Arg) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000401841] |
Chr1:97573879 [GRCh38]
Chr1:98039435 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*242G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000293285] |
Chr1:97078734 [GRCh38]
Chr1:97544290 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.-122C>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000319215] |
Chr1:97921044 [GRCh38]
Chr1:98386600 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.-108T>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000368032] |
Chr1:97921030 [GRCh38]
Chr1:98386586 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*282A>G |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000351688] |
Chr1:97078694 [GRCh38]
Chr1:97544250 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2525G>T (p.Ser842Ile) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000352966] |
Chr1:97193166 [GRCh38]
Chr1:97658722 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*193A>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000338881] |
Chr1:97078783 [GRCh38]
Chr1:97544339 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1340-14A>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000341738] |
Chr1:97549758 [GRCh38]
Chr1:98015314 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*665G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000290469] |
Chr1:97078311 [GRCh38]
Chr1:97543867 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.*852C>T |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000379109] |
Chr1:97078124 [GRCh38]
Chr1:97543680 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1243G>T (p.Glu415Ter) |
single nucleotide variant |
not provided [RCV000579165] |
Chr1:97573856 [GRCh38]
Chr1:98039412 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.127_134del (p.Lys42_Arg43insTer) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000591104]|not provided [RCV000727535] |
Chr1:97883280..97883287 [GRCh38]
Chr1:98348836..98348843 [GRCh37]
Chr1:1p21.3 |
pathogenic|likely pathogenic |
| NM_000110.3(DPYD):c.2680A>T (p.Lys894Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409198] |
Chr1:97098575 [GRCh38]
Chr1:97564131 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1518del (p.Lys505_Tyr506insTer) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000409377] |
Chr1:97549566 [GRCh38]
Chr1:98015122 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1681C>T (p.Arg561Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409394]|not provided [RCV000760487] |
Chr1:97515785 [GRCh38]
Chr1:97981341 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1863G>A (p.Trp621Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409426] |
Chr1:97450101 [GRCh38]
Chr1:97915657 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.851-1G>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409515] |
Chr1:97595167 [GRCh38]
Chr1:98060723 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.322-1G>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409647] |
Chr1:97721672 [GRCh38]
Chr1:98187228 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2335_2338delinsGC (p.Thr779fs) |
indel |
Dihydropyrimidine dehydrogenase deficiency [RCV000409891] |
Chr1:97234956..97234959 [GRCh38]
Chr1:97700512..97700515 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.762+2T>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409929] |
Chr1:97691715 [GRCh38]
Chr1:98157271 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1831G>T (p.Glu611Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410030] |
Chr1:97450133 [GRCh38]
Chr1:97915689 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.523del (p.Ser175fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000410066] |
Chr1:97699508 [GRCh38]
Chr1:98165064 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.680+1G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409534] |
Chr1:97699350 [GRCh38]
Chr1:98164906 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000409638] |
Chr1:97920920 [GRCh38]
Chr1:98386476 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410667] |
Chr1:97699370 [GRCh38]
Chr1:98164926 [GRCh37]
Chr1:1p21.3 |
pathogenic|likely pathogenic |
| NM_000110.3(DPYD):c.1970del (p.Ser657fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000410448] |
Chr1:97382397 [GRCh38]
Chr1:97847953 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.232A>T (p.Arg78Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410763] |
Chr1:97828115 [GRCh38]
Chr1:98293671 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.220C>T (p.Arg74Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000411323] |
Chr1:97828127 [GRCh38]
Chr1:98293683 [GRCh37]
Chr1:1p21.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000110.3(DPYD):c.1109_1110delTA |
microsatellite |
Dihydropyrimidine dehydrogenase deficiency [RCV000411600] |
Chr1:97593236..97593237 [GRCh38]
Chr1:98058792..98058793 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1727del (p.Phe576fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000411893] |
Chr1:97515739 [GRCh38]
Chr1:97981295 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2058+1G>C |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000412376] |
Chr1:97373560 [GRCh38]
Chr1:97839116 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2622+1G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410613] |
Chr1:97193068 [GRCh38]
Chr1:97658624 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1311del (p.Phe438fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000410794] |
Chr1:97573788 [GRCh38]
Chr1:98039344 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.483+1G>T |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410851] |
Chr1:97721509 [GRCh38]
Chr1:98187065 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.150+2T>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000410919] |
Chr1:97883262 [GRCh38]
Chr1:98348818 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2039dup (p.Met680fs) |
duplication |
Dihydropyrimidine dehydrogenase deficiency [RCV000411299] |
Chr1:97373580 [GRCh38]
Chr1:97839136 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2589dup (p.Pro864fs) |
duplication |
Dihydropyrimidine dehydrogenase deficiency [RCV000411332] |
Chr1:97193102 [GRCh38]
Chr1:97658658 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2003del (p.Asn668fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000411454] |
Chr1:97373616 [GRCh38]
Chr1:97839172 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1340-2A>G |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000411699] |
Chr1:97549746 [GRCh38]
Chr1:98015302 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2748del (p.Arg916fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000411760] |
Chr1:97098507 [GRCh38]
Chr1:97564063 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1316del (p.Gly439fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000411796] |
Chr1:97573783 [GRCh38]
Chr1:98039339 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.910del (p.Tyr304fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000411932] |
Chr1:97595107 [GRCh38]
Chr1:98060663 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1524+1G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000412072] |
Chr1:97549559 [GRCh38]
Chr1:98015115 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2554C>T (p.Gln852Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000412100] |
Chr1:97193137 [GRCh38]
Chr1:97658693 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1671del (p.Ser558fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000412205] |
Chr1:97515795 [GRCh38]
Chr1:97981351 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2286_2287insA (p.Gly763fs) |
insertion |
Dihydropyrimidine dehydrogenase deficiency [RCV000412243] |
Chr1:97305271..97305272 [GRCh38]
Chr1:97770827..97770828 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2754del (p.Pro919fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000412342] |
Chr1:97098501 [GRCh38]
Chr1:97564057 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1339+1G>T |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000412433] |
Chr1:97573759 [GRCh38]
Chr1:98039315 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1379dup (p.Leu461fs) |
duplication |
Dihydropyrimidine dehydrogenase deficiency [RCV000409743] |
Chr1:97549705 [GRCh38]
Chr1:98015261 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| GRCh37/hg19 1p21.3(chr1:97545589-97594994)x1 |
copy number loss |
See cases [RCV000446337] |
Chr1:97545589..97594994 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p21.3(chr1:97697334-98471128)x1 |
copy number loss |
See cases [RCV000445954] |
Chr1:97697334..98471128 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NC_000001.11:g.(?_97754673)_(97877131_?)del |
deletion |
Schizophrenia [RCV000416687] |
Chr1:97754673..97877131 [GRCh38]
Chr1:98220229..98342687 [GRCh37]
Chr1:97992817..98115275 [NCBI36]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1905+1G>C |
single nucleotide variant |
Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK [RCV000417164]|capecitabine response - Toxicity/ADR, Metabolism/PK [RCV000417180]|fluorouracil response - Toxicity/ADR, Metabolism/PK [RCV000417142]|tegafur response - Toxicity/ADR, Metabolism/PK [RCV000417181] |
Chr1:97450058 [GRCh38]
Chr1:97915614 [GRCh37]
Chr1:1p21.3 |
drug response |
| NM_000110.3(DPYD):c.2135del (p.Pro712fs) |
deletion |
not provided [RCV000485311] |
Chr1:97306221 [GRCh38]
Chr1:97771777 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_000110.3(DPYD):c.2767-1G>A |
single nucleotide variant |
not provided [RCV000494044] |
Chr1:97082471 [GRCh38]
Chr1:97548027 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| GRCh37/hg19 1p21.3(chr1:98103843-98351211)x1 |
copy number loss |
See cases [RCV000511717] |
Chr1:98103843..98351211 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001160301.1(DPYD):c.187A>G (p.Lys63Glu) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000669112] |
Chr1:97828160 [GRCh38]
Chr1:98293716 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1121del (p.Pro374fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000669120] |
Chr1:97593225 [GRCh38]
Chr1:98058780..98058781 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 |
copy number gain |
See cases [RCV000512354] |
Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2 |
pathogenic |
| NM_001160301.1(DPYD):c.295_298TCAT[1] (p.Phe100fs) |
microsatellite |
Dihydropyrimidine dehydrogenase deficiency [RCV000589260]|fluorouracil response - Other [RCV000786531] |
Chr1:97740411..97740414 [GRCh38]
Chr1:98205967..98205970 [GRCh37]
Chr1:1p21.3 |
pathogenic|drug response |
| NM_000110.3(DPYD):c.1415G>A (p.Ser472Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV000622294] |
Chr1:97549669 [GRCh38]
Chr1:98015225 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.233+1G>T |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000669906] |
Chr1:97828113 [GRCh38]
Chr1:98293669 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.704G>A (p.Arg235Gln) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000671470] |
Chr1:97691775 [GRCh38]
Chr1:98157331 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.3031dup (p.Tyr1011fs) |
duplication |
Dihydropyrimidine dehydrogenase deficiency [RCV000671729] |
Chr1:97079023 [GRCh38]
Chr1:97544578 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1024G>A (p.Asp342Asn) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000665570] |
Chr1:97593322 [GRCh38]
Chr1:98058878 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2872A>G (p.Lys958Glu) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000666781] |
Chr1:97082365 [GRCh38]
Chr1:97547921 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1108A>G (p.Ile370Val) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000668285] |
Chr1:97593238 [GRCh38]
Chr1:98058794 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2178del (p.Gly727fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000666149] |
Chr1:97306178 [GRCh38]
Chr1:97771733..97771734 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2378C>T (p.Thr793Ile) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000674813] |
Chr1:97234916 [GRCh38]
Chr1:97700472 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.632A>G (p.Tyr211Cys) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000670232] |
Chr1:97699399 [GRCh38]
Chr1:98164955 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1775G>A (p.Arg592Gln) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000670381] |
Chr1:97450189 [GRCh38]
Chr1:97915745 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2177_2179+1delAAGG |
microsatellite |
Dihydropyrimidine dehydrogenase deficiency [RCV000670707] |
Chr1:97306176..97306179 [GRCh38]
Chr1:97771731..97771735 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.2722A>T (p.Lys908Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000665415] |
Chr1:97098533 [GRCh38]
Chr1:97564089 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1178del (p.Pro393fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000674165] |
Chr1:97573921 [GRCh38]
Chr1:98039476..98039477 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_001160301.1(DPYD):c.45C>A (p.Ile15=) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000665756] |
Chr1:97883369 [GRCh38]
Chr1:98348925 [GRCh37]
Chr1:1p21.3 |
likely benign |
| NM_000110.3(DPYD):c.2168C>G (p.Ala723Gly) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000665953] |
Chr1:97306188 [GRCh38]
Chr1:97771744 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1538C>T (p.Ala513Val) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000674558] |
Chr1:97515928 [GRCh38]
Chr1:97981484 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2822T>C (p.Val941Ala) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000674560] |
Chr1:97082415 [GRCh38]
Chr1:97547971 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2908-1G>A |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000668315] |
Chr1:97079147 [GRCh38]
Chr1:97544703 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1796T>C (p.Met599Thr) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000665480] |
Chr1:97450168 [GRCh38]
Chr1:97915724 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2579del (p.Gln860fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000666839] |
Chr1:97193112 [GRCh38]
Chr1:97658667..97658668 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1041_1042delTG |
microsatellite |
Dihydropyrimidine dehydrogenase deficiency [RCV000675011] |
Chr1:97593304..97593305 [GRCh38]
Chr1:98058859..98058861 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1070G>A (p.Arg357His) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000666570] |
Chr1:97593276 [GRCh38]
Chr1:98058832 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.763-2A>G |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000667742] |
Chr1:97679184 [GRCh38]
Chr1:98144740 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| GRCh37/hg19 1p21.3(chr1:98031183-98144976)x1 |
copy number loss |
not provided [RCV000684606] |
Chr1:98031183..98144976 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p21.3(chr1:97876522-98103813)x1 |
copy number loss |
not provided [RCV000684605] |
Chr1:97876522..98103813 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p21.3(chr1:97744762-97952905)x1 |
copy number loss |
not provided [RCV000684604] |
Chr1:97744762..97952905 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1180C>T (p.Arg394Trp) |
single nucleotide variant |
not provided [RCV000711503] |
Chr1:97573919 [GRCh38]
Chr1:98039475 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.1654A>G (p.Thr552Ala) |
single nucleotide variant |
not provided [RCV000711505] |
Chr1:97515812 [GRCh38]
Chr1:97981368 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2599C>T (p.Arg867Cys) |
single nucleotide variant |
not provided [RCV000711506] |
Chr1:97193092 [GRCh38]
Chr1:97658648 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.501C>G (p.Phe167Leu) |
single nucleotide variant |
not provided [RCV000711508] |
Chr1:97720909 [GRCh38]
Chr1:98186465 [GRCh37]
Chr1:1p21.3 |
benign |
| NM_000110.3(DPYD):c.1310C>T (p.Ala437Val) |
single nucleotide variant |
not provided [RCV000711504] |
Chr1:97573789 [GRCh38]
Chr1:98039345 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.681-8C>T |
single nucleotide variant |
not provided [RCV000711509] |
Chr1:97691806 [GRCh38]
Chr1:98157362 [GRCh37]
Chr1:1p21.3 |
benign |
| NM_000110.3(DPYD):c.1503G>A (p.Trp501Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000778264] |
Chr1:97549581 [GRCh38]
Chr1:98015137 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p21.3(chr1:97457893-97721488)x3 |
copy number gain |
not provided [RCV000736578] |
Chr1:97457893..97721488 [GRCh37]
Chr1:1p21.3 |
benign |
| GRCh37/hg19 1p21.3(chr1:97686885-98489080)x3 |
copy number gain |
not provided [RCV000736579] |
Chr1:97686885..98489080 [GRCh37]
Chr1:1p21.3 |
benign |
| GRCh37/hg19 1p21.3(chr1:98059803-98079674)x3 |
copy number gain |
not provided [RCV000736580] |
Chr1:98059803..98079674 [GRCh37]
Chr1:1p21.3 |
benign |
| GRCh37/hg19 1p21.3(chr1:98155074-98170206)x1 |
copy number loss |
not provided [RCV000736581] |
Chr1:98155074..98170206 [GRCh37]
Chr1:1p21.3 |
benign |
| GRCh37/hg19 1p21.3(chr1:98251973-98316285)x1 |
copy number loss |
not provided [RCV000736583] |
Chr1:98251973..98316285 [GRCh37]
Chr1:1p21.3 |
benign |
| GRCh37/hg19 1p21.3(chr1:98191375-98327831)x1 |
copy number loss |
not provided [RCV000736582] |
Chr1:98191375..98327831 [GRCh37]
Chr1:1p21.3 |
benign |
| GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 |
copy number gain |
not provided [RCV000749068] |
Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3 |
pathogenic |
| NM_000110.3(DPYD):c.1764del (p.Arg589fs) |
deletion |
Dihydropyrimidine dehydrogenase deficiency [RCV000779011] |
Chr1:97450204 [GRCh38]
Chr1:97915755..97915756 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.658C>T (p.Gln220Ter) |
single nucleotide variant |
Dihydropyrimidine dehydrogenase deficiency [RCV000780216] |
Chr1:97699373 [GRCh38]
Chr1:98164929 [GRCh37]
Chr1:1p21.3 |
likely pathogenic |
| NM_000110.3(DPYD):c.1129-5923C>G |
single nucleotide variant |
capecitabine response - Toxicity/ADR [RCV000786532]|fluorouracil response - Toxicity/ADR [RCV000786533] |
Chr1:97579893 [GRCh38]
Chr1:98045449 [GRCh37]
Chr1:1p21.3 |
drug response |
| NM_001160301.1(DPYD):c.321+15A>C |
single nucleotide variant |
not specified [RCV000781326] |
Chr1:97740377 [GRCh38]
Chr1:98205933 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_001160301.1(DPYD):c.451A>G (p.Asn151Asp) |
single nucleotide variant |
not specified [RCV000781325] |
Chr1:97721542 [GRCh38]
Chr1:98187098 [GRCh37]
Chr1:1p21.3 |
likely benign |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_000110.3(DPYD):c.2179+4A>G |
single nucleotide variant |
not provided [RCV000840718] |
Chr1:97306173 [GRCh38]
Chr1:97771729 [GRCh37]
Chr1:1p21.3 |
likely benign |
| GRCh37/hg19 1p21.3(chr1:98036616-98250754)x3 |
copy number gain |
not provided [RCV000847792] |
Chr1:98036616..98250754 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p21.3(chr1:97646028-98052358)x1 |
copy number loss |
not provided [RCV000849793] |
Chr1:97646028..98052358 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| NM_000110.3(DPYD):c.2983G>T (p.Val995Phe) |
single nucleotide variant |
fluorouracil response - Other [RCV000786704] |
Chr1:97079071 [GRCh38]
Chr1:97544627 [GRCh37]
Chr1:1p21.3 |
drug response |
| NM_000110.3(DPYD):c.1898del (p.Pro633fs) |
deletion |
fluorouracil response - Other [RCV000786628] |
Chr1:97450067 [GRCh38]
Chr1:97915622 [GRCh37]
Chr1:1p21.3 |
drug response |
| GRCh37/hg19 1p21.3(chr1:97757431-97798061)x1 |
copy number loss |
not provided [RCV000847392] |
Chr1:97757431..97798061 [GRCh37]
Chr1:1p21.3 |
pathogenic |
| GRCh37/hg19 1p21.3(chr1:97905533-97985890)x3 |
copy number gain |
not provided [RCV000845600] |
Chr1:97905533..97985890 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
| GRCh37/hg19 1p21.3(chr1:97874956-98098498)x1 |
copy number loss |
not provided [RCV000846559] |
Chr1:97874956..98098498 [GRCh37]
Chr1:1p21.3 |
uncertain significance |
Gene-Chemical Interaction Annotations
