Unique variants in the DPYD gene

Information The variants shown are described using the NM_000110.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-1427187_*543783del r.? p.? - - pathogenic g.97000749_99813665del g.96535193_99348109del - - DPYD_000018 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.-463957_*3733049del r.? p.? - - pathogenic g.93811483_98850435del - - - DPYD_000017 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 2 8i_12i c.[850+31531_1525-15893inv;1525-15892_1525-15889del] r.?, r.spl p.? - - pathogenic (recessive) g.[97997390_98113120inv;97997386_97997389del] - g.[98113121_97997390inv;97997386_97997389del] - DPYD_000030 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - - - Johan den Dunnen, Maja Tarailo-Graovac
-?/. 1 - c.5C>T r.(?) p.(Ala2Val) - - likely benign g.98386474G>A - DPYD(NM_000110.3):c.5C>T (p.A2V) - DPYD_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.37G>A r.(?) p.(Glu13Lys) - - likely benign g.98386442C>T - DPYD(NM_000110.3):c.37G>A (p.E13K) - DPYD_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 2 c.62G>A r.62g>a p.Arg21Gln DPYD*12 - likely pathogenic g.98348908C>T g.97883352C>T G62A (R21Q) - DPYD_000014 reference haplotype DPYD*12 [62G>A; 1156G>T] PubMed: Mattison 2002 - rs80081766 Germline - - - - - Johan den Dunnen
-?/. 1 - c.73C>T r.(?) p.(His25Tyr) - - likely benign g.98348897G>A g.97883341G>A DPYD(NM_000110.3):c.73C>T (p.H25Y) - DPYD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.85= r.(=) p.(Cys29=) - - benign g.98348885G>A - DPYD(NM_000110.3):c.85C>T (p.R29C) - DPYD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/+?, +?/., -?/. 5 2 c.85C= -, r.(=), r.85c= p.Arg29= DPYD*9A, DPYD*9B - likely benign, likely pathogenic, NA, pathogenic g.98348885=, g.98348885G= - T85C - DPYD_000000 5 more items PubMed: Johnson 2002, PubMed: McLeod 1998, PubMed: Vreken 1997 - - Germline, In vitro (cloned), Unknown -, yes - - - - Johan den Dunnen
-/-, ?/. 3 2 c.85C>T r.85c>u p.Arg29Cys DPYD*1 - benign, VUS g.98348885G>A g.97883329G>A - - DPYD_000011 2 more items PubMed: McLeod 1998, PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs1801265 Germline - - - - - Johan den Dunnen
+/+?, +/. 2 4 c.299_302del r.(?), r.299_302del p.(Phe100SerfsTer15), p.Phe100Serfs*15 DPYD*7 - pathogenic g.98205971_98205974del g.97740415_97740418del delTCAT295-298, DPYD(NM_000110.3):c.299_302delTCAT (p.F100Sfs*15) - DPYD_000009 reference haplotype DPYD*7 [299_302del], VKGL data sharing initiative Nederland PubMed: McLeod 1998 - rs72549309 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
-?/. 1 - c.465G>A r.(?) p.(Leu155=) - - likely benign g.98187084C>T g.97721528C>T DPYD(NM_000110.3):c.465G>A (p.L155=) - DPYD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.484-5C>T r.spl? p.? - - likely benign g.98165108G>A g.97699552G>A DPYD(NM_000110.3):c.484-5C>T (p.?) - DPYD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/., ./., ?/. 20 6 c.496A>G r.(?), r.496a>g p.(Met166Val), p.Met166Val - - benign, likely benign, VUS g.98165091T>C g.97699535T>C A496G (M166V), DPYD(NM_000110.3):c.496A>G (p.M166V), M166V - DPYD_000002 normal enzyme activity (PBM cells), VKGL data sharing initiative Nederland PubMed: Bell 2011, PubMed: Johnson 2002, PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - CLASSIFICATION record, Germline, Unknown -, no - - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Groningen
-?/., ?/. 3 - c.557A>G r.(?) p.(Tyr186Cys) - - likely benign, VUS g.98165030T>C g.97699474T>C DPYD(NM_000110.3):c.557A>G (p.Y186C) - DPYD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Groningen, VKGL-NL_Utrecht
+?/+? 1 7 c.703C>T r.703c>u p.Arg235Trp DPYD*8 - likely pathogenic g.98157332G>A g.97691776G>A C703T - DPYD_000010 reference haplotype DPYD*8 [703C>T] PubMed: McLeod 1998 - rs1801266 Germline - - - - - Johan den Dunnen
?/. 1 - c.731A>C r.(?) p.(Glu244Ala) - - VUS g.98157304T>G g.97691748T>G DPYD(NM_000110.3):c.731A>C (p.E244A) - DPYD_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.768T>G r.(?) p.(Ile256Met) - - VUS g.98144733A>C g.97679177A>C DPYD(NM_000110.3):c.768T>G (p.(Ile256Met)) - DPYD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/., ?/. 3 - c.775A>G r.(?) p.(Lys259Glu) - - benign, likely benign, VUS g.98144726T>C g.97679170T>C DPYD(NM_000110.3):c.775A>G (p.K259E) - DPYD_000043 21 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs45589337 CLASSIFICATION record, Germline - 21/2773 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mohammed Faruq
?/. 1 10 c.1003G>T r.1003g>u p.Val335Leu DPYD*11 - VUS g.98058899C>A g.97593343C>A G1003T (V335L) - DPYD_000013 reference haplotype DPYD*11 [1003G>T] PubMed: Mattison 2002 - rs72549306 Germline - - - - - Johan den Dunnen
-/. 1 - c.1129-15T>C r.(=) p.(=) - - benign g.98039541A>G g.97573985A>G DPYD(NM_000110.3):c.1129-15T>C - DPYD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1140T>C r.(?) p.(Ala380=) - - likely benign g.98039515A>G g.97573959A>G DPYD(NM_000110.3):c.1140T>C (p.A380=) - DPYD_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 11 c.1156G>T r.1156g>u p.Glu386* DPYD*12 - pathogenic g.98039499C>A g.97573943C>A G1156T (E386X) - DPYD_000015 reference haplotype DPYD*12 [62G>A; 1156G>T] PubMed: Mattison 2002 - rs78060119 Germline - - - - - Johan den Dunnen
?/. 1 - c.1210G>T r.(?) p.(Val404Phe) - - VUS g.98039445C>A g.97573889C>A DPYD(NM_000110.3):c.1210G>T (p.V404F) - DPYD_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1217T>C r.(?) p.(Met406Thr) - - VUS g.98039438A>G g.97573882A>G DPYD(NM_000110.3):c.1217T>C (p.M406T) - DPYD_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+, +/., -/. 12 11 c.1236G>A r.(=), r.spl? p.(=), p.(Glu412=) DPYD 1236GA - benign, benign (!), benign (!) , pathogenic g.98039419C>T g.97573863C>T E412E, Glu412Glu - DPYD_000019 3 homozygous; Clinindb (India), 71 heterozygous; Clinindb (India), 3 more items IP3 project, submitted, PubMed: Henricks 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs56038477 Germline, SUMMARY record - 3/2795 individuals, 51/1103 patients, 71/2795 individuals - - - Johan den Dunnen, Jesse Swen, Mohammed Faruq
+/. 1 - c.1256G>A r.(?) p.(Trp419Ter) - - pathogenic g.98039399C>T g.97573843C>T DPYD(NM_000110.3):c.1256G>A (p.W419*) - DPYD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1360A>G r.(?) p.(Ile454Val) - - likely benign g.98015280T>C - DPYD(NM_000110.3):c.1360A>G (p.I454V) - DPYD_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1475C>T r.(?) p.(Ser492Leu) - - VUS g.98015165G>A g.97549609G>A - - DPYD_000053 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72549304 Germline - 1/2795 individuals - - - Mohammed Faruq
-/-, -/., ?/. 9 13 c.1601G>A r.(?), r.1601g>a p.(Ser534Asn), p.Ser534Asn DPYD*4 - benign, VUS g.97981421C>T g.97515865C>T DPYD(NM_000110.3):c.1601G>A (p.S534N), G1601A - DPYD_000003 conflicting interpretations of pathogenicity; 51 heterozygous, no homozygous; Clinindb (India), 2 more items PubMed: McLeod 1998, PubMed: Narang 2020, Journal: Narang 2020 - rs1801158 CLASSIFICATION record, Germline - 51/2795 individuals - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq
?/. 1 - c.1615G>A r.(?) p.(Gly539Arg) - - VUS g.97981407C>T - DPYD(NM_000110.3):c.1615G>A (p.G539R) - DPYD_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -/. 3 13 c.1627A= r.(=), r.1627a= p.(Ile543=), p.Ile543= DPYD*2A - benign g.97981395T= - - - DPYD_000000 2 more items PubMed: Johnson 2002, PubMed: McLeod 1998 - - Germline, Unknown -, yes - - - - Johan den Dunnen
-/., -?/-?, ?/. 30 13 c.1627A>G r.(?), r.1627a>g p.(Ile543Val), p.Ile543Val DPYD*2B, DPYD*5 - benign, likely benign, VUS g.97981395T>C g.97515839T>C A1627G, DPYD(NM_000110.3):c.1627A>G (p.I543V) - DPYD_000001 mixed haplotype DPYD*5/*6; haplotype assignment requested, VKGL data sharing initiative Nederland, 2 more items pers. comm., PubMed: McLeod 1998 - rs1801159 CLASSIFICATION record, Germline, Unknown - - - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.1675A>G r.(?) p.(Met559Val) - - VUS g.97981347T>C g.97515791T>C DPYD(NM_000110.3):c.1675A>G (p.M559V) - DPYD_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/., +?/. 8 13 c.1679T>G r.(?) p.(Ile560Ser) DPYD*13 - benign (!), likely pathogenic, pathogenic g.97981343A>C g.97515787A>C DPYD(NM_000110.3):c.1679T>G (p.I560S), I560S - DPYD_000016 reference haplotype DPYD*13 [1679T>G]; no activity, VKGL data sharing initiative Nederland, 1 more item PubMed: Henricks 2018, PubMed: Johnson 2002 - rs55886062 CLASSIFICATION record, Germline, SUMMARY record -, yes 1/1103 patients - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+?/. 2 13 c.1700G>A r.(?) p.(Gly567Glu) - - likely pathogenic g.97981322C>T g.97515766C>T - - DPYD_000031 no DPD activity in cultured fibroblasts at 37oC PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1740+2T>C r.spl? p.? - - pathogenic g.97981280A>G g.97515724A>G DPYD(NM_000110.3):c.1740+2T>C - DPYD_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1774C>T r.(?) p.(Arg592Trp) - - VUS g.97915746G>A - DPYD(NM_000110.3):c.1774C>T (p.R592W) - DPYD_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1896T>C r.(=) p.(=) - - likely benign g.97915624A>G g.97450068A>G - - DPYD_000052 204 heterozygous; Clinindb (India), 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17376848 Germline - 204/2795 individuals, 4/2795 individuals - - - Mohammed Faruq
+/+, +/. 3 14 c.1898del r.1898del p.Pro633Glnfs*5 DPYD*3 - pathogenic g.97915623del g.97450067del delC1897 - DPYD_000008 other deleterious variant on maternal allele expected but not identified, reduced RNA stability (NMD), 1 more item PubMed: McLeod 1998, PubMed: Vreken 1997 - rs72549303 Germline, Unknown -, ? <0.008 - - - Johan den Dunnen
-/- 2 14i c.1905+1G= r.= p.= DPYD*5 - benign g.97915614C= - - - DPYD_000000 2 more items pers. comm., PubMed: McLeod 1998 - - Germline, Unknown - - - - - Johan den Dunnen
+/+, +/., ./., ?/. 23 14i c.1905+1G>A r.(1741_1905del), r.1741_1905del, r.spl, r.spl? p.(Asp581_Asn635del), p.(D581_N635del), p.?, p.Asp581_Asn635del DPYD*1/*2A, DPYD*2A, DPYD*2B ACMG benign (!), pathogenic, pathogenic (recessive), VUS g.97915614C>T g.97450058C>T DPYD(NM_000110.3):c.1905+1G>A, IVS14 G1A, IVS14+1G>A - DPYD_000006 drug response; 19 heterozygous, no homozygous; Clinindb (India), 5 more items IP3 project, submitted, PubMed: Henricks 2018, PubMed: Johnson 1999, PubMed: Johnson 2002, 7 more items - rs3918290 CLASSIFICATION record, Germline, SUMMARY record, Unknown -, ?, yes 16/1103 patients, 19/2795 individuals MaeII- - - Johan den Dunnen, Zdenek Kleibl, VKGL-NL_Rotterdam, Maja Tarailo-Graovac, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Jesse Swen, Mohammed Faruq
?/. 2 - c.1925T>C r.(?) p.(Met642Thr) - - VUS g.97847998A>G g.97382442A>G DPYD(NM_000110.3):c.1925T>C (p.M642T) - DPYD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.2058+1G>T r.spl? p.? - - VUS g.97839116C>A - DPYD(NM_000110.3):c.2058+1G>T - DPYD_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2071G>T r.(?) p.(Val691Leu) - - VUS g.97771841C>A - DPYD(NM_000110.3):c.2071G>T (p.V691L) - DPYD_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2121dup r.(?) p.(Ala708Cysfs*9) - - likely pathogenic g.97771797dup - DPYD(NM_000110.3):c.2121dupT (p.A708Cfs*9) - DPYD_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2161G>A r.(?) p.(Ala721Thr) - - VUS g.97771751C>T g.97306195C>T DPYD(NM_000110.3):c.2161G>A (p.A721T) - DPYD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2180-9C>T r.(=) p.(=) - - likely benign g.97770943G>A - DPYD(NM_000110.3):c.2180-9C>T - DPYD_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2189A>G r.(?) p.(Asn730Ser) - - likely benign g.97770925T>C - DPYD(NM_000110.3):c.2189A>G (p.N730S) - DPYD_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/-? 3 18 c.2194G>A r.(?), r.219g>a p.(Val732Ile), p.Val732Ile DPYD*6 - benign, likely benign g.97770920C>T g.97305364C>T 2194C>T, DPYD(NM_000110.3):c.2194G>A (p.V732I), DPYD-AS1(NR_046590.1):n.129-825C>T - DPYD_000007 mixed haplotype DPYD*5/*6, haplotype assignment requested, reference haplotype DPYD*6 [2194G>A], 1 more item pers. comm., PubMed: McLeod 1998 - rs1801160 CLASSIFICATION record, Germline, Unknown - - - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.2195T>G r.(?) p.(Val732Gly) - - VUS g.97770919A>C g.97305363A>C DPYD(NM_000110.3):c.2195T>G (p.V732G) - DPYD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2279C>T r.(?) p.(Thr760Ile) - - likely benign g.97770835G>A g.97305279G>A DPYD(NM_000110.3):c.2279C>T (p.T760I) - DPYD_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2303C>A r.(?) p.(Thr768Lys) - - VUS g.97700547G>T g.97234991G>T DPYD(NM_000110.3):c.2303C>A (p.T768K) - DPYD_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2405G>T r.(?) p.(Gly802Val) - - VUS g.97700445C>A g.97234889C>A DPYD(NM_000110.3):c.2405G>T (p.G802V) - DPYD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2434G>A r.(?) p.(Val812Ile) - - VUS g.97700416C>T g.97234860C>T - - DPYD_000051 - - - rs371313778 Germline - - - - - Nedal Bukhari
?/. 2 - c.2494A>G r.(?) p.(Thr832Ala) - - VUS g.97658753T>C g.97193197T>C DPYD(NM_000110.3):c.2494A>G (p.T832A, p.(Thr832Ala)) - DPYD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.2551G>A r.(?) p.(Gly851Arg) - - VUS g.97658696C>T - DPYD(NM_000110.3):c.2551G>A (p.G851R) - DPYD_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2567C>T r.(?) p.(Thr856Ile) - - likely benign, VUS g.97658680G>A g.97193124G>A DPYD(NM_000110.3):c.2567C>T (p.T856I, p.(Thr856Ile)) - DPYD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.2590C>G r.(?) p.(Pro864Ala) - - VUS g.97658657G>C g.97193101G>C DPYD(NM_000110.3):c.2590C>G (p.(Pro864Ala)) - DPYD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2623A>C r.(?) p.(Lys875Gln) - - likely benign g.97564188T>G g.97098632T>G DPYD(NM_000110.3):c.2623A>C (p.K875Q) - DPYD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -?/. 3 21 c.2657G= r.(=), r.2657g= p.Arg886= DPYD*1, DPYD*9A - benign, likely benign g.97564154C= - - - DPYD_000000 3 more items PubMed: Johnson 2002, PubMed: McLeod 1998 - - Germline, Unknown - - - - - Johan den Dunnen
+/., +?/., ?/? 3 21 c.2657G>A r.(?), r.2657g>a p.Arg886His DPYD*9B - likely pathogenic, NA, VUS g.97564154C>T g.97098598C>T G2657A, G2758A (R886H) - DPYD_000000 expression cloning no detecable DPD activity, 1 more item PubMed: McLeod 1998, PubMed: Vreken 1997 - rs1801267 Germline, In vitro (cloned), Unknown -, yes - - - - Johan den Dunnen
?/. 1 - c.2807G>A r.(?) p.(Gly936Asp) - - VUS g.97547986C>T g.97082430C>T - - DPYD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +?/., ?/. 13 22 c.2846A>T r.(2846a>u), r.(?) p.(Asp949Val) DPYD 2846AT - benign (!), likely pathogenic, pathogenic, VUS g.97547947T>A g.97082391T>A DPYD(NM_000110.3):c.2846A>T (p.D949V) - DPYD_000004 drug response; 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 3 more items IP3 project, submitted, PubMed: Henricks 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs67376798 CLASSIFICATION record, Germline, SUMMARY record - 17/1103 patients, 2/2789 individuals - - - Gerard C.P. Schaafsma, Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Jesse Swen, Mohammed Faruq
-?/. 1 - c.2931C>G r.(?) p.(Thr977=) - - likely benign g.97544679G>C g.97079123G>C DPYD(NM_000110.3):c.2931C>G (p.T977=) - DPYD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 23 c.2983G>T r.2983g>t p.Val995Phe DPYD*10 - likely pathogenic g.97544627C>A g.97079071C>A G2983T - DPYD_000012 reference haplotype DPYD*10 [2983G>T] PubMed: McLeod 1998 - rs1801268 Germline - - - - - Johan den Dunnen
?/. 1 - c.2998G>A r.(?) p.(Asp1000Asn) - - VUS g.97544612C>T g.97079056C>T DPYD(NM_000110.3):c.2998G>A (p.D1000N) - DPYD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3052C>G r.(?) p.(Pro1018Ala) - - likely benign g.97544558G>C g.97079002G>C DPYD(NM_000110.3):c.3052C>G (p.P1018A) - DPYD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.3067C>T r.(?) p.(Pro1023Ser) - - likely pathogenic g.97544543G>A - - - DPYD_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3074_3076dup r.(?) p.(Ter1026CysextTer1) - - VUS g.97544535_97544537dup g.97078979_97078981dup DPYD(NM_000110.3):c.3074_3076dupGTT (p.C1025dup) - DPYD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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