All variants in the CYP2B6 gene

Information The variants shown are described using the NM_000767.4 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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Effect     

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.-2320T>C r.= p.= CYP2B6*4B - likely benign g.41494891T>C g.40988986T>C -2320T>C - CYP2B6_000001 reference allele CYP2B6*4B - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-2320T>C r.= p.= CYP2B6*1B - likely benign g.41494891T>C g.40988986T>C -2320T>C - CYP2B6_000001 reference allele CYP2B6*1B - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-2320T>C r.= p.= CYP2B6*1C - likely benign g.41494891T>C g.40988986T>C -2320T>C - CYP2B6_000001 reference allele CYP2B6*1C - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-2320T>C r.= p.= CYP2B6*1H - likely benign g.41494891T>C g.40988986T>C -2320T>C - CYP2B6_000001 reference allele CYP2B6*1H - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-2320T>C r.= p.= CYP2B6*1J - likely benign g.41494891T>C g.40988986T>C -2320T>C - CYP2B6_000001 reference allele CYP2B6*1J - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-2320T>C r.= p.= CYP2B6*5B - likely benign g.41494891T>C g.40988986T>C -2320T>C - CYP2B6_000001 reference allele CYP2B6*5B - - - Germline - - - 0 - Johan den Dunnen
./. _1 c.-1972C>T r.= p.= CYP2B6*1K - - g.41495239C>T g.40989334C>T - - CYP2B6_000012 reference allele CYP2B6*1K - - rs1962261 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1848C>A r.= p.= CYP2B6*22 - likely benign g.41495363C>A g.40989458C>A - - CYP2B6_000222 reference allele CYP2B6*22 - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1778A>G r.= p.= CYP2B6*4B - likely benign g.41495433A>G g.40989528A>G - - CYP2B6_000004 reference allele CYP2B6*4B - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1778A>G r.= p.= CYP2B6*1D - likely benign g.41495433A>G g.40989528A>G -1778A>G - CYP2B6_000004 reference allele CYP2B6*1D - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1778A>G r.= p.= CYP2B6*1J - likely benign g.41495433A>G g.40989528A>G -1778A>G - CYP2B6_000004 reference allele CYP2B6*1J - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1578C>T r.= p.= CYP2B6*1E - likely benign g.41495633C>T g.40989728C>T - - CYP2B6_000007 reference allele CYP2B6*1E - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1578C>T r.= p.= CYP2B6*1K - likely benign g.41495633C>T g.40989728C>T - - CYP2B6_000007 reference allele CYP2B6*1K - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1578C>T r.= p.= CYP2B6*1L - likely benign g.41495633C>T g.40989728C>T - - CYP2B6_000007 reference allele CYP2B6*1L - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1578C>T r.= p.= CYP2B6*1M - likely benign g.41495633C>T g.40989728C>T - - CYP2B6_000007 reference allele CYP2B6*1M - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1456T>C r.= p.= CYP2B6*1N - - g.41495755T>C g.40989850T>C - - CYP2B6_000013 reference allele CYP2B6*1N - - rs2054675 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1456T>C r.= p.= CYP2B6*4D - likely benign g.41495755T>C g.40989850T>C -1456T>C - CYP2B6_000013 reference allele CYP2B6*4D - - rs2054675 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1456T>C r.= p.= CYP2B6*6B - likely benign g.41495755T>C g.40989850T>C -1456T>C - CYP2B6_000013 reference allele CYP2B6*6B - - rs2054675 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1456T>C r.= p.= CYP2B6*6C - likely benign g.41495755T>C g.40989850T>C -1456T>C - CYP2B6_000013 reference allele CYP2B6*6C - - rs2054675 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1456T>C r.= p.= CYP2B6*7B - likely benign g.41495755T>C g.40989850T>C -1456T>C - CYP2B6_000013 reference allele CYP2B6*7B - - rs2054675 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1224A>G r.= p.= CYP2B6*1F - likely benign g.41495987A>G g.40990082A>G - - CYP2B6_000009 reference allele CYP2B6*1F - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1186C>G r.= p.= CYP2B6*4B - likely benign g.41496025C>G g.40990120C>G - - CYP2B6_000005 reference allele CYP2B6*4B - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1186C>G r.= p.= CYP2B6*1D - likely benign g.41496025C>G g.40990120C>G - - CYP2B6_000005 reference allele CYP2B6*1D - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-1186C>G r.= p.= CYP2B6*1J - likely benign g.41496025C>G g.40990120C>G -1186C>G - CYP2B6_000005 reference allele CYP2B6*1J - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-801G>T r.= p.= CYP2B6*22 - likely benign g.41496410G>T g.40990505G>T - - CYP2B6_000221 reference allele CYP2B6*22 - - - Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-757C>T r.= p.= CYP2B6*1E - likely benign g.41496454C>T g.40990549C>T - - CYP2B6_000008 reference allele CYP2B6*1E - - - Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*4B - - g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*4B - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*1G - - g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*1G - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*1H - - g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*1H - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*1K - - g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*1K - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*1L - - g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*1L - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*1N - - g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*1N - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*1J - - g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*1J - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*5B - likely benign g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*5B - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-750T>C r.= p.= CYP2B6*22 - likely benign g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*22 - - rs4802101 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-750T>C r.= p.= CYP2B6*4D - likely benign g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*4D - - rs4802101 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-750T>C r.= p.= CYP2B6*6B - likely benign g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*6B - - rs4802101 Germline - - - 0 - Johan den Dunnen
-?/. _1 c.-750T>C r.= p.= CYP2B6*7B - likely benign g.41496461T>C g.40990556T>C -750T>C - CYP2B6_000011 reference allele CYP2B6*7B - - rs4802101 Germline - - - 0 - Johan den Dunnen
./. _1 c.-591A>G r.= p.= CYP2B6*5C - - g.41496620A>G g.40990715A>G 25505C>T - CYP2B6_000051 reference allele CYP2B6*5C - - - Germline - - - 0 - Johan den Dunnen
+/. _1 c.-82T>C r.= p.= CYP2B6*22 - pathogenic g.41497129T>C g.40991224T>C - - CYP2B6_000220 reference allele CYP2B6*22; increased expression - - - Germline - - - 0 - Johan den Dunnen
./. 1 c.64C>T r.(?) p.(Arg22Cys) CYP2B6*2B - - g.41497274C>T g.40991369C>T - - CYP2B6_000020 reference allele CYP2B6*2B - - - Germline - - - 0 - Johan den Dunnen
./. 1 c.64C>T r.(?) p.(Arg22Cys) CYP2B6*2/2A - - g.41497274C>T g.40991369C>T - - CYP2B6_000020 reference allele CYP2B6*2 (2A) - - - Germline - - - 0 - Johan den Dunnen
./. 2 c.216G>C r.(=) p.(=) CYP2B6*2B - - g.41509950G>C g.41004045G>C 12740G>C - CYP2B6_000021 reference allele CYP2B6*2B - - - Germline - - - 0 - Johan den Dunnen
./. 2i c.334+59A>T r.(=) p.(=) CYP2B6*4C - - g.41510127A>T g.41004222A>T 12917A>T - CYP2B6_000006 referene allele CYP2B6*4C - - - Germline - - - 0 - Johan den Dunnen
-?/. 2i c.334+59A>T r.(=) p.(=) CYP2B6*1D - likely benign g.41510127A>T g.41004222A>T 12917A>T - CYP2B6_000006 reference allele CYP2B6*1D - - - Germline - - - 0 - Johan den Dunnen
./. 3i c.415A>G r.(=) p.(Lys139Glu) CYP2B6*13/13A - - g.41510282A>G g.41004377A>G 13072A>G - CYP2B6_000080 reference allele CYP2B6*13/13A - - - Germline - - - 0 - Johan den Dunnen
./. 3i c.415A>G r.(=) p.(Lys139Glu) CYP2B6*8 - - g.41510282A>G g.41004377A>G 13072A>G - CYP2B6_000080 reference allele CYP2B6*8 - - - Germline - - - 0 - Johan den Dunnen
-?/. 3i c.485-18C>T r.(=) p.(=) CYP2B6*1C - likely benign g.41512792C>T g.41006887C>T 15582C>T - CYP2B6_000003 reference allele CYP2B6*1C - - - Germline - - - 0 - Johan den Dunnen
./. 4 c.516G>T r.(=) p.(Gln172His) CYP2B6*6/6A - - g.41512841G>T g.41006936G>T - - CYP2B6_000060 reference allele CYP2B6*6/6A - - - Germline - - - 0 - Johan den Dunnen
./. 4 c.516G>T r.(=) p.(Gln172His) CYP2B6*7/7A - - g.41512841G>T g.41006936G>T - - CYP2B6_000060 reference allele CYP2B6*7/7A - - - Germline - - - 0 - Johan den Dunnen
./. 4 c.516G>T r.(=) p.(Gln172His) CYP2B6*13/13A - - g.41512841G>T g.41006936G>T - - CYP2B6_000060 reference allele CYP2B6*13/13A - - - Germline - - - 0 - Johan den Dunnen
-/. - c.516G>T r.(?) p.(Gln172His) - - benign g.41512841G>T g.41006936G>T CYP2B6(NM_000767.5):c.516G>T (p.Q172H) - CYP2B6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 4 c.516G>T r.(=) p.(Gln172His) CYP2B6*6B - VUS g.41512841G>T g.41006936G>T 15631G>T - CYP2B6_000060 reference allele CYP2B6*6B - - rs3745274 Germline - - - 0 - Johan den Dunnen
?/. 4 c.516G>T r.(=) p.(Gln172His) CYP2B6*6C - VUS g.41512841G>T g.41006936G>T 15631G>T - CYP2B6_000060 reference allele CYP2B6*6C - - rs3745274 Germline - - - 0 - Johan den Dunnen
?/. 4 c.516G>T r.(=) p.(Gln172His) CYP2B6*7B - VUS g.41512841G>T g.41006936G>T 15631G>T - CYP2B6_000060 reference allele CYP2B6*7B - - rs3745274 Germline - - - 0 - Johan den Dunnen
-?/. 5 c.777C>A r.(?) p.(Ser259Arg) CYP2B6*3 - likely benign g.41515255C>A g.41009350C>A 18045C>A - CYP2B6_000223 reference allele CYP2B6*3 - - rs45482602 Germline - - - 0 - Johan den Dunnen
?/. - c.777C>A r.(?) p.(Ser259Arg) - - VUS g.41515255C>A g.41009350C>A CYP2B6(NM_000767.4):c.777C>A (p.(Ser259Arg)) - CYP2B6_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4/4A - likely pathogenic g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*4/4A; increased activity - - - Germline - - - 0 - Johan den Dunnen
./. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4B - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*4B - - - Germline - - - 0 - Johan den Dunnen
./. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4C - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*4C - - - Germline - - - 0 - Johan den Dunnen
./. 5 c.785A>G r.(=) p.(Lys262Arg) CYP2B6*6/6A - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*6/6A - - - Germline - - - 0 - Johan den Dunnen
./. 5 c.785A>G r.(=) p.(Lys262Arg) CYP2B6*7/7A - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*7/7A - - - Germline - - - 0 - Johan den Dunnen
./. 5 c.785A>G r.(=) p.(Lys262Arg) CYP2B6*13/13A - - g.41515263A>G g.41009358A>G - - CYP2B6_000040 reference allele CYP2B6*13/13A - - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*4D - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*4D - - - Germline - - - 0 - Johan den Dunnen
-/. - c.785A>G r.(?) p.(Lys262Arg) - - benign g.41515263A>G g.41009358A>G CYP2B6(NM_000767.5):c.785A>G (p.K262R) - CYP2B6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.785A>G r.(?) p.(Lys262Arg) - - benign g.41515263A>G g.41009358A>G CYP2B6(NM_000767.5):c.785A>G (p.K262R) - CYP2B6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*6B - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*6B - - rs2279343 Germline - - - 0 - Johan den Dunnen
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*6C - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*6C - - rs2279343 Germline - - - 0 - Johan den Dunnen
+/. 5 c.785A>G r.(?) p.(Lys262Arg) CYP2B6*7B - pathogenic g.41515263A>G g.41009358A>G 18053A>G - CYP2B6_000040 reference allele CYP2B6*7B - - rs2279343 Germline - - - 0 - Johan den Dunnen
./. 9 c.1459C>T r.(=) p.(Arg487Cys) CYP2B6*5/5A - - g.41522715C>T g.41016810C>T 25505C>T - CYP2B6_000050 reference allele CYP2B6*5/5A - - - Germline - - - 0 - Johan den Dunnen
./. 9 c.1459C>T r.(=) p.(Arg487Cys) CYP2B6*5B - - g.41522715C>T g.41016810C>T 25505C>T - CYP2B6_000050 reference allele CYP2B6*5B - - - Germline - - - 0 - Johan den Dunnen
./. 9 c.1459C>T r.(=) p.(Arg487Cys) CYP2B6*5C - - g.41522715C>T g.41016810C>T 25505C>T - CYP2B6_000050 reference allele CYP2B6*5C - - - Germline - - - 0 - Johan den Dunnen
./. 9 c.1459C>T r.(=) p.(Arg487Cys) CYP2B6*7/7A - - g.41522715C>T g.41016810C>T 25505C>T - CYP2B6_000050 reference allele CYP2B6*7/7A - - - Germline - - - 0 - Johan den Dunnen
?/. 9 c.1459C>T r.(=) p.(Arg487Cys) CYP2B6*7B - VUS g.41522715C>T g.41016810C>T 25505C>T - CYP2B6_000050 reference allele CYP2B6*7B - - rs3211371 Germline - - - 0 - Johan den Dunnen
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