Unique variants in the CYP2D6 gene

CYP2D6 reference haplotypes. Download the current CYP2D6 DRAFT reference haplotype list (ver.2015-07-24).
NOTE: the coding DNA reference sequence represents haplotype CYP2D6*1 which differs from the reference genome sequence (build hg19). For the coding region the differences include c.408C>G, c.886T>C and c.1457C>G.
Information The variants shown are described using the NM_000106.4 transcript reference sequence.

289 entries on 3 pages. Showing entries 1 - 100.
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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     
-?/. 3 _1 c.-1263_-1237A[23] r.= p.= CYP2D6*4M - likely benign g.42528030_42528056T[23] g.42132049dup - - CYP2D6_000114 other alelle *68 like (JF307779.1) PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-?/. 1 _1 c.-1263_-1237A[24] r.= p.= CYP2D6*41X2 - likely benign g.42528030_42528056T[24] g.42132048_42132049dup g.42132028insTT - CYP2D6_000115 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-?/. 1 _1 c.-1263_-1237A[27] r.= p.= CYP2D6*2A - likely benign g.42528030_42528056T[27] g.42132045_42132049dup g.42132028insTTTTT - CYP2D6_000118 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
+/+ 2 _1_1i c.-12843_181-55del r.(=) p.(=) CYP2D6*13A2 - pathogenic g.42526471_42540141del g.42129820_42143490del - - CYP2D6_000237 CYP2D7P1/CYP2D6 hybrid gene, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, GenBank GQ162807, 1 more item - - Germline - - - - - Johan den Dunnen
+/. 2 _1_2 c.-12702_267del r.? p.? CYP2D6*13A1 - pathogenic g.42526471_42540141del g.42129820_42143490del CYP2D7/CYP2D6 hybrid gene - CYP2D6_000236 CYP2D7P1/CYP2D6 hybrid gene, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline - - - - - Johan den Dunnen
+/+ 2 _1_2 c.-12662_307del r.? p.? CYP2D6*13B - pathogenic g.42525798_42539468del g.42129780_42143450del - - CYP2D6_000238 originally called CYP2D6*77, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, GenBank HM641839, 1 more item - - Germline yes - - - - Johan den Dunnen
+/+ 2 _1_3 c.-12027_413del r.? p.? CYP2D6*13C - pathogenic g.42525132_42538825del g.42129043_42142736del CYP2D7/2D6 hybrid gene - CYP2D6_000239 CYP2D7P1/2D6 hybrid gene, originally called CYP2D6*80, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline yes - - - - Johan den Dunnen
+/+ 2 -1_4i, _1_4i c.-11376_667-116del r.? p.? CYP2D6*13D - pathogenic g.42524510_42538211del g.42128434_42142135del CYP2D7/2D6 hybrid gene - CYP2D6_000240 CYP2D7P1/2D6 hybrid gene, originally called CYP2D6*78, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline yes - - - - Johan den Dunnen
+/+ 2 _1_5 c.-11145_782del r.? p.? CYP2D6*13E - pathogenic g.42524323_42538024del g.42128217_42141918del CYP2D7/2D6 hybrid gene - CYP2D6_000241 CYP2D7P1/2D6 hybrid gene, originally called CYP2D6*67, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline yes - - - - Johan den Dunnen
+/+ 2 _1_7 c.-10518_1023del r.? p.? CYP2D6*13F - pathogenic g.42523636_42537348del g.42127538_42141250del CYP2D7/2D6 hybrid gene - CYP2D6_000242 CYP2D7P1/2D6 hybrid gene, originally called CYP2D6*16/CYP2D6*66, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline yes - - - - Johan den Dunnen
+/+ 2 -1_8, _1_8 c.-9893_1194del r.? p.? CYP2D6*13G1 - pathogenic g.42523003_42536715del g.42126940_42140652del CYP2D7/2D6 hybrid gene - CYP2D6_000243 CYP2D7P1/2D6 hybrid gene, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline yes - - - - Johan den Dunnen
+/+ 2 _1_9 c.-9616_1373del r.? p.? CYP2D6*13G2 - pathogenic g.42522940_42536652del g.42126668_42140380del CYP2D7/2D6 hybrid gene - CYP2D6_000244 CYP2D7P1/2D6 hybrid gene, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline yes - - - - Johan den Dunnen
+/+, +/+? 2 _1_9 c.-9558_1431del r.? p.? CYP2D6*13H - pathogenic g.42522660_42536372del g.42126637_42140349del CYP2D7/2D6 hybrid gene - CYP2D6_000245 CYP2D7P1/2D6 hybrid gene, originally called CYP2D6*76, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - - Germline yes - - - - Johan den Dunnen
+/. 2 _1_9_ c.-7283_*658del r.0? p.0? CYP2D6*5 - pathogenic g.42521918_42534076del g.42125913_42138071del CYP2D6 deletion - CYP2D6_000008 12.1 kb deletion (13 kb XbaI allele), CYP2D6D allele, reference haplotype CYP2D6*5 [deleted] Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Steen 1995, OMIM:var0002 - - Germline yes - - - - Johan den Dunnen
-/. 1 _1 c.-4999A>G r.(=) p.(=) - - benign g.42531792T>C g.42135783= - - CYP2D6_000213 - - - - Germline - - - - - Johan den Dunnen
-/. 1 _1 c.-4907G>A r.(=) p.(=) - - benign g.42531700C>T g.42135691= - - CYP2D6_000212 - - - - Germline - - - - - Johan den Dunnen
-/. 1 _1 c.-4599T>C r.(=) p.(=) - - benign g.42531392A>G g.42135383A>G - - CYP2D6_000211 - - - - Germline - - - - - Johan den Dunnen
+/. 1 _1_9_ c.-4582_*3358del r.0 p.0 - - pathogenic g.42519215_42531371del - - - CYP2D6_000210 - - - - Germline - - - - - Johan den Dunnen
-/. 1 _1 c.-1770G= r.= p.= CYP2D6*61 - benign g.42528563T>C g.42132556T>C -1770G>A - CYP2D6_000109 - PubMed: Kramer 2009, GenBank EU530607 - - Germline - - - - - Johan den Dunnen
-/. 4 _1 c.-1770G>A r.= p.= CYP2D6*11, CYP2D6*31, CYP2D6*35B, CYP2D6*68A - benign g.42528563= g.42132556= -1770G>A - CYP2D6_000109 fully sequenced allele, reference haplotype CYP2D6*31, reference haplotype CYP2D6*35B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Skierka 2012, 1 more item - rs1080983 Germline - - - - - Johan den Dunnen
?/. 2 _1 c.-1740C>T r.= p.= CYP2D6*84, CYP2D6*85 - VUS g.42528538G>A g.42132531G>A -1740C>T - CYP2D6_000177 reference haplotype CYP2D6*84, reference haplotype CYP2D6*85 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs58188898 Germline - - - - - Johan den Dunnen
-/. 1 _1 c.-1661_-1660delinsTT r.= p.= CYP2D6*45A - benign g.42528394G>A g.42132387G>A -1601_-1600GA>TT - CYP2D6_000146 reference haplotype CYP2D6*45A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 _1 c.-1584C= r.= p.= CYP2D6*61, CYP2D6*68A - benign, likely benign g.42528377C>G - -1584C, -1584C>G - CYP2D6_000218 1 more item PubMed: Kramer 2009, GenBank EU530606, PubMed: Kramer 2009, GenBank EU530607 - - Germline - - - - - Johan den Dunnen
-/-, -?/., ?/. 26 _1 c.-1584C>G r.= p.= CYP2D6*11, CYP2D6*21A, CYP2D6*21B, CYP2D6*2A, CYP2D6*2AX2, CYP2D6*31, CYP2D6*35A, CYP2D6*35B, 4 more items - benign, likely benign, VUS g.42528382= g.42132375G>C -1584C>G - CYP2D6_000046 fully sequenced allele, reference haplotype CYP2D6*21A; NOTE reference sequence is not CYP2D6*1, 9 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Skierka 2012, 2 more items - rs1080985 Germline no, yes - - - - Johan den Dunnen, Henk Buermans
-/. 71 _1 c.-1548C>G r.= p.= CYP2D6*1(xN);CYP2D6*2(xN), CYP2D6*1(xN);CYP2D6*41(xN), CYP2D6*1;CYP2D6*2, CYP2D6*1;CYP2D6*3, 10 more items - benign g.42528382= g.42132375G>C - - CYP2D6_000046 - IP3 project, submitted - - Germline - - - - - Jesse Swen
?/. 2 _1 c.-1543G>A r.= p.= CYP2D6*45B, CYP2D6*46 - VUS g.42528336C>T - -1543G>A - CYP2D6_000138 2 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs76210340 Germline - - - - - Johan den Dunnen
-?/., ?/. 25 _1 c.-1426C>T r.= p.= CYP2D6*100, CYP2D6*101, CYP2D6*10B, CYP2D6*10D, CYP2D6*21A, CYP2D6*36, CYP2D6*36X2, CYP2D6*47, 11 more items - likely benign, VUS g.42528219G>A g.42132217G>A -1426C>T - CYP2D6_000065 19 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 2 more items - rs28588594 Germline no - - - - Johan den Dunnen, Henk Buermans
-/-, ?/. 4 _1 c.-1298G>A r.= p.= CYP2D6*2L, CYP2D6*45B, CYP2D6*46, CYP2D6*85 - VUS g.42528091C>T - -1298G>A - CYP2D6_000047 4 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs59099247 Germline yes - - - - Johan den Dunnen
-/. 1 _1 c.-1235A= r.= p.= CYP2D6*61 - benign g.42528028C>T - -1235G - CYP2D6_000222 - PubMed: Kramer 2009, GenBank EU530607 - - Germline - - - - - Johan den Dunnen
-/-, -?/., ?/. 61 _1 c.-1235A>G r.= p.= CYP2D6*100, CYP2D6*101, CYP2D6*10B, CYP2D6*10D, CYP2D6*11, CYP2D6*17, CYP2D6*21A, CYP2D6*21B, 33 more items - benign, likely benign, VUS g.42528028= g.42132026T>C -1235A>G - CYP2D6_000026 fully sequenced allele, other alelle *68 like (JF307779.1), reference haplotype CYP2D6*100, 31 more items Beurmans, submitted, Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 5 more items - rs28735595 Germline -, yes - - - - Johan den Dunnen, Henk Buermans
-/- 1 _1 c.-1109C>T r.= p.= CYP2D6*100 - benign g.42527902G>A g.42131900G>A -1109C>T - CYP2D6_000163 reference haplotype CYP2D6*100 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
-?/. 2 _1 c.-1094delA r.= p.= CYP2D6*1 - likely benign g.42527896del g.42131894del - - CYP2D6_000203 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-?/. 2 _1 c.-1094dupA r.= p.= CYP2D6*45A, CYP2D6*45B - likely benign g.42527896dup g.42131894dup -1094_-1093insA - CYP2D6_000143 reference haplotype CYP2D6*45A, reference haplotype CYP2D6*45B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
-/-, -?/. 23 _1 c.-1000G>A r.= p.= CYP2D6*100, CYP2D6*101, CYP2D6*10B, CYP2D6*10D, CYP2D6*36, CYP2D6*36X2, CYP2D6*47, CYP2D6*49, 9 more items - benign, likely benign g.42527793C>T g.42131791C>T -1000A>G, -1000G>A - CYP2D6_000066 other alelle *68 like (JF307779.1), reference haplotype CYP2D6*100, reference haplotype CYP2D6*101, 13 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 2 more items - rs1080989 Germline no - - - - Johan den Dunnen, Henk Buermans
-/- 1 _1 c.-960G>C r.= p.= CYP2D6*109 - benign g.42527753C>G g.42131751C>G -960G>C - CYP2D6_000168 reference haplotype CYP2D6*109 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-840T>A r.= p.= CYP2D6*9 - VUS g.42527633A>T g.42131631A>T - - CYP2D6_000208 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
?/. 1 _1 c.-819C>G r.= p.= CYP2D6*9 - VUS g.42527612G>C g.42131610G>C - - CYP2D6_000207 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-/- 1 _1 c.-750_-749del r.= p.= CYP2D6*2M - benign g.42527548_42527549del g.42131546_42131547del -750_-749delGA - CYP2D6_000055 reference haplotype CYP2D6*2M Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs536645539 Germline yes - - - - Johan den Dunnen
-/., -?/. 2 _1 c.-740C= r.= p.= CYP2D6*61, CYP2D6*68A - benign, likely benign g.42527533A>G g.42131531= -740C - CYP2D6_000220 - PubMed: Kramer 2009, GenBank EU530606, PubMed: Kramer 2009, GenBank EU530607 - - Germline - - - - - Johan den Dunnen
-/-, -/., -?/., ?/. 39 _1 c.-740C>T r.= p.= CYP2D6*11, CYP2D6*17, CYP2D6*21A, CYP2D6*21B, CYP2D6*2A, CYP2D6*2A/*41, CYP2D6*2AX2, CYP2D6*2L, 15 more items - benign, likely benign, VUS g.42527533G= g.42131531G>A -740C>T - CYP2D6_000027 19 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Skierka 2012, 3 more items - rs28624811 Germline yes - - - - Johan den Dunnen, Henk Buermans
-?/. 1 _1 c.-695_-692del r.= p.= CYP2D6*45B - likely benign g.42527487_42527490del g.42131485_42131488del -695_-692delTGTG - CYP2D6_000144 reference haplotype CYP2D6*45B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 _1 c.-678G= r.= p.= CYP2D6*61, CYP2D6*68A - benign, likely benign g.42527471T>C g.42131469= -678G, -678G>A - CYP2D6_000219 - PubMed: Kramer 2009, GenBank EU530606, PubMed: Kramer 2009, GenBank EU530607 - - Germline - - - - - Johan den Dunnen
-/-, -/., -?/. 32 _1 c.-678G>A r.= p.= CYP2D6*11, CYP2D6*21A, CYP2D6*21B, CYP2D6*2A, CYP2D6*2A/*41, CYP2D6*2AX2, CYP2D6*2M, CYP2D6*31, 8 more items - benign, likely benign g.42527471= g.42131469C>T -678G>A - CYP2D6_000028 fully sequenced allele, reference haplotype CYP2D6*21A; NOTE reference sequence is not CYP2D6*1, 10 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Skierka 2012, 3 more items - rs28633410 Germline -, yes - - - - Johan den Dunnen, Henk Buermans
?/. 1 _1 c.-629A>G r.= p.= CYP2D6*21A - VUS g.42527422T>C g.42131420T>C -629A>G - CYP2D6_000125 reference haplotype CYP2D6*21A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-431C>T r.= p.= CYP2D6*35B - VUS g.42527224G>A g.42131222G>A -431C>T - CYP2D6_000128 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs566383351 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-354A>G r.= p.= CYP2D6*35B - VUS g.42527147T>C g.42131145T>C -354A>G - CYP2D6_000126 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs530422334 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-334G>C r.= p.= CYP2D6*35B - VUS g.42527127C>G g.42131125C>G -334G>C - CYP2D6_000127 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-331T>G r.= p.= CYP2D6*35B - VUS g.42527124A>C g.42131122A>C -331T>G - CYP2D6_000129 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs34167214 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-328_-327inv r.= p.= CYP2D6*35B - VUS g.42527120_42527121inv g.42131118_42131119inv -328C>T -327A>G - CYP2D6_000130 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs35534760 Germline - - - - - Johan den Dunnen
-?/. 2 _1 c.-323T>C r.= p.= CYP2D6*2A - likely benign g.42527116A>G g.42131114A>G - - CYP2D6_000157 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
?/. 1 _1 c.-321_-320delinsGG r.= p.= CYP2D6*35B - VUS g.42527113_42527114delinsCC g.42131111_42131112delinsCC -321C>G -320A>G - CYP2D6_000132 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-276_-275delinsTT r.= p.= CYP2D6*35B - VUS g.42527068_42527069delinsAA g.42131066_42131067delinsAA -276C>T -275C>T - CYP2D6_000131 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs34898711 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-272C>T r.= p.= CYP2D6*35B - VUS g.42527065G>A g.42131063G>A -272C>T - CYP2D6_000133 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs35046171 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-268_-267delinsAC r.= p.= CYP2D6*35B - VUS g.42527060_42527061delinsGT g.42131058_42131059delinsGT -268G>A -267G>C - CYP2D6_000134 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs34894147 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-232G>C r.= p.= CYP2D6*35B - VUS g.42527025C>G g.42131023C>G -232G>C - CYP2D6_000135 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs35023634 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-225A>G r.= p.= CYP2D6*35B - VUS g.42527018T>C g.42131016T>C -225A>G - CYP2D6_000136 reference haplotype CYP2D6*35B; CYP2D7 conversion upstream exon 1 (-225 to -431) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs35481113 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-176G>A r.(=) p.(=) CYP2D6*70 - VUS g.42526969C>T g.42130967C>T -176G>A - CYP2D6_000200 reference haplotype CYP2D6*70 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1080993 Germline - - - - - Johan den Dunnen
?/? 1 _1 c.-138A>G r.= p.= CYP2D6*35B - VUS g.42526931T>C g.42130929T>C -138A>G - CYP2D6_000171 reference haplotype CYP2D6*35B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs267608272 Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-98C>T r.(=) p.(=) - - VUS g.42526891G>A g.42130889G>A -98C>T - CYP2D6_000268 no haplotype assigned yet PubMed: Solus 2004 - - Germline - - - - - Johan den Dunnen
-/., -?/. 18 _1 c.-1770G= r.= p.= CYP2D6*2A, CYP2D6*2A/*41, CYP2D6*2AX2, CYP2D6*35A, CYP2D6*41, CYP2D6*41X2 - benign, likely benign g.42528563T>C g.42132561C>T - - CYP2D6_000109 1 more item PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
?/. 1 1 c.-44dupG r.(=) p.(=) - - VUS g.42526841dup g.42130839dup -43insG - CYP2D6_000269 no haplotype assigned yet PubMed: Solus 2004 - - Germline - - - - - Johan den Dunnen
+/+, +/. 15 _1_9_ c.(?_-1)_(*1_?)del r.0, r.0? p.0, p.0? CYP2D6*1;CYP2D6*5, CYP2D6*2;CYP2D6*5, CYP2D6*4;CYP2D6*5, CYP2D6*5, CYP2D6*5;CYP2D6*10, 3 more items - benign (!), pathogenic g.(?_42522575)_(42526794_?)del - CN1, CYP2D6 deletion - CYP2D6_000000 11.5 kb XbaI allele, intermediate metabolizer, no CYP2D6 activity, poor metabolizer IP3 project, submitted, PubMed: Broly 1995, PubMed: Gough 1990, OMIM:var0002, 1 more item - - Germline yes 1/42 cases - - - Johan den Dunnen, Jesse Swen
+/+, +/., +?/. 13 _1_9_ c.(?_-1)_(*1_?)dup r.= p.= CYP2D6*1(xN);CYP2D6*10(xN), CYP2D6*1(xN);CYP2D6*2(xN), CYP2D6*10X2, CYP2D6*1;CYP2D6*41(xN), CYP2D6*1X2, 7 more items - benign (!), likely pathogenic, pathogenic g.(?_42522575)_(42526792_?)dup, g.(?_42522575)_(42526794_?)dup - CN3, CYP2D6 duplicated - CYP2D6_000279 reference haplotype CYP2D6*10X2, ultra-rapid metabolizer, 2 more items Beurmans, submitted, IP3 project, submitted, PubMed: Buermans 2017, Journal: Buermans 2017, 1 more item - - Germline yes - - - - Johan den Dunnen, Henk Buermans, Jesse Swen
-?/. 1 9_ c.(*30_?){0} r.= p.= CYP2D6*10D - likely benign g.(42520826_42522546)delins(425334500_425336259) - - - CYP2D6_000246 reference haplotype CYP2D6*10D, CYP2D7P1-like 3'-flanking region Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - Johan den Dunnen
+/+ 1 _1_9_ c.(?_-1)_(*1_?)[2] r.506del p.Gly169Aspfs*14 CYP2D6*4X2 - pathogenic g.(?_42522576)_(42526793_?)[2] - - - CYP2D6_000000 reference haplotype CYP2D6*4X2; NOTE borders of the duplication to be checked Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - Johan den Dunnen
+/+ 3 _1_9_ c.(?_1)_(1494_?)[N] r.= p.= CYP2D6*17XN, CYP2D6*1XN, CYP2D6*2XN - pathogenic g.(?_42522576)_(42526793_?)[N] - N = 2, 3, 4, 5, 13 - CYP2D6_000000 reference haplotype CYP2D6*17XN, reference haplotype CYP2D6*1XN (N = 2, 3, 4, 5 or 13 copies), 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - Johan den Dunnen
-/. 1 _1 c.-1258A[22] r.= p.= CYP2D6*61 - benign g.42528052_42528056del - 42528030T[22] 42528030T[22] CYP2D6_000223 - PubMed: Kramer 2009, GenBank EU530607 - - Germline - - - - - Johan den Dunnen
-?/. 2 _1 c.-1263_-1237A[20] r.= p.= CYP2D6*1 - likely benign g.42528030_42528056T[20] g.42132048_42132049del g.42132028delTT - CYP2D6_000112 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-/-, -/. 10 _1 c.-1263_-1237A[21] r.= p.= CYP2D6*1, CYP2D6*1B, CYP2D6*1X2, CYP2D6*3A, CYP2D6*41, CYP2D6*9 - benign g.42528030_42528056T[21] g.42132049del - - CYP2D6_000113 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-?/. 5 _1 c.-1263_-1237A[23] r.= p.= CYP2D6*1, CYP2D6*10D, CYP2D6*4M - likely benign g.42528030_42528056T[23] g.42132049dup - - CYP2D6_000114 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-?/. 1 _1 c.-1263_-1237A[24] r.= p.= CYP2D6*41 - likely benign g.42528030_42528056T[24] g.42132048_42132049dup g.42132028insTT - CYP2D6_000115 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-/., -?/. 5 _1 c.-1263_-1237A[25] r.= p.= CYP2D6*17, CYP2D6*35A, CYP2D6*41 - benign, likely benign g.42528030_42528056T[25] g.42132047_42132049dup g.42132028insTTT - CYP2D6_000116 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-/-, -?/. 11 _1 c.-1263_-1237A[26] r.= p.= CYP2D6*2A, CYP2D6*2AX2, CYP2D6*35A - benign, likely benign g.42528030_42528056T[26] g.42132046_42132049dup g.42132028insTTTT - CYP2D6_000117 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-?/. 1 _1 c.-1263_-1237A[27] r.= p.= CYP2D6*2A - likely benign g.42528030_42528056T[27] g.42132045_42132049dup g.42132028insTTTTT - CYP2D6_000118 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
-/-, -?/. 5 _1 c.-1263_-1237A[N] r.= p.= CYP2D6*10B, CYP2D6*21A, CYP2D6*2M, CYP2D6*36X2, CYP2D6*45A - benign, likely benign g.42528030_42528056T[N] - -1258-1237A[N], -1258_-1237 varA - CYP2D6_000000 reference haplotype CYP2D6*10B, reference haplotype CYP2D6*21A, reference haplotype CYP2D6*2M, 2 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs56358138 Germline yes - - - - Johan den Dunnen
-?/. 1 _1 c.1258A[22] r.= p.= CYP2D6*63 - likely benign g.42528052_42528056del - 42528030T[22] - CYP2D6_000223 - PubMed: Kramer 2009, GenBank EU530608 - - Germline - - - - - Johan den Dunnen
-/- 1 1_9 c.= r.= p.= CYP2D6*1 - benign g.= - - - CYP2D6_000000 - PubMed: Buermans 2017, Journal: Buermans 2017 - - Germline - - - - - Henk Buermans
+/+ 1 _1_9_ c.(?_1)_(1494_?)dup{31G>A;408G>C;886C>T;1457G>C} r.= p.= CYP2D6*35X2 - pathogenic g.(?_42522576)_(42526793_?)dup - CYP2D6 duplicated - CYP2D6_000000 reference haplotype CYP2D6*35X2; gene duplicated Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - Johan den Dunnen
?/. 1 _1_9_ c.(?_1)_(1494_?)dup{841_843del} r.(=) p.(=) CYP2D6*9X2 - VUS g.(?_42522576)_(42526793_?)dup - 2615_2617delAAG duplicated - CYP2D6_000000 reference haplotype CYP2D6*9X2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Johan den Dunnen
+/+ 1 _1_9_ c.(?_1)_(1494_?)dup{985+39G>A} r.spl p.? CYP2D6*41X2 - pathogenic g.(?_42522576)_(42526793_?)dup - CYP2D6 duplicated - CYP2D6_000000 - Beurmans, submitted - - Germline yes - - - - Johan den Dunnen
?/. 1 1 c.14C>T r.(?) p.(Ala5Val) CYP2D6*87 - VUS g.42526780G>A g.42130778G>A 14C>T (A5V) - CYP2D6_000174 reference haplotype CYP2D6*87 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs773790593 Germline - - - - - Johan den Dunnen
-/- 1 1 c.18G>A r.(=) p.(Leu6=) CYP2D6*84 - benign g.42526776C>T g.42130774C>T 18G>A - CYP2D6_000191 reference haplotype CYP2D6*84 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs148382141 Germline - - - - - Johan den Dunnen
?/. 1 1 c.19G>A r.(?) p.(Val7Met) CYP2D6*28 - VUS g.42526775C>T g.42130773C>T 19G>A (V7M) - CYP2D6_000083 reference haplotype CYP2D6*28 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72549358 Germline - - - - - Johan den Dunnen
-?/-? 9 1 c.31G>A r.(?) p.(Val11Met) CYP2D6*35, CYP2D6*35A, CYP2D6*35B, CYP2D6*35X2 - likely benign g.42526763C>T g.42130761C>T 31G>A (V11M) - CYP2D6_000087 reference haplotype CYP2D6*35; normal activity, reference haplotype CYP2D6*35A, 2 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - rs769258 Germline - - - - - Johan den Dunnen, Henk Buermans
?/. 2 1 c.73C>T -, r.(?) p.Arg25Trp CYP2D6*47 - NA, VUS g.42526721G>A g.42130719G>A 73C>T, R25W - CYP2D6_000121 reference haplotype CYP2D6*47; negligible activity, 1 more item Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - rs267608313 Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 1 c.74G>A r.(?) p.(Arg25Gln) - - VUS g.42526720C>T g.42130718C>T 74G>A (R25Q) - CYP2D6_000256 no haplotype assigned yet PubMed: Qian 2013 - - Germline - - - - - Johan den Dunnen
-?/-? 2 1 c.77G>A r.77g>a p.Arg26His CYP2D6*43, CYP2D6*46 - likely benign g.42526717C>T g.42130715C>T 77G>A (R26H) - CYP2D6_000031 reference haplotype CYP2D6*43, reference haplotype CYP2D6*46 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs28371696 Germline - - - - - Johan den Dunnen
-?/., ?/. 3 1 c.82C>T r.(?) p.(Arg28Cys) CYP2D6*2/*44, CYP2D6*22, CYP2D6*44 - likely benign, VUS g.42526712G>A g.42130710G>A 82C>T (R28C) - CYP2D6_000077 reference haplotype CYP2D6*22, reference haplotype CYP2D6*44 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Yamazaki 2003 - rs138100349 Germline no - - - - Johan den Dunnen
+/+, +/., +?/., -/., -?/., ?/., ?/? 137 1 c.100C>T -, r.(100c>u), r.(=), r.(?), r.100c>u p.(Pro34Ser), p.Pro34Ser CYP2D6*1(xN);CYP2D6*10(xN), CYP2D6*10, CYP2D6*100, CYP2D6*101, CYP2D6*10A, CYP2D6*10B, CYP2D6*10D, 45 more items - benign, likely benign, likely pathogenic, NA, pathogenic, VUS g.42526694G>A g.42130692G>A 100C>T (P34S), C188T (P34S), P34S - CYP2D6_000009 44 kb XbaI allele, CYP2D6*4, other alelle *68 like (JF307779.1), reference haplotype CYP2D6*100, 45 more items IP3 project, submitted, Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 6 more items - rs1065852 Germline, In vitro (cloned) -, yes - - - - Johan den Dunnen, Andreas Laner, Henk Buermans, Jesse Swen
?/. 1 1 c.102A>G r.(=) p.(Pro34=) CYP2D6*85 - VUS g.42526692T>C g.42130690T>C 102A>G - CYP2D6_000178 reference haplotype CYP2D6*85 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs151226748 Germline - - - - - Johan den Dunnen
+/+, -?/. 2 1 c.124G>A r.(?), r.124g>a p.(Gly42Arg), p.Gly42Arg CYP2D6*12 - likely benign, pathogenic g.42526670C>T g.42130668C>T 124G>A (G42R) - CYP2D6_000021 5 heterozygous, no homozygous; Clinindb (India), reference haplotype CYP2D6*12; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, 1 more item - rs5030862 Germline - 5/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
?/. 1 1 c.125G>A r.(?) p.(Gly42Glu) CYP2D6*71 - VUS g.42526669C>T g.42130667C>T 125G>A (G42E) - CYP2D6_000198 reference haplotype CYP2D6*71 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs118203758 Germline - - - - - Johan den Dunnen
+/+ 1 1 c.137dup r.137dup p.Leu47Alafs*207 CYP2D6*15 - pathogenic g.42526657dup g.42130655dup 137_138insT (46fs) - CYP2D6_000073 reference haplotype CYP2D6*15; no activity Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs774671100 Germline yes - - - - Johan den Dunnen
-/-, -/. 13 1i c.180+34G= r.(=), r.= p.(=), p.= CYP2D6*14B, CYP2D6*2, CYP2D6*2A, CYP2D6*2J1, CYP2D6*2J2, CYP2D6*2J;CYP2D6*59, CYP2D6*2M, CYP2D6*31, 3 more items - benign, NA g.42526580G>C g.42130578= 214G= (1i conversion) - CYP2D6_000224 reference haplotype CYP2D6*14B, reference haplotype CYP2D6*2A, reference haplotype CYP2D6*2M, 7 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Toscano 2006, 3 more items - rs1080995 Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/-, -/. 35 1i c.180+34G>C r.(=), r.= p.(=), p.= CYP2D6*102, CYP2D6*103, CYP2D6*104, CYP2D6*105, CYP2D6*11, CYP2D6*17, CYP2D6*21A, CYP2D6*21B, 14 more items - benign g.42526580= g.42130578C>G 214G>C, 214G>C (1i conversion), 214G>C; con in1 - CYP2D6_000156 fully sequenced allele, reference haplotype CYP2D6*102, reference haplotype CYP2D6*103, 12 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Skierka 2012, 2 more items - rs1080995 Germline - - - - - Johan den Dunnen, Henk Buermans
-/-, -/. 13 1i c.180+41C= r.(=), r.= p.(=), p.= CYP2D6*14B, CYP2D6*2, CYP2D6*2A, CYP2D6*2J1, CYP2D6*2J2, CYP2D6*2J;CYP2D6*59, CYP2D6*2M, CYP2D6*31, 3 more items - benign, NA g.42526573T>G g.42130571= 221C= (1i conversion) - CYP2D6_000225 reference haplotype CYP2D6*14B, reference haplotype CYP2D6*2A, reference haplotype CYP2D6*2M, 7 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Toscano 2006, 3 more items - rs1080996 Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/-, -/. 35 1i c.180+41C>A r.(=), r.= p.(=), p.= CYP2D6*102, CYP2D6*103, CYP2D6*104, CYP2D6*105, CYP2D6*11, CYP2D6*17, CYP2D6*21A, CYP2D6*21B, 14 more items - benign g.42526573= g.42130571G>T 221C>A, 221C>A (1i conversion), 221C>A; con in1 - CYP2D6_000154 fully sequenced allele, reference haplotype CYP2D6*102, reference haplotype CYP2D6*103, 12 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Skierka 2012, 2 more items - rs1080996 Germline - - - - - Johan den Dunnen, Henk Buermans
-/- 13 1i c.180+43C= r.(=), r.= p.(=), p.= CYP2D6*14B, CYP2D6*2, CYP2D6*2A, CYP2D6*2J1, CYP2D6*2J2, CYP2D6*2J;CYP2D6*59, CYP2D6*2M, CYP2D6*31, 3 more items - benign, NA g.42526571C>G g.42130569= 223C= (1i conversion) - CYP2D6_000226 reference haplotype CYP2D6*14B, reference haplotype CYP2D6*2A, reference haplotype CYP2D6*2M, 7 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Toscano 2006, 3 more items - rs74644586 Germline, In vitro (cloned) - - - - - Johan den Dunnen
-/-, -/. 35 1i c.180+43C>G r.(=), r.= p.(=), p.= CYP2D6*102, CYP2D6*103, CYP2D6*104, CYP2D6*105, CYP2D6*11, CYP2D6*17, CYP2D6*21A, CYP2D6*21B, 14 more items - benign g.42526571= g.42130569G>C 223C>G, 223C>G (1i conversion), 223C>G; con in1 - CYP2D6_000153 fully sequenced allele, reference haplotype CYP2D6*102, reference haplotype CYP2D6*103, 12 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Skierka 2012, 2 more items - rs74644586 Germline - - - - - Johan den Dunnen, Henk Buermans
-/-, -/. 13 1i c.180+47T= r.(=), r.= p.(=), p.= CYP2D6*14B, CYP2D6*2, CYP2D6*2A, CYP2D6*2J1, CYP2D6*2J2, CYP2D6*2J;CYP2D6*59, CYP2D6*2M, CYP2D6*31, 3 more items - benign, NA g.42526567G>A g.42130565= 227T= (1i conversion) - CYP2D6_000227 reference haplotype CYP2D6*14B, reference haplotype CYP2D6*2A, reference haplotype CYP2D6*2M, 7 more items Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee, PubMed: Toscano 2006, 3 more items - rs76312385 Germline, In vitro (cloned) - - - - - Johan den Dunnen
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