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Date of Change Type of Data Subject Note of Change
2026-02-05 ALLELE_DEFINITION CYP2C19 added *42
2026-02-04 PAIR added update PMID for thiopurine pairs
2026-02-04 RECOMMENDATION azathioprine Updated for the guideline update 2025-2026
2026-02-04 RECOMMENDATION thioguanine Updated for the guideline update 2025-2026
2026-02-03 ALLELE_FUNCTION_REFERENCE NUDT15 *4 and *6 assigned Decreased Allele Biochemical Functional Status
2026-02-03 ALLELE_FUNCTION_REFERENCE NUDT15 Allele Clinical Functional Status updated for *4, *5, *6, *7, and *8; removed *2 because it became a sub-allele of *3
2026-02-03 ALLELE_FUNCTION_REFERENCE NUDT15 Strength of Evidence added for all alleles
2026-02-03 ALLELE_FUNCTION_REFERENCE NUDT15 Summary of Findings added for all alleles
2026-02-03 ALLELE_FUNCTION_REFERENCE TPMT Allele clinical function assignments and PMIDs updated for *5, *6, *7, *8, *10, *13, *16, *17, *18, *20, *21, *22, *25, *26, *27, *28, *31, *33, *34, *37, *38, and *39
2026-02-03 ALLELE_FUNCTION_REFERENCE TPMT Strength of Evidence added for all alleles
2026-02-03 ALLELE_FUNCTION_REFERENCE TPMT Summary of Findings added for all alleles
2026-02-03 GENE_CDS NUDT15 updated for guideline update
2026-02-03 GENE_CDS TPMT updated for guideline update
2026-02-03 RECOMMENDATION azathioprine Updated for the guideline update 2025-2026
2026-02-03 RECOMMENDATION mercaptopurine Updated for the guideline update 2025-2026
2026-02-03 RECOMMENDATION thioguanine Updated for the guideline update 2025-2026
2026-01-29 ALLELE_DEFINITION NUDT15 *2 has become a sub-allele of *3, see Notes tab
2025-11-03 ALLELE_DEFINITION CYP4F2 changed protein p.E129L to p.E129K for *12
2025-11-03 ALLELE_DEFINITION NUDT15 changed p.L30V to p.L30F in *16
2025-11-03 ALLELE_FUNCTION_REFERENCE NAT2 Added entries for 6 new star alleles defined by PharmVar: *70, *71, *72, *73, *74, and *75
2025-10-27 ALLELE_DEFINITION MT-RNR1 Changed m.930A>G to m.930G>A and added rsID; G is the reference allele and A the variant allele; changes made after discussion with guideline authors
2025-10-27 ALLELE_FUNCTION_REFERENCE MT-RNR1 Changed m.930A>G to m.930G>A; G is the reference allele and A the variant allele; changes made after discussion with guideline authors
2025-10-27 FREQUENCY MT-RNR1 Changed m.930A>G to m.930G>A; G is the reference allele and A the variant allele; changes made after discussion with guideline authors
2025-10-14 ALLELE_DEFINITION SLCO1B1 DELETED HAPLOTYPE: *3, *7, *12, *13, *38, *46
ADDED: *55-*58 MODIFIED: *45 to add wobbles (combining *45 and *46)
2025-10-14 ALLELE_FUNCTION_REFERENCE SLCO1B1 Updated to PharmVar 6.2.17 which removed *3, *7, *12, *13, *38, and *46
2025-09-24 ALLELE_FUNCTION_REFERENCE NUDT15 PMIDs updated for all alleles
2025-09-23 ALLELE_FUNCTION_REFERENCE SLCO1B1 Based on PharmVar assessments of SLCO1B1 allele defintion, *46 merged with *45
2025-09-23 ALLELE_FUNCTION_REFERENCE SLCO1B1 Function assignment, strength of evidence, PMIDs, and summary of findings updated for *39, *41, and *45 based on PCEP evaluation
2025-09-23 ALLELE_FUNCTION_REFERENCE SLCO1B1 Strength of evidence, PMIDs, and summary of findings updated for *9 and *31 based on PCEP evaluation. *9 assigned biochemical functional status of decreased
2025-09-15 ALLELE_DEFINITION CFTR changed semicolon to comma in F508C,S1251N
2025-09-02 PAIR updated NAT2-hydralazine pair for guideline release
2025-09-01 RECOMMENDATION hydralazine created
2025-08-25 ALLELE_DEFINITION CFTR added further variants included in ivacaftor label
2025-08-25 ALLELE_FUNCTION_REFERENCE CFTR added further variants included in ivacaftor label
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-08-20 GUIDELINE Removed redundant links to outdated supplemental files
2025-07-31 ALLELE_DEFINITION NAT2 added *65-*75
2025-07-23 GENE_CDS ABCG2 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS CACNA1S added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS CYP2B6 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS CYP2C19 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS CYP2C9 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS CYP2D6 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS CYP3A5 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS DPYD added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS G6PD added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS HLA-A added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS HLA-B added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS MT-RNR1 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS NUDT15 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS RYR1 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS SLCO1B1 added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS TPMT added gene symbol as a prefix to the phenotype column values
2025-07-23 GENE_CDS UGT1A1 added gene symbol as a prefix to the phenotype column values
2025-06-16 ALLELE_DEFINITION CYP2C19 added *40, *41
2025-06-16 ALLELE_DEFINITION CYP2C9 added *86-*88
2025-06-16 ALLELE_DEFINITION CYP4F2 new haplotypes *18-*23 added
2025-06-16 ALLELE_DEFINITION SLCO1B1 Added new alleles *50-*54
2025-05-28 ALLELE_DEFINITION CYP2B6 added rs2516199080
2025-05-28 ALLELE_DEFINITION CYP2C9 rs1216169538'; rs2493006942; rs761033063; rs2492587526; rs2492591692; rs2492634549; rs2492650213'; rs2492662738; rs2492662839
2025-05-28 ALLELE_DEFINITION CYP2D6 added rs1135837; rs1555888899; rs566108360; rs150216909; rs993385303; rs538707090; rs774943042; rs1477736084
2025-05-13 GENE_CDS NAT2 created
2025-05-13 TEST_ALERT hydralazine created
2025-05-07 ALLELE_DEFINITION CYP2B6 added *50
2025-05-01 ALLELE_DEFINITION CYP2D6 *21 core allele definition changed; added allele *178-*185
2025-03-06 ALLELE_DEFINITION NAT2 added*54-*64
2025-03-06 ALLELE_DEFINITION NUDT15 *21 added
2024-11-07 ALLELE_DEFINITION NAT2 added*51-*53
2024-10-31 ALLELE_DEFINITION CYP2D6 added *177; updated *150 allele definition (rs16947 was removed from *150.002 suballele but is included in the *150.001 suballele, therefore A at position rs16947 was changed to R)
2024-10-17 FREQUENCY CYP2D6 corrected frequencies for PMIDs 36111505, 36294714
2024-10-02 ALLELE_DEFINITION CYP2D6 added *176
2024-09-10 ALLELE_FUNCTION_REFERENCE NUDT15 Added entries for 12 new star alleles defined by PharmVar: *10, *11, *12, *13, *14, *15, *16, *17, *18, *19, *20, *21
2024-09-10 ALLELE_FUNCTION_REFERENCE TPMT Added new alleles from TPMT Nomenclature Committee: *42, *43, *44, *45, *46
2024-07-25 PAIR updated CYP2B6-methadone pair for guideline release
2024-07-23 PAIR updated beta blocker pairs for guideline release
2024-07-09 ALLELE_DEFINITION CYP2D6 added *173-*175
2024-07-09 ALLELE_DEFINITION DPYD added protein header at AA3 - splicing defect
2024-07-08 RECOMMENDATION metoprolol File created
2024-06-27 ALLELE_FUNCTION_REFERENCE CYP2B6 Updated summary for *39-*43 to include new evidence (PMID: 38596098). Changed clinical function of *44-*49 from unknown to uncertain based on new evidence (PMID: 38596098).
2024-05-26 ALLELE_FUNCTION_REFERENCE CYP2D6 added *27x2 and *28x2
2024-05-09 TEST_ALERT azathioprine Updated text for NUDT15 PM to reduce dose by 10x
2024-03-20 RECOMMENDATION azathioprine Updated for the following phenotypes: TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer
2024-03-20 RECOMMENDATION mercaptopurine Updated for the following phenotypes: TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer
2024-03-20 RECOMMENDATION thioguanine Updated for the following phenotypes: TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer
2024-03-20 TEST_ALERT azathioprine Updated for the following phenotypes: TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer
2024-03-20 TEST_ALERT mercaptopurine Updated for the following phenotypes: TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer
2024-03-20 TEST_ALERT thioguanine Updated for the following phenotypes: TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/NUDT15 Intermediate Metabolizer, Possible TPMT Intermediate Metabolizer/Possible NUDT15 Intermediate Metabolizer
2024-03-11 ALLELE_DEFINITION NAT2 Initial NAT2 release in PharmVar
2024-02-14 FREQUENCY RYR1 Gnomad v3 frequencies added
2024-01-30 ALLELE_DEFINITION CYP4F2 added *17
2024-01-30 ALLELE_DEFINITION DPYD added PharmVar ID for c.1129-5923C>G
2024-01-11 ALLELE_DEFINITION DPYD Added c.1129-5923C>G as a single allele in addition to the HapB3 allele; further information in Notes
2024-01-11 ALLELE_FUNCTION_REFERENCE DPYD Added c.1129-5923C>G as a single allele in addition to the HapB3 allele; and PMID plus findings to reference row
2023-12-20 ALLELE_DEFINITION MT-RNR1 Added "m." prefix to allele names
2023-12-20 ALLELE_FUNCTION_REFERENCE MT-RNR1 Added "m." prefix to allele names
2023-12-20 FREQUENCY MT-RNR1 Added "m." prefix to allele names
2023-12-15 ALLELE_DEFINITION CYP2D6 Modified: protein header 'p.E402L' to 'p.V402L'); NEW POSITION: Position 4125G>C/g.42126667C>G/g.9144G>C/rs1135832; Position 4134T>C/g.42126658A>G/g.9153T>C/rs1135836; Position 4167T>C/g.42126625A>G/g.9186T>C; Position 4170T>C/g.42126622A>G/g.9189T>C/rs747998333; Position 4173C>T/g.42126619G>A/g.9192C>T/rs28371736; Modified: *36 'PVID:PV00460' to 'PVID:PV02379'; *83 'PVID:PV00500' to 'PVID:PV02385'; *141'PVID:PV01593' to 'PVID:PV02389'
2023-12-05 ALLELE_DEFINITION RYR1 File was updated to include the RYR1 variants from supplemental table S2 of the ClinGen RYR1 VCEP publication 35849058 (see Notes tab)
2023-12-05 ALLELE_FUNCTION_REFERENCE RYR1 File was updated to include the RYR1 variants from supplemental table S2 of the ClinGen RYR1 VCEP publication 35849058 (see Notes tab); variant classification updated based on VCEP disusssion - see Notes tab
2023-12-05 FREQUENCY RYR1 File was updated to include the RYR1 variants from supplemental table S2 of the ClinGen RYR1 VCEP publication 35849058 (see Methods tab)
2023-12-05 RECOMMENDATION desflurane uploaded to CPIC db
2023-12-05 RECOMMENDATION enflurane uploaded to CPIC db
2023-12-05 RECOMMENDATION halothane uploaded to CPIC db
2023-12-05 RECOMMENDATION isoflurane uploaded to CPIC db
2023-12-05 RECOMMENDATION methoxyflurane uploaded to CPIC db
2023-12-05 RECOMMENDATION sevoflurane uploaded to CPIC db
2023-12-05 RECOMMENDATION succinylcholine uploaded to CPIC db
2023-11-15 RECOMMENDATION desflurane added note about biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S to cell I3, I5, and I7
2023-11-15 RECOMMENDATION enflurane added note about biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S to cell I3, I5, and I7
2023-11-15 RECOMMENDATION halothane added note about biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S to cell I3, I5, and I7
2023-11-15 RECOMMENDATION isoflurane added note about biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S to cell I3, I5, and I7
2023-11-15 RECOMMENDATION methoxyflurane added note about biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S to cell I3, I5, and I7
2023-11-15 RECOMMENDATION sevoflurane added note about biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S to cell I3, I5, and I7
2023-11-15 RECOMMENDATION succinylcholine added note about biallelic (homozygous or compound heterozygous) pathogenic variants in CACNA1S to cell I3, I5, and I7
2023-11-13 PAIR [atorvastatin-CYP3A4] CA Level: none >> 3
2023-11-13 PAIR [atorvastatin-CYP3A5] CA Level: none >> 3
2023-11-13 PAIR [atorvastatin-HMGCR] CA Level: none >> 3
2023-11-13 PAIR [escitalopram-CYP2D6] PGx Testing: Informative PGx >> none
2023-11-13 PAIR [fluvastatin-CYP3A4] CA Level: none >> 3
2023-11-13 PAIR [fluvastatin-HMGCR] CA Level: none >> 3
2023-11-13 PAIR [lovastatin-CYP3A5] CA Level: none >> 3
2023-11-13 PAIR [lovastatin-HMGCR] CA Level: none >> 3
2023-11-13 PAIR [neomycin-MT-RNR1] CA Level: 1A >> 3
2023-11-13 PAIR [rosuvastatin-CYP3A5] CA Level: none >> 3
2023-11-13 PAIR [simvastatin-CYP3A4] CA Level: none >> 3
2023-11-13 PAIR [simvastatin-CYP3A5] CA Level: none >> 4
2023-11-13 PAIR [tacrolimus-CYP3A4] CA Level: 1B >> 2A
2023-10-24 PAIR [amikacin-MT-RNR1] PGx Testing: none >> Actionable PGx
2023-10-24 PAIR [atorvastatin-LDLR] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [atorvastatin-SLCO1B1] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [avatrombopag-CYP2C9] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [capecitabine-DPYD] PGx Testing: Actionable PGx >> Testing Recommended
2023-10-24 PAIR [fluoxetine-CYP2D6] PGx Testing: Informative PGx >> Actionable PGx
2023-10-24 PAIR [gentamicin-MT-RNR1] PGx Testing: none >> Actionable PGx
2023-10-24 PAIR [irinotecan-UGT1A1] PGx Testing: Actionable PGx >> Testing Recommended
2023-10-24 PAIR [lansoprazole-CYP2C19] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [metoprolol-CYP2D6] PGx Testing: Informative PGx >> Actionable PGx
2023-10-24 PAIR [mivacurium-BCHE] PGx Testing: none >> Actionable PGx
2023-10-24 PAIR [paroxetine-CYP2D6] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [plazomicin-MT-RNR1] PGx Testing: none >> Actionable PGx
2023-10-24 PAIR [procainamide-NAT2] PGx Testing: Informative PGx >> Actionable PGx
2023-10-24 PAIR [propafenone-CYP2D6] PGx Testing: Actionable PGx >> Informative PGx
2023-10-24 PAIR [quinidine-CYP2D6] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [simvastatin-SLCO1B1] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [streptomycin-MT-RNR1] PGx Testing: none >> Actionable PGx
2023-10-24 PAIR [terbinafine-CYP2D6] PGx Testing: Informative PGx >> none
2023-10-24 PAIR [tobramycin-MT-RNR1] PGx Testing: none >> Actionable PGx
2023-10-24 PAIR [tolazamide-G6PD] PGx Testing: none >> Actionable PGx
2023-10-24 PAIR [tolbutamide-G6PD] PGx Testing: none >> Actionable PGx
2023-10-20 RECOMMENDATION clopidogrel took out "standard dose (75 mg/day)" for PM and likely PM recommendations (CVI) to match publication pdf text
2023-10-01 ALLELE_DEFINITION CYP2B6 change in the hybrid name for *29 and *30
2023-10-01 ALLELE_DEFINITION CYP2D6 change in name convention for hybrid alleles (*13, *61, *63, *68)
2023-09-27 ALLELE_DEFINITION CYP2D6 changed order of content entry in CR table headers
2023-09-25 ALLELE_FUNCTION_REFERENCE CYP2B6 Updated allele functions, references, summaries, and strength of evidence per CYP2B6/methadone team; added *39-*49
2023-09-22 ALLELE_DEFINITION G6PD Change "Telti/Kobe" to "Telti, Kobe" to avoid collision with diplotype syntax
2023-09-22 ALLELE_FUNCTION_REFERENCE G6PD Change "Telti/Kobe" to "Telti, Kobe" to avoid collision with diplotype syntax
2023-09-22 FREQUENCY G6PD Change "Telti/Kobe" to "Telti, Kobe" to avoid collision with diplotype syntax
2023-08-31 ALLELE_DEFINITION CYP2D6 *57 removed; *57 was re-assigned to CYP2D6*36.005 by PharmVar
2023-08-31 ALLELE_FUNCTION_REFERENCE CYP2D6 *57 removed, *57 was re-assigned to CYP2D6*36.005 by PharmVar
2023-08-29 RECOMMENDATION desflurane added combinations of CACNA1S and RYR1
2023-08-29 RECOMMENDATION enflurane added combinations of CACNA1S and RYR1
2023-08-29 RECOMMENDATION halothane added combinations of CACNA1S and RYR1
2023-08-29 RECOMMENDATION isoflurane added combinations of CACNA1S and RYR1
2023-08-29 RECOMMENDATION methoxyflurane added combinations of CACNA1S and RYR1
2023-08-29 RECOMMENDATION sevoflurane added combinations of CACNA1S and RYR1
2023-08-29 RECOMMENDATION succinylcholine added combinations of CACNA1S and RYR1
2023-08-03 GENE_CDS CYP2D6 updated description due to *41 activity value change
2023-08-01 TEST_ALERT citalopram fixed typo
2023-08-01 TEST_ALERT escitalopram fixed typo
2023-07-17 TEST_ALERT simvastatin fixed typo: "<<=20 mg/kg" to ""<20 mg/kg"
2023-06-04 ALLELE_DEFINITION CYP2D6 added *172
2023-06-04 ALLELE_DEFINITION CYP4F2 added CYP4F2*8 -*16
2023-05-10 RECOMMENDATION amitriptyline changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION atomoxetine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION clomipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION codeine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION desipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION doxepin changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION hydrocodone changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION imipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION nortriptyline changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION ondansetron changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION tamoxifen changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION tramadol changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION trimipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 RECOMMENDATION tropisetron changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT amitriptyline changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT atomoxetine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT clomipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT codeine added rows for CYP2D6 AS: ≥6, ≥5, ≥3.75, ≥4, ≥3.5, ≥3.25, ≥3, 4, 2.75, 3, 2.5
2023-05-10 TEST_ALERT desipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT doxepin changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT hydrocodone added rows for CYP2D6 AS: ≥6, ≥5, ≥3.75, ≥4, ≥3.5, ≥3.25, ≥3, 4, 2.75, 3, 2.5
2023-05-10 TEST_ALERT imipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT nortriptyline changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT ondansetron changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT tamoxifen changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT tramadol added rows for CYP2D6 AS: ≥6, ≥5, ≥3.75, ≥4, ≥3.5, ≥3.25, ≥3, 4, 2.75, 3, 2.5
2023-05-10 TEST_ALERT trimipramine changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-05-10 TEST_ALERT tropisetron changed AS ≥4.5 to ≥3.75 and 3.5 to 2.75 duu to changes in the CYP2D6 allele function assignment
2023-04-28 ALLELE_DEFINITION UGT1A1 Updated the notes tab to (1) remove a dead link, (2) remove reference to *60 which is not included in this file and (3) explain the count of TA repeats in several alleles
2023-04-20 ALLELE_DEFINITION CYP2D6 change of position for rs72549346 (*42) based on PharmVar update; new PharmVar ID
2023-04-18 RECOMMENDATION fluvoxamine changed AS ≥4.5 to 3.75 and AS 3.5 to 2.75 because of the CYP2D6 functionailty assignment changes
2023-04-18 RECOMMENDATION paroxetine changed AS ≥4.5 to 3.75 and AS 3.5 to 2.75 because of the CYP2D6 functionailty assignment changes
2023-04-18 RECOMMENDATION venlafaxine changed AS ≥4.5 to 3.75 and AS 3.5 to 2.75 because of the CYP2D6 functionailty assignment changes
2023-04-18 RECOMMENDATION vortioxetine changed AS ≥4.5 to 3.75 and AS 3.5 to 2.75 because of the CYP2D6 functionailty assignment changes
2023-04-14 ALLELE_DEFINITION CYP2D6 change of position for rs72549346 (*42) based on PharmVar update; new PharmVar ID
2023-04-13 ALLELE_DEFINITION CYP2B6 added protein change update to rs3745274
2023-04-11 PAIR added PMID for SSRI/SNRI guideline
2023-04-10 PAIR updated SSRI/SNRI guideline pairs
2023-03-20 ALLELE_FUNCTION_REFERENCE CYP2D6 Changes from 11/08/2022 were released in the CPIC db in March 2023
2023-03-02 ALLELE_DEFINITION CYP2B6 added *39-*49
2023-03-02 ALLELE_DEFINITION DPYD PharmVar ID changed for rs72549309
2023-02-02 ALLELE_FUNCTION_REFERENCE G6PD Update function assignment for Tokyo and Farroupilha to standardize with CPIC G6PD function terms based on work from Geck, et al. 2023
2023-01-06 FREQUENCY CYP2D6 added *140 - *163 (excluding *150, *151)
2022-12-20 PAIR updated G6PD/moxifloxacin and statin pairs with no recommendation
2022-12-19 PAIR updated G6PD pairs
2022-12-09 ALLELE_DEFINITION CYP2D6 added p.E211fs for *150 and p.L231del for *166; PVID for *150 was updated
2022-11-11 ALLELE_DEFINITION CYP4F2 PharmVar IDs updated
2022-11-08 ALLELE_FUNCTION_REFERENCE CYP2D6 Added *140 to *163 (except *150, *151- were pending at the time)
2022-11-08 ALLELE_FUNCTION_REFERENCE CYP2D6 Added strength of evidence and added and updated summaries to all alleles
2022-11-08 ALLELE_FUNCTION_REFERENCE CYP2D6 Changed function assignment for *9, *32, *41, *52, *91, *109, *119, *132,
2022-10-28 ALLELE_DEFINITION CYP2D6 *19: 1662G>C, 2851C>T (R296C), 4181G>C (S486T) set to wobbles S, R, and S due to *19.002 suballele addition to PharmVar
2022-10-28 ALLELE_DEFINITION CYP2D6 added *150, *151, *164-*171
2022-10-28 ALLELE_DEFINITION CYP2D6 changed PVID for *152 and *153
2022-10-03 ALLELE_DEFINITION CYP2C19 added g.94842866A>G to *5, *7, *8
2022-10-03 ALLELE_DEFINITION CYP2C19 replaced PharmVAR IDs for *38, *5, *7, *8, *16, *30, *34
2022-09-22 RECOMMENDATION paroxetine updated recommendation to guideline update
2022-09-20 RECOMMENDATION fluvoxamine updated content based on the SSRI-SNRI guideline update
2022-09-20 RECOMMENDATION venlafaxine created
2022-09-20 RECOMMENDATION vortioxetine created
2022-08-14 ALLELE_DEFINITION CYP2D6 added *152-*163
2022-08-06 ALLELE_DEFINITION RYR1 rs113812662 is obsolete; rs113422327 is obsolete both taken out of file
2022-06-03 ALLELE_DEFINITION CYP2D6 update of *147 variant single insertion of AAAGGGGCG and PharmVar ID
2022-05-04 ALLELE_DEFINITION CYP2C9 mapping of *74 changed at PharmVar PV01740Replaced by PV01803 (corresponds to change from 8757G>T to 9257G>T both listed as Q214H)
2022-04-26 PAIR [amikacin-MT-RNR1] PharmGKB level changed from 3 to 1A
2022-04-26 PAIR [kanamycin-MT-RNR1] PharmGKB level changed from 3 to 1A
2022-04-26 PAIR [pimozide-CYP2D6] PharmGKB level changed from 3 to none
2022-04-26 PAIR [tobramycin-MT-RNR1] PharmGKB level changed from 3 to 1A
2022-04-19 ALLELE_DEFINITION CYP2C9 added *76-*85
2022-04-19 ALLELE_DEFINITION CYP2D6 protein header at Z3 ('p.Y107I; p.T107N' (in column Z) to 'p.T107N; p.T107I')
2022-04-04 FREQUENCY G6PD updated to include frequency for "Cairo" found in gnomAD v3.1.2
2022-03-24 ALLELE_DEFINITION CYP2C19 added p.expression in NP field for -806C>T
2022-03-23 FREQUENCY CYP4F2 Added *2, *3 frequency using gnomad data
2022-03-17 TEST_ALERT rosuvastatin remvoe ABCG2 indeterminate rows
2022-03-12 FREQUENCY CYP2D6 added "x" infront of "≥"
2022-03-12 FREQUENCY CYP2D6 split *4≥2 into *4x2 and *4x≥3 to be in sync with PharmVar
2022-03-11 FREQUENCY ABCG2 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY CYP2B6 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY CYP2C19 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY CYP2C9 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY CYP2D6 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY CYP3A5 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY NUDT15 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY SLCO1B1 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY TPMT fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-11 FREQUENCY UGT1A1 fixed diplotpye/phenotype calculations and made layouts consistent
2022-03-08 ALLELE_FUNCTION_REFERENCE CYP2D6 Update structural variants to agree with PharmVar nomenclature
2022-02-22 RECOMMENDATION carbamazepine Fix the format of the "No Result" Allele Status values
2022-02-15 ALLELE_FUNCTION_REFERENCE CYP3A5 Removed *2, *4, *5 rows based on the CYP3A5 allele definition update (all had unknown function assigned)
2022-02-13 ALLELE_DEFINITION CYP2D6 added 1979C>T to represent updated *20 core allele variants to 1979C>T+1980T>C (L213S) instead of 1980T>C (L213P); this introduces an R at position 1979 for *1 and *124 since some but not all suballeles include the 1979C>T variant
2022-02-13 ALLELE_DEFINITION CYP2D6 updated *20 PharmVar ID
2022-02-09 FREQUENCY ABCG2 frequency file created.
2022-02-04 ALLELE_DEFINITION CYP2D6 added *148
2022-02-03 FREQUENCY CYP2C9 Fixed population group values to match standard
2022-02-01 ALLELE_DEFINITION CYP3A5 *2, *4, *5 retired by PharmVar - removed "wobbles" from *3 at the *2, *4, *5 positions that documented the overlap with *3 suballeles
2022-02-01 ALLELE_DEFINITION CYP3A5 *3.011 retired by PharmVar - removed "wobble" from *3 at the *9 position that documented the overlap with *3.011 allele
2022-02-01 ALLELE_DEFINITION CYP3A5 removed Note: "In addition, variants that present in the core allele for one star allele but also present in some but not allsuballeles of another star allele are included in the other star allele as ambiguous changes using the IUPAC nucleotide code (https://www.bioinformatics.org/sms/iupac.html), e.g. the *3 consensus allele includes a "Y" being either C or T at the 14660A>G position since this variant is part of the *4 core allele but is not part of the *3 core allele at PharmVar since it is not present in all *3 suballeles (only in *3.009). These positions are represented in grey in the Comparative Allele ViewEr (CAVE) tool at PharmVar."
2022-02-01 RECOMMENDATION simvastatin updated recommendation based on CPIC statin guideline included simvastatin update
2022-01-25 ALLELE_DEFINITION CYP4F2 added CYP4F2*4, *5, *6 and *7
2022-01-24 ALLELE_FUNCTION_REFERENCE CYP2C9 Added *62 to *75; other alleles (*1-*61 were not updated at this time)
2022-01-15 FREQUENCY CYP2C9 Added new alleles *62-75 based on PharmVar update. Allele frequency from gnomAD was also added for alleles that contain single unique variant.
2022-01-04 ALLELE_DEFINITION CYP2C9 added *72-*75
2021-12-02 ALLELE_DEFINITION CYP2D6 updated PharmVar ID for *149
2021-12-02 PAIR added ACYP2 and cisplatin at level D
2021-12-01 ALLELE_DEFINITION SLCO1B1 Added new alleles *48-*49
2021-11-16 ALLELE_FUNCTION_REFERENCE G6PD Added finding statements and strength of evidence for all variants
2021-11-16 ALLELE_FUNCTION_REFERENCE SLCO1B1 Added *48 and *49
2021-11-10 FREQUENCY SLCO1B1 Added new alleles *48, *49
2021-10-22 ALLELE_DEFINITION CYP2D6 added new alleles *146, *147, *149
2021-10-22 ALLELE_DEFINITION CYP2D6 added wobbles (W and M) into *36 due to release of *36.004 which includes amino acid changes that are core allele variants in *49 and *53
2021-10-22 ALLELE_FUNCTION_REFERENCE RYR1 Based on the ClinGen's variant curation expert panel (VCEP) recommendations for RYR1 pathogenicity classification in malignant hyperthermia susceptibility (PMID 33767344) two variants have been changed from "malignant hyperthermia associated" to "uncertain function"
2021-10-13 ALLELE_DEFINITION DPYD added note about variant source
2021-10-13 ALLELE_DEFINITION NUDT15 added link to the PharmVar NUDT15 page on Notes tab
2021-10-05 GENE_CDS ABCG2 created
2021-10-01 ALLELE_DEFINITION CYP2D6 added rs1931013246
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 137_138insT to 137dup and g.42130655_42130656insA to g.42130655dup and g.5156_5157insT to g.5156dup; reference cell from del to A and variant cell from insA to AA
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 1864_1865insTTTCGCCCC; 1856_1857insTTTCGCCCCTTTCGCCCC to 1864_1865TTTCGCCCC[3]; 1856_1857dup; 1856_1864dup and g.42128936_42128937insGGGGCGAAA; g.42128936_42128937insGGGGCGAAAGGGGCGAAA to g.42128934AAAGGGGCG[3]; g.42128934_42128942dup and g.6883_6884insTTTCGCCCC; g.6883_6884insTTTCGCCCCTTTCGCCCC to g.6875_6883dup, g.6875TTTCGCCCC[3] and refrence cell from del to AAAGGGGCG and *30, *58, *145 variant cell from insGGGGCGAAA to AAAGGGGCGAAAGGGGCG; *40 variant cell from insGGGGCGAAAGGGGCGAAA to AAAGGGGCG(3)
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 1977_1978insG to 1977dup and g.42128817_42128818insC to g.42128817dup and g.6996_6997insG to g.6996dup and refernec cell dec to C and varinat cell insC to CC
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 2540delAACT to 2540_2543del and g.42128249delAGTT to g.42128251_42128254del and g.7559delAACT to g.7559_7562del and reference cell from AGTT to TTAG and variant cells from delAGTT to delTTAG
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 2580_2581insC to 2580dup and g.42128218_42128219insG to g.42128218dup and g.7599_7600insC to g.7599dup and reference cell from del to G and variant cell from insG to GG
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 2588delGACT to 2586CTGA[1] and g.42128201delAGTC to g.42128199TCAG[1] and g.7607delGACT to g.7605CTGA[1] and reference cell from AGTC to TCAG(2) and variant cell from delAGTC to TCAG(1)
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 2616delAAG to 2616_2618del and g.42128174delCTT to g.42128176_42128178del and g.7635delAAG to g.7635_7637del and reference cell from CTT to TCT and variant cell from delCTT to delTCT
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 2928delGATCCTACATCCGGATGTG to 2928_2936del and g.42127846delCACATCCGGATGTAGGATC to g.42127846_42127864del and g.7947delGATCCTACATCCGGATGTG to g.7947_7965del
2021-10-01 ALLELE_DEFINITION CYP2D6 changed 3810delTC to 3810_3811del and g.42126981delGA to g.42126982_42126983del and g.8829delTC to g.8829_8830del and reference cell from GA to AG and variant cell from del GA to delAG
2021-10-01 ALLELE_DEFINITION CYP2D6 changed g.42130728delG to g.42130729del per PharmVar API content; removed C in other headers for that variant
2021-10-01 ALLELE_DEFINITION CYP2D6 changed g.9153_9154insGTGCCCACT to g.9146_9154dup and 4134_4135insGTGCCCACT to 4127_4135dup and g.42126657_42126658insAGTGGGCAC to g.42126658_42126666dup and reference cell from del to AGTGGGCAC and variant cell from insAGTGGGCAC to AGTGGGCACAGTGGGCAC
2021-10-01 ALLELE_DEFINITION CYP2D6 removed letter after del in header positions for 1708delT
2021-10-01 ALLELE_DEFINITION CYP2D6 removed letter after del in header positions for 1996delC
2021-10-01 ALLELE_DEFINITION CYP2D6 removed letter after del in header positions for 2550delA
2021-10-01 ALLELE_DEFINITION CYP2D6 removed letter after del in header positions for 2829delC
2021-10-01 FREQUENCY G6PD created version 1
2021-09-29 ALLELE_DEFINITION TPMT updated link to Nomenclature website and added note
2021-09-24 ALLELE_DEFINITION UGT1A1 changed representation for *36, *27, *28 from g.233760233 to g.233760235TA[6]; g.233760235TA[7]; g.233760235TA[8]; g.233760235TA[9] and from g.175490 to g.175492TA[6]; g.175492TA[7]; g.175492TA[8]; g.175492TA[9]
2021-09-21 FREQUENCY SLCO1B1 Updated allele table based on PharmVar SLCO1B1 release
2021-09-17 ALLELE_FUNCTION_REFERENCE CYP2C19 *39 added
2021-09-17 FREQUENCY CYP2C19 added *39 in the allele frequency and references tab
2021-09-08 TEST_ALERT aminosalicylic acid created
2021-09-08 TEST_ALERT aspirin created
2021-09-08 TEST_ALERT chloramphenicol created
2021-09-08 TEST_ALERT chloroquine created
2021-09-08 TEST_ALERT ciprofloxacin created
2021-09-08 TEST_ALERT dapsone created
2021-09-08 TEST_ALERT dimercaprol created
2021-09-08 TEST_ALERT doxorubicin created
2021-09-08 TEST_ALERT furazolidone created
2021-09-08 TEST_ALERT glyburide created
2021-09-08 TEST_ALERT hydroxychloroquine created
2021-09-08 TEST_ALERT mafenide created
2021-09-08 TEST_ALERT methylene blue created
2021-09-08 TEST_ALERT nalidixic acid created
2021-09-08 TEST_ALERT nitrofurantoin created
2021-09-08 TEST_ALERT norfloxacin created
2021-09-08 TEST_ALERT ofloxacin created
2021-09-08 TEST_ALERT pegloticase created
2021-09-08 TEST_ALERT phenazopyridine created
2021-09-08 TEST_ALERT primaquine created
2021-09-08 TEST_ALERT quinine created
2021-09-08 TEST_ALERT rasburicase created
2021-09-08 TEST_ALERT sulfadiazine created
2021-09-08 TEST_ALERT sulfadimidine created
2021-09-08 TEST_ALERT sulfamethoxazole / trimethoprim created
2021-09-08 TEST_ALERT sulfanilamide created
2021-09-08 TEST_ALERT sulfasalazine created
2021-09-08 TEST_ALERT sulfisoxazole created
2021-09-08 TEST_ALERT tafenoquine created
2021-09-08 TEST_ALERT tolbutamide created
2021-09-08 TEST_ALERT toluidine blue created
2021-09-08 TEST_ALERT vitamin c created
2021-09-08 TEST_ALERT vitamin k created
2021-09-03 ALLELE_DEFINITION NUDT15 PharmVar introduced core allele definitions for NUDT15, 502G>A was removed from *20
2021-09-03 ALLELE_DEFINITION NUDT15 added p. in front of amino acid change
2021-09-03 ALLELE_DEFINITION NUDT15 based on the PharmVar API content columns for 50delGAGTCG and 55_56insGAGTCG are combined for rs746071566 and the variant representation changed, content starting D11 to the right
2021-09-03 ALLELE_DEFINITION NUDT15 based on the PharmVar API content for rs761191455 the following was changed: 342_343insG, E115Frameshift, g.48041103_48041104insG, g.8537_8538insG, reference cell: del, variant cell: insG to 343dup, p.E115fs, g.48041104dup, g.8538dup, reference cell: G, variant cell: GG
2021-09-03 ALLELE_DEFINITION NUDT15 removed nucleotide A from headers in row 2, 4, 5 for rs1457579126
2021-09-02 ALLELE_DEFINITION CYP2C9 changed column headers for rs1304490498 from 3531delAGAAATGGAA, p.118fs, g.94942213delAGAAATGGAA, g.9056delAGAAATGGAA to 3531_3540del, p.K118fs, g.94942213_94942222del, g.9056_9065del based on PharmVar API content
2021-09-02 ALLELE_DEFINITION CYP2C9 removed A from column headers in row 2, 4, 5 for rs9332131 based on PharmVar API content
2021-09-02 ALLELE_DEFINITION CYP3A5 based on PharmVar API content replaced for rs41303343 27126_27127insT, p.346fs, g.99652770_99652771insA, g.32228_32229insT, reference cell: del, allele cell: insA to 27126dup p.T346fs, g.99652771dup, g.32228dup, reference cell: A, allele cell: AA
2021-09-02 ALLELE_DEFINITION DPYD changed representation for rs72549309 from c.295_298delTCAT, p.F100Sfs, g.97740411_97740414delATGA, g.185642_185645delTCAT, reference cell: ATGA, allele cell: delATGA to c.299_302del, g.97740411ATGA[1], g.185642TCAT[1], reference cell: ATGA(2), allele cell: ATGA(1) to match the PharmVar API content
2021-09-02 ALLELE_DEFINITION DPYD removed base from row 2, 4, 5 for c.1898del
2021-08-19 ALLELE_DEFINITION CYP2D6 changed S to G at position g.42129130 for all allele in which all suballeles have the variant alleles, see notes for further detail
2021-08-16 ALLELE_DEFINITION MT-RNR1 Combined columns for 807 variants
2021-08-03 TEST_ALERT clopidogrel created
2021-08-02 TEST_ALERT fluvastatin created
2021-08-02 TEST_ALERT rosuvastatin created
2021-07-30 TEST_ALERT atorvastatin Deleted possible phenotypes and increased function; updated CDS alerts text to reflect recommendations in 2021 guideline
2021-07-30 TEST_ALERT lovastatin Deleted possible phenotypes and increased function; updated CDS alerts text to reflect recommendations in 2021 guideline
2021-07-30 TEST_ALERT pitavastatin Deleted possible phenotypes and increased function; updated CDS alerts text to reflect recommendations in 2021 guideline
2021-07-30 TEST_ALERT pravastatin Deleted possible phenotypes and increased function; updated CDS alerts text to reflect recommendations in 2021 guideline
2021-07-30 TEST_ALERT simvastatin Deleted possible phenotypes and increased function; updated CDS alerts text to reflect recommendations in 2021 guideline
2021-07-12 ALLELE_DEFINITION SLCO1B1 Added new alleles *43-*47
2021-07-09 ALLELE_DEFINITION NUDT15 update the deletion bases for *9
2021-07-08 ALLELE_FUNCTION_REFERENCE ABCG2 Created
2021-07-08 ALLELE_FUNCTION_REFERENCE SLCO1B1 Authors updated allele function, PMIDs, and Findings and added additional alleles based on PharmVar
2021-06-28 RECOMMENDATION fosphenytoin Fix typo for HLA-B "No Result" value
2021-06-28 RECOMMENDATION phenytoin Fix typo for HLA-B "No Result" value
2021-06-23 GENE_CDS SLCO1B1 Deleted recommendation specific to simvastatin for decreased and poor function and added information for all statins; removed "possible" phenotypes
2021-06-22 RECOMMENDATION clopidogrel created
2021-06-11 ALLELE_DEFINITION CYP2C9 changed R144H to R144C for 3608C>T
2021-06-09 ALLELE_DEFINITION MT-RNR1 Added variants with no rsID
2021-05-24 ALLELE_DEFINITION CYP2D6 changed p.H478N to p.H478Y
2021-05-18 ALLELE_DEFINITION CYP2D6 added p. infront of amino acid change
2021-05-18 ALLELE_DEFINITION CYP2D6 replaced rs200965026 with rs369177208
2021-05-07 ALLELE_DEFINITION CYP2D6 added 1662G>C; This is a synonymous variant that is present in most alleles but in *29 and *70 this variant together with 1660G>A results in an amino acid change from V136I instead of the V136M of 1660G>A by itself
2021-05-07 ALLELE_DEFINITION CYP2D6 changed 3260_3261insGT to 3261_3262insGT and g.42127533_42127534insAC to g.42127530_42127531insAC
2021-05-07 ALLELE_DEFINITION CYP2D6 changed A431G to A482G
2021-05-07 ALLELE_DEFINITION CYP2D6 changed Frameshift to 'amino acid position' fs for the frameshift causing variants
2021-05-07 ALLELE_DEFINITION CYP2D6 changed rsID for 4073G>A to rs200965026
2021-05-07 ALLELE_DEFINITION CYP2D6 deleted T variant at position 2989G>A in *132
2021-05-07 ALLELE_DEFINITION CYP2D6 took out delGene from *5, gene deletion is reflected through PVID
2021-05-07 ALLELE_DEFINITION CYP2D6 update to NG_008376.4 in row 5 which moves all positions compared to NG_008376.3
2021-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 added 17625515, 32857933, 29325448, 29136336, 31649299, 20083681 to PMID for *17 and changed level of evidence from strong to definitive
2021-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 added 19164093 to PMID for *22
2021-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 added 21692664 to PMID for *5, *8, *9, *10, *11, *19
2021-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 added 29098786 *29, *30, *31, *32, *33
2021-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 added 29325448, 33237321 to PMID for *1
2021-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 added 31713493 to PMID for *22, *23, *24
2021-05-06 ALLELE_DEFINITION CYP2C19 Moved *38 as reference as this allele matches the human genome CYP2C19 Reference sequence LRG_584 / NG_008384.3.
2021-05-06 ALLELE_DEFINITION CYP2C19 added *39
2021-05-04 ALLELE_DEFINITION CYP2C9 Changed file to use RefSeq NG_008385.2 positions, updated allele definitions and added new allele *71 from PharmVar
2021-04-29 ALLELE_FUNCTION_REFERENCE SLCO1B1 Based on PharmVar assessments of SLCO1B1 allele defintion, *1A renamed *1, *1B renamed as *37, *1C reassigned as *38, added new alleles *39, *40, *41, *42, merged *17 with *15, merged *18 with *14, *21 with *20, *22 with *1, and *35 with *20.
2021-04-28 ALLELE_DEFINITION CYP2C19 romoved "delgene" text from *36
2021-04-26 ALLELE_FUNCTION_REFERENCE CYP2C9 Added PMID 15637526 to PMID column for *2
2021-04-23 ALLELE_DEFINITION CYP2B6 update cell Z2 from 21034T>C to 21034C>T
2021-04-22 ALLELE_FUNCTION_REFERENCE CYP2C19 *1: Added PMIDs: 32602114, 22027650 to reflect well established normal function (PharmGKB and PharmVar CYP2C19 review articles) |Removed PMIDs: 12464799, 17455109, 18312490, 21325430, 25001882, 20712527, 26244421, 7484048 becuase well established alleles do not require primary literature review
2021-04-22 ALLELE_FUNCTION_REFERENCE CYP2C19 *25: Added PMID 19636337. In sillico data. Article cited on PharmVar and likely evaluated by authors
2021-04-22 ALLELE_FUNCTION_REFERENCE CYP2C19 *28: Added PMID 20712527. In sillico data. Article cited on PharmVar and likely evaluated by authors
2021-04-22 ALLELE_FUNCTION_REFERENCE CYP2C19 *2: Added PMID 22027651 to reflect well established no function (PharmGKB CYP2C19 review article) | Removed PMIDS 9732415, 19661214, 9103550 becuase well established alleles do not require primary literature review
2021-04-22 ALLELE_FUNCTION_REFERENCE CYP2C19 *38: Added PMID 32602114. PharmVar article which details the change in star allele designation
2021-04-22 ALLELE_FUNCTION_REFERENCE CYP2C19 *3: Added PMID 22027651 to reflect well established no function (PharmGKB CYP2C19 review article)
2021-04-15 ALLELE_FUNCTION_REFERENCE CYP2C9 Edited evidence summary column to comply with revised allele function SOP
2021-04-14 ALLELE_DEFINITION CYP2D6 corrected nucleotides for *114 to C in reference row and T in *144 row to align with GRCh38 nucleotides
2021-04-11 ALLELE_DEFINITION SLCO1B1 updated alleles based on PharmVar update: Update of alleles:
• *18, remove 578T>G (L193R)
• *21: add L643F (1929 A>C, rs34671512)
• Rename *1A to *1
New rows (new alleles):
• Add row *37: *1B re-assigned as *37
• Add row: *38 (old *1c),
• Add *39, *40, *41, *42 (*39-*42 from new sequence submissions)
New columns (core alleles from new submission):
• Add column: for R152L for *38 (no rsID yet, the one at the chr location show as G>C instead of G>A https://www.ncbi.nlm.nih.gov/snp/rs145144129)
• Add column: Splice donor for core alleles from *41 from new submissions
• Add column: Y173C for core alleles from *42 from new submissions
• Add column: R253X for core allele from *39
Remove rows (merges):
• *1B: reassigned as *37
• *17: merged *17 with *15 (-910G>A removed)
• *18: Merge *18 with *14 (L191=, F199=, S137= removed from core allele definition)
• *21: Merge *21 with *20 (-910G>A removed)
• *22: Merge *22 with *19 (L191= removed)
• *35: Merge *35 with *20 (F199= removed, no information for F199=)
Remove columns:
• Remove column: rs4149015 (-910G>A) from allele definition table (pass 500 upstream of exon 1)
• Remove column: 578T>G (L193R), since *18 no longer have this
• Remove column: L191= (rs4149057) from core allele definition, synonymous change
• Remove column: F199= (rs2291075) from core allele definition, synonymous change
• Remove column: S137= (rs11045818) from core allele definition, synonymous change
2021-04-01 ALLELE_DEFINITION UGT1A1 deleted column for -3275T>G, *60 was removed as row but position was still included
2021-03-30 ALLELE_DEFINITION CYP2B6 *16 has been removed from PharmVar as a core allele and now is a suballele of *18, meaning that *18 may have an A or G at position 18053
2021-03-03 FREQUENCY MT-RNR1 File created
2021-02-25 ALLELE_DEFINITION G6PD Removed the Hektoen variant which has no mapping information. Approved by G6PD guideline authors.
2021-02-25 ALLELE_FUNCTION_REFERENCE G6PD Removed the Hektoen variant, which has no mapping information
2021-02-17 ALLELE_DEFINITION CYP2D6 combined the two 1721 columns into one column
2021-02-11 ALLELE_DEFINITION MT-RNR1 Created file
2021-01-31 RECOMMENDATION atomoxetine AS >=3.25 corrected phenotype from NM to UM in pediatrics
2021-01-31 RECOMMENDATION atomoxetine changed text for NM and IM AS 1 from "Initiate with a dose of 0.5 mg/kg and increase to 1.2 mg/kg/day after 3 days." to "Initiate with a dose of 0.5 mg/kg/day and increase to 1.2 mg/kg/day after 3 days." to have 0.5mg/kg/day
2021-01-21 ALLELE_DEFINITION CYP2C9 CPIC file still uses CYP2C9 RefSeqGene - NG_008385.1; PharmVar uses CYP2C9 RefSeqGene (LRG_1195) - NG_008385.2, which has different position numbers due to the different lengths of the NG sequences
2021-01-21 ALLELE_DEFINITION CYP2C9 added *63-*70
2021-01-21 ALLELE_DEFINITION CYP2D6 *128 changed variant allele from G to C (GRCH38)
2021-01-21 ALLELE_DEFINITION CYP2D6 added *142 to *145
2021-01-21 ALLELE_DEFINITION CYP2D6 changed variant for *124 from 3810_3811insTC to 3810delTC (as per PharmVar website 1/21/21 -Corrected in v4.1.9 3810ins TC was corrected to 3810_3811delTC)
2021-01-21 ALLELE_DEFINITION CYP2D6 variant in *18, position moved from 4133_4134insGTGCCCACT to 4134_4135insGTGCCCACT and 42126666_42126667insAGTGGGCAC to g.42126657_42126658insAGTGGGCAC (per PharmVar Corrected in v.4.2.3 4133_4134insGTGCCCACT was corrected to 4134_4135insGTGCCCACT)
2021-01-12 ALLELE_DEFINITION G6PD Updated the names to remove "G6PD" for Nice, A- 680T_376G and A- 968C_376G for consistency
2021-01-12 ALLELE_FUNCTION_REFERENCE G6PD Updated the names to remove "G6PD" for Nice, A- 680T_376G and A- 968C_376G for consistency
2020-12-30 FREQUENCY CYP2C19 corrected frequency for *35 for PMID: 26021325 for the Sub-Saharan African Luhya in Webuye (LWK) and Esan (ESN) entry, which changes the allele frequency for *35 from 0.0915 to 0.0321
2020-12-09 RECOMMENDATION codeine updated text in the implications field in PM row
2020-12-08 ALLELE_DEFINITION NUDT15 Fixed chromosomal location value for rs746071566 to use "g." prefix
2020-12-06 ALLELE_DEFINITION CYP2B6 Combined colums for g.41016810C>T and g.41016810C>A
2020-10-19 FREQUENCY CYP2D6 changed reference 26423923 to 26423926
2020-10-14 FREQUENCY CYP2C9 Updated phenotype frequencies to AS frequencies to be consistent with other CYP2C9 information
2020-10-14 FREQUENCY CYP2D6 Updated phenotype frequencies to AS frequencies to be consistent with other CYP2D6 information
2020-10-14 PAIR updated PharmGKB levels and PGx testing values
2020-10-09 ALLELE_DEFINITION RYR1 changed c.7039_7041delGAG or c.7042_7044delGAG name to c.7042_7044delGAG to reflect naming as on the EMHG list and used mapping data that correspond with the rsID in dbSNP
2020-10-09 ALLELE_FUNCTION_REFERENCE RYR1 changed c.7039_7041delGAG or c.7042_7044delGAG name to c.7042_7044delGAG to reflect naming as on the EMHG list and used mapping data that correspond with the rsID in dbSNP
2020-10-09 FREQUENCY RYR1 changed c.7039_7041delGAG or c.7042_7044delGAG name to c.7042_7044delGAG to reflect naming as on the EMHG list and used mapping data that correspond with the rsID in dbSNP
2020-10-08 ALLELE_DEFINITION CYP2D6 *140 and *141
2020-09-26 ALLELE_DEFINITION CYP2C19 removed core allele only tab; added comment in notes
2020-09-26 ALLELE_DEFINITION CYP2D6 Removed core allele only tab, added comment to Notes
2020-09-22 ALLELE_DEFINITION RYR1 changed ambiguous nucleotides in headers to two sequences, e.g. NC_000019.10:g.38446710G>M to g.38446710G>C; g.38446710G>A
2020-09-22 ALLELE_DEFINITION RYR1 chromosomal and Ref sequence change for R163L - changed G>A to G>T; ref sequence for R614L entered as g.28847G>T
2020-09-18 PAIR changed PharmGKB level to 1A for desipramine, imipramine and CYP2D6 and for imipramine, trimipramine, clomipramine, doxepin for CYP2C19
2020-09-18 PAIR changed PharmGKB level to 3 for tegafur
2020-09-15 PAIR added PMID for PPI drugs (omeprazole, lansoprazole, dexlansoprazole, pantoprazole, esomeprazole, rabeprazole) rows 43, 42, 45, 109, 260, 313 column G
2020-09-15 PAIR added URL link for esomeprazole, rabeprazole rows 260, 313 column C
2020-09-15 PAIR changed "used for recommendation" (column H) from n/a to No for rows 260, 313 and from Yes to No for rows 227, 234, 253, 275, 280, 292, 295, 324
2020-09-15 PAIR removed guideline URL and PMID from row 281
2020-09-15 PAIR removed links to a CPIC guideline from column C and changed No to n/a for the following rows 99,135,156,172,186,, 217, 230, 235, 237, 238, 243, 244, 245, 268, 319, 321, 323, , 334, 342, 363,364, 365, 375, 377, 378, 407-10, 448, 449, 457, 476-479
2020-09-14 ALLELE_DEFINITION CYP2B6 Removed columns for the different structural variants and consolidated it in one column at the end of the table that lists PharmVar's description for the structural variants
2020-09-14 ALLELE_DEFINITION CYP2C19 Renamed column header for *37, which represents a partial gene deletion, and replaced it with 'structural variation' and list the PharmVar IDs for the structural variants
2020-09-14 ALLELE_DEFINITION CYP2D6 Removed columns for the different strutural variant changes in CYP2D6 and replaced it with one column that lists the PharmVar IDs for the structural variants
2020-08-26 ALLELE_DEFINITION NUDT15 changed ref to del for *1 of insertion variants to match insertaton representation in other genes
2020-08-17 ALLELE_DEFINITION DPYD added del into g.97740411_97740414ATGA cell F4
2020-08-17 ALLELE_DEFINITION NUDT15 Added *20
2020-08-11 RECOMMENDATION codeine File created
2020-08-11 RECOMMENDATION hydrocodone File created
2020-08-11 RECOMMENDATION tramadol File created
2020-08-10 ALLELE_DEFINITION CYP3A5 created second tab for core alleles+overlap (see notes)
2020-08-10 ALLELE_DEFINITION CYP3A5 updated to PharmVar numbering in row 2
2020-08-07 ALLELE_FUNCTION_REFERENCE CYP2C19 added missing PMID for *1 in PMIDs column
2020-08-07 ALLELE_FUNCTION_REFERENCE CYP2C9 Fixed typo in Findings column for *1
2020-08-07 ALLELE_FUNCTION_REFERENCE CYP2D6 Fixed PMID field for *2 and *10 (added missing PMIDs)
2020-08-05 ALLELE_FUNCTION_REFERENCE MT-RNR1 File created
2020-07-21 TEST_ALERT desflurane split RYR1 or CACNA1S phenotyp and RYR1 or CACNA1S Activity score in one column per gene to match other two gene tables
2020-07-21 TEST_ALERT enflurane split RYR1 or CACNA1S phenotyp and RYR1 or CACNA1S Activity score in one column per gene to match other two gene tables
2020-07-21 TEST_ALERT halothane split RYR1 or CACNA1S phenotyp and RYR1 or CACNA1S Activity score in one column per gene to match other two gene tables
2020-07-21 TEST_ALERT isoflurane split RYR1 or CACNA1S phenotyp and RYR1 or CACNA1S Activity score in one column per gene to match other two gene tables
2020-07-21 TEST_ALERT methoxyflurane split RYR1 or CACNA1S phenotyp and RYR1 or CACNA1S Activity score in one column per gene to match other two gene tables
2020-07-21 TEST_ALERT sevoflurane split RYR1 or CACNA1S phenotyp and RYR1 or CACNA1S Activity score in one column per gene to match other two gene tables
2020-07-21 TEST_ALERT succinylcholine split RYR1 or CACNA1S phenotyp and RYR1 or CACNA1S Activity score in one column per gene to match other two gene tables
2020-07-20 RECOMMENDATION desflurane created log
2020-07-20 RECOMMENDATION enflurane created log
2020-07-20 RECOMMENDATION halothane created log
2020-07-20 RECOMMENDATION isoflurane created log
2020-07-20 RECOMMENDATION methoxyflurane created log
2020-07-20 RECOMMENDATION sevoflurane created log
2020-07-20 RECOMMENDATION succinylcholine created log
2020-07-20 TEST_ALERT amitriptyline added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT atomoxetine added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT clomipramine added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT desipramine added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT doxepin added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT imipramine added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT nortriptyline added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT ondansetron added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT tamoxifen added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT trimipramine added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-20 TEST_ALERT tropisetron added rows for CYP2D6 AS: ≥6, ≥5, ≥4.5, ≥4, ≥3.5, ≥3.25, ≥3, 4, 3.5, 3, 2.5
2020-07-17 ALLELE_FUNCTION_REFERENCE CYP2C19 fixed typo in change dates on this tab
2020-07-17 RECOMMENDATION atazanavir Fixed a typo for "interrmediate metabolizer"
2020-07-15 GENE_CDS SLCO1B1 added EHR Priority Result Notation none and consultation text for Indeterminate
2020-07-15 GENE_CDS SLCO1B1 changed EHR Priority Result Notation from Normal/Routine/Low Risk to none for Possible Increased Function based on Consultation text
2020-07-15 RECOMMENDATION simvastatin added SLCO1B1 possible increased function row
2020-07-15 TEST_ALERT atorvastatin added row for possible increased function
2020-07-15 TEST_ALERT lovastatin added row for possible increased function
2020-07-15 TEST_ALERT pitavastatin added row for possible increased function
2020-07-15 TEST_ALERT pravastatin added row for possible increased function
2020-07-15 TEST_ALERT simvastatin added row for possible increased function
2020-07-14 RECOMMENDATION amitriptyline added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION atomoxetine added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION azathioprine log created
2020-07-14 RECOMMENDATION clomipramine added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION desipramine added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION doxepin added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION fluvoxamine added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION imipramine added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION mercaptopurine log created
2020-07-14 RECOMMENDATION nortriptyline added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION ondansetron added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION paroxetine added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION tamoxifen added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION thioguanine log created
2020-07-14 RECOMMENDATION trimipramine added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-14 RECOMMENDATION tropisetron added AS AS 2.5, 3, 3.5, 4, ≥3, ≥3.25, ≥3.5, ≥4, ≥4.5, ≥5, ≥6 rows
2020-07-07 ALLELE_FUNCTION_REFERENCE CACNA1S Changed column B header to "Activity Value"
2020-07-07 ALLELE_FUNCTION_REFERENCE CYP2C9 Changed column B header to "Activity Value"
2020-07-07 ALLELE_FUNCTION_REFERENCE G6PD Updated allele function with CPIC terms
2020-07-07 ALLELE_FUNCTION_REFERENCE NUDT15 Changed column B header to "Activity Value"
2020-07-07 ALLELE_FUNCTION_REFERENCE RYR1 Changed column B header to "Activity Value"
2020-07-07 ALLELE_FUNCTION_REFERENCE TPMT Changed column B header to "Activity Value"
2020-07-07 ALLELE_FUNCTION_REFERENCE UGT1A1 Changed column B header to "Activity Value"
2020-07-06 ALLELE_DEFINITION CYP2C9 added 'g.' to BF5 location
2020-07-06 ALLELE_DEFINITION CYP2C9 changed g.15625delA to g.15626delA according to PharmVar and dbSNP
2020-07-06 ALLELE_DEFINITION CYP2C9 corrected 395G>A* to g.8598G>A in V5
2020-06-30 FREQUENCY CYP2D6 Added alleles *115-*139 to file.
2020-06-29 ALLELE_DEFINITION CYP2C19 added *38
2020-06-29 ALLELE_FUNCTION_REFERENCE CYP2C19 added *38
2020-06-29 FREQUENCY CYP2C19 added *38
2020-06-24 ALLELE_DEFINITION NUDT15 Updated *13, *15, *17 and *18 variant cDNA position to match PharmVar
2020-06-23 ALLELE_DEFINITION TPMT Added *42, *43 and *44
2020-06-22 ALLELE_DEFINITION NUDT15 Updated the *9 variant allele and position and the *2/*6 variant rsID to reflect the PharmVar definitions
2020-06-16 ALLELE_DEFINITION TPMT Updated the alleles on the NC and NG sequence for *36
2020-06-11 ALLELE_FUNCTION_REFERENCE CACNA1S Added reference row and normal function
2020-06-11 ALLELE_FUNCTION_REFERENCE RYR1 Added reference row and assigned normal function
2020-06-08 ALLELE_DEFINITION CYP2C9 Added *62
2020-05-30 ALLELE_DEFINITION CYP2D6 CNVs taken out since those will be handeled through the db
2020-05-26 ALLELE_DEFINITION CFTR replaced reference with "ivacaftor non-responsive CFTR sequence"
2020-05-26 ALLELE_FUNCTION_REFERENCE CFTR replaced reference with "ivacaftor non-responsive CFTR sequence"
2020-05-22 ALLELE_DEFINITION CFTR removed F508del variant
2020-05-22 ALLELE_FUNCTION_REFERENCE CFTR removed F508del variant
2020-04-29 ALLELE_FUNCTION_REFERENCE CYP2C9 Fixed separator in PMIDs field for *27
2020-04-28 ALLELE_FUNCTION_REFERENCE CYP2C9 Fixed separator syntax in finding field
2020-04-28 ALLELE_FUNCTION_REFERENCE DPYD Removed comments from c.3067C>A.
2020-04-22 FREQUENCY CYP2C19 Added PMID: 27849442 PMID: 28873029 PMID: 19069365 PMID: 30143732; transferred changes to Allele frequency tab
2020-04-10 ALLELE_FUNCTION_REFERENCE CYP2D6 *84 changed to uncertain function after discussion with 2D6 guideline authors
2020-04-02 FREQUENCY CYP2D6 Alleles *16, *66, *67, *79 and *80 removed from file (retired alleles). Added PMID 29327975 to references and added additional frequencies from PMID 31368850
2020-03-30 ALLELE_FUNCTION_REFERENCE CYP2B6 *16 has been removed from PharmVar as a core allele and now is a suballele of *18, so the *16 reference not already included in the *18 evidence (PMID: 16495778) has been moved to *18
2020-03-30 FREQUENCY CYP2B6 *16 has been removed from PharmVar as a core allele and now is a suballele of *18, so *16 has been removed leading to a slight frequency increase in the *1 allele in the Sub-Saharan African group
2020-03-25 ALLELE_FUNCTION_REFERENCE CYP2C19 changed red text color to black for *36 and *37 rows
2020-03-24 FREQUENCY CYP2C9 Updated diplotype and phenotype frequencies
2020-03-16 FREQUENCY CYP2D6 Corrected typo for PMID 17301689, removed duplicate rows for PMIDs 25937793 and 23619115, moved *34 frequencies from PMID 29674966 to *35, updated text in methods section, added new references
2020-03-10 ALLELE_FUNCTION_REFERENCE CYP2D6 Function updated for *72, *81, *120, *124, and *129
2020-03-09 ALLELE_DEFINITION CFTR added column for G1244E back
2020-03-09 ALLELE_DEFINITION CFTR changed C>T to C>A for g.70172C>A in D110E
2020-03-09 ALLELE_DEFINITION CFTR exchanged g.4609A>G with g.150772A>G for 3272-26A->G in NG sequence field
2020-03-09 ALLELE_DEFINITION CFTR removed "T" in column R117H/ Class: IV and row E831X
2020-03-09 ALLELE_DEFINITION CFTR removed 711+1G->T/ Class: I and added 711+3A->G
2020-03-09 ALLELE_FUNCTION_REFERENCE CFTR Added comment for F508del variants
2020-03-09 ALLELE_FUNCTION_REFERENCE CFTR Removed ivacaftor non-responsive function from reference
2020-03-09 ALLELE_FUNCTION_REFERENCE CFTR removed 711+1G->T/ Class: I and added 711+3A->G as later is on the ivacaftor drug label
2020-03-04 ALLELE_DEFINITION CFTR removed G85E and added back g.117559591_117559593delTCT
2020-03-04 ALLELE_DEFINITION CYP2D6 took out R at g.42130692G>A in *56 in the "core alleles" tab since this tab reflects the core allele defintion as presented on PharmVar
2020-03-04 ALLELE_FUNCTION_REFERENCE CFTR Added F508del(TCT)
2020-03-04 ALLELE_FUNCTION_REFERENCE CFTR Took out G85E since not part of recommendations, was included in the incidential finding table in the guideline supplement
2020-03-02 ALLELE_DEFINITION CYP2D6 added Y into *4 at position g.42127526C>T
2020-02-28 FREQUENCY CYP2B6 Added diplotype and phenotype frequencies. Up dated information on biogeographical groups in methods tab.
2020-02-28 FREQUENCY CYP2C19 Added diplotype and phenotype frequencies. Updated information on Methods tab
2020-02-27 FREQUENCY CACNA1S Updated information about biogeogrpahical groups on methods tab
2020-02-27 FREQUENCY CYP3A5 Updated information in methods tab
2020-02-27 FREQUENCY HLA-A Added PMID 30127801 to references, updated information on biogeographical groups on methods tab
2020-02-27 FREQUENCY HLA-B Added PMID 30127801 to references. Updated information about biogeographical groups on methods tab
2020-02-26 ALLELE_DEFINITION DPYD Removed intronic normal function variants: c.1129-15T>C, c.763-118A>G, c.1740+39C>T, c.1740+40A>G, c.850+41T>C, c.958+134T>G, c.1340-106T>A, c.2300-39G>A, c.234-123G>C, c.850+91C>T, c.1129-28G>T, c.681-8C>T
2020-02-26 ALLELE_FUNCTION_REFERENCE DPYD Removed intronic normal function variants: c.1129-15T>C, c.763-118A>G, c.1740+39C>T, c.1740+40A>G, c.850+41T>C, c.958+134T>G, c.1340-106T>A, c.2300-39G>A, c.234-123G>C, c.850+91C>T, c.1129-28G>T, c.681-8C>T
2020-02-26 FREQUENCY DPYD Removed intronic normal function variants: c.1129-15T>C, c.763-118A>G, c.1740+39C>T, c.1740+40A>G, c.850+41T>C, c.958+134T>G, c.1340-106T>A, c.2300-39G>A, c.234-123G>C, c.850+91C>T, c.1129-28G>T, c.681-8C>T
2020-02-24 ALLELE_DEFINITION DPYD Removed c.151-69G>A; variant was originally assigned decreased function because of its LD with rs115232898 (Y186C), which has decreased function, but a functional impact of c.151-69G>A by itself is uncertain. Original comment: This variant was found to be in linkage disequilibrium (D'=1) with the decreased function variant rs115232898 (Y186C); the decreased function associated with this variant is likely due to this linkage.
2020-02-24 ALLELE_DEFINITION DPYD Removed c.680+139G>A; variant was originally assigned decreased function because of its possible connection with the Hap3B haplotype, which has decreased function, but a functional impact of c.680+139G>A by itself is uncertain. Original comment: Incomplete association with HapB3 (SNP not exclusive to HapB3 and therefore not a suitable proxy).
2020-02-24 ALLELE_FUNCTION_REFERENCE DPYD Removed c.151-69G>A; variant was originally assigned decreased function because of its LD with rs115232898 (Y186C), which has decreased function, but a functional impact of c.151-69G>A by itself is uncertain. Original comment: This variant was found to be in linkage disequilibrium (D'=1) with the decreased function variant rs115232898 (Y186C); the decreased function associated with this variant is likely due to this linkage.
2020-02-24 ALLELE_FUNCTION_REFERENCE DPYD Removed c.680+139G>A; variant was originally assigned decreased function because of its possible connection with the Hap3B haplotype, which has decreased function, but a functional impact of c.680+139G>A by itself is uncertain. Original comment: Incomplete association with HapB3 (SNP not exclusive to HapB3 and therefore not a suitable proxy).
2020-02-24 FREQUENCY DPYD Removed c.151-69G>A; variant was originally assigned decreased function because of its LD with rs115232898 (Y186C), which has decreased function, but a functional impact of c.151-69G>A by itself is uncertain. Original comment: This variant was found to be in linkage disequilibrium (D'=1) with the decreased function variant rs115232898 (Y186C); the decreased function associated with this variant is likely due to this linkage.
2020-02-24 FREQUENCY DPYD Removed c.680+139G>A; variant was originally assigned decreased function because of its possible connection with the Hap3B haplotype, which has decreased function, but a functional impact of c.680+139G>A by itself is uncertain. Original comment: Incomplete association with HapB3 (SNP not exclusive to HapB3 and therefore not a suitable proxy).
2020-02-13 ALLELE_DEFINITION NUDT15 Updated the chromosome number
2020-01-09 FREQUENCY CYP2D6 Added *99 allele to allele frequency and references sheets. Removed column for undefined duplications from references sheet
2020-01-08 FREQUENCY UGT1A1 Corrected typo on Allele frequency sheet
2019-12-09 FREQUENCY CACNA1S Removed rsID and protein change columns from Allele frequency sheet. Changed rsIDs on Reference sheet to equivalent nucleotide changes
2019-12-09 FREQUENCY RYR1 Removed rsID and protein change columns from Allele frequency sheet. Changed rsIDs on Reference sheet to equivalent nucleotide changes
2019-12-06 ALLELE_DEFINITION DPYD Removed intronic and non-synonymous uncertain function variants: c.233+112G>T, c.234-93C>T, c.274C>G, c.484-145T>A, c.910T>C, c.1054C>G, c.1525-28A>G, c.1974+75A>G, c.2060A>C, c.2678A>G, c.2948C>T
2019-12-06 ALLELE_FUNCTION_REFERENCE DPYD Removed intronic and non-synonymous uncertain function variants: c.233+112G>T, c.234-93C>T, c.274C>G, c.484-145T>A, c.910T>C, c.1054C>G, c.1525-28A>G, c.1974+75A>G, c.2060A>C, c.2678A>G, c.2948C>T
2019-12-06 FREQUENCY DPYD Removed intronic and non-synonymous uncertain function variants: c.233+112G>T, c.234-93C>T, c.274C>G, c.484-145T>A, c.910T>C, c.1054C>G, c.1525-28A>G, c.1974+75A>G, c.2060A>C, c.2678A>G, c.2948C>T
2019-12-05 ALLELE_FUNCTION_REFERENCE CYP2C9 Added "N/A" to cells in the Activity Score column for unknown or uncertain function alleles.
2019-12-05 ALLELE_FUNCTION_REFERENCE CYP2D6 Altered CNV alleles to align with PharmVar; added PMIDs from PharmVar structural document; added "N/A" as activity score for unknown or uncertain function alleles
2019-12-05 FREQUENCY CYP2D6 Altered CNV alleles to align with PharmVar and added explanation to Methods tab. Removed duplicate row for PMID 12152006 and corrected typos for PMID 16537246.
2019-12-04 ALLELE_FUNCTION_REFERENCE CYP2C19 changed Required to Optional for Comments
2019-12-04 ALLELE_FUNCTION_REFERENCE CYP2C19 changed Required to Optional for PMID
2019-12-04 ALLELE_FUNCTION_REFERENCE CYP2C19 moved reviewer comments into the comment section
2019-12-02 ALLELE_DEFINITION DPYD changed nucleotides in the grid to reflect nucleotide change on the positive strand
2019-12-02 ALLELE_DEFINITION DPYD sorted variants to follow sequence
2019-11-19 ALLELE_FUNCTION_REFERENCE DPYD added AS of N/A to uncertain function alleles
2019-11-19 FREQUENCY CYP2D6 Removed PMIDs 22111604, 8873218 and 18797858 because they don't contain exact frequencies. Converted references sheet from percentage to decimal format and calculated average frequencies using weighted averages. Removed columns for structural rearrangements and alleles which are not PharmVar core alleles. Moved footnotes to methods tab.
2019-10-30 ALLELE_FUNCTION_REFERENCE DPYD added activity score and clinical allele function status for variants in row 28 to 99
2019-10-30 ALLELE_FUNCTION_REFERENCE DPYD changed Strength of evidence level from "In vitro data only and/or limited clinical/ex vivo data" to "Limited" and "uncertain" to "Inadequate"
2019-10-30 ALLELE_FUNCTION_REFERENCE DPYD changed c.1129-5923C>G (HapB3) to c.1129-5923C>G, c.1236G>A (HapB3) and added note
2019-10-30 ALLELE_FUNCTION_REFERENCE DPYD changed rs1801265 (*9A) to c.85T>C (*9A)
2019-10-30 FREQUENCY DPYD Updated to new standardized format and weighted average allele frequencies. Combined information in ExAC allele number tab and previous references tab into new references tab. Converted to biogeographical groups
2019-10-29 FREQUENCY SLCO1B1 Updated document to new standardized format and weighted average allele frequencies. Added all alleles from Allele Definition file and converted to biogeographical groups.
2019-10-29 FREQUENCY TPMT Updated to standardized format and weighted average allele frequencies. Converted to biogeographical groups.
2019-10-29 FREQUENCY UGT1A1 Updated document to new standardized format and weighted average allele frequencies. Added Methods tab and converted to biogeographical groups.
2019-10-28 ALLELE_DEFINITION CYP2D6 removed rsID from 3278T>C variant in *26
2019-10-28 FREQUENCY RYR1 Converted to PharmGKB biogeographical groups, added References, Methods and Change Log sheets. Average allele frequencies now calculated using weighted averages.
2019-10-28 FREQUENCY VKORC1 Updated to new standardized format and weighted average allele frequencies. Converted to biogeographical groups. Removed references with no information on rs9923231
2019-10-25 ALLELE_DEFINITION DPYD changed c.1129-5923C>G (HapB3) to c.1129-5923C>G, c.1236G>A (HapB3) and deleted c.483+18G>A column
2019-10-25 ALLELE_DEFINITION DPYD changed c.2657G>A (*9B) to c.85T>C, c.2657G>A (*9B)
2019-10-25 ALLELE_DEFINITION DPYD changed rs1801265 (*9A) to c.85T>C (*9A)
2019-10-25 FREQUENCY CYP4F2 Allele frequencies now in decimal format. Converted to biogeographical groups and weighted average allele frequencies, added Methods sheet and updated document to new standardized format
2019-10-25 FREQUENCY NUDT15 Converted to biogeographical groups and weighted allele frequencies. Updated document to new standardized format
2019-10-24 FREQUENCY CYP2C19 Changed average allele frequency calculations to weighted averages. Removed *4A, *4B, *20, *21 and *27 from References sheet as these are not PharmVar core alleles.
2019-10-24 FREQUENCY CYP3A5 Converted to PharmGKB biogeographical groups. Updated document to new standardized format and to use weighted average allele frequencies
2019-10-22 FREQUENCY CACNA1S Converted to PharmGKB biogeographical groups, added References, Methods and Change Log sheets. Average allele frequencies now calculated using weighted averages.
2019-10-22 FREQUENCY CYP2B6 Converted table to use PharmGKB biogeographical groups and updated to new standardized format. Average allele frequencies now calculated using weighted averages
2019-10-18 FREQUENCY CYP4F2 updated the allele name to match with the allele definition table
2019-10-18 FREQUENCY NUDT15 updated allele names on References tab to match Allele frequency by race tab
2019-10-18 FREQUENCY UGT1A1 updated allele names to match names in allele defintion file, and removed extraneous variant not found in definition and function files
2019-10-18 FREQUENCY VKORC1 updated allele name to match allele defintion table
2019-10-11 ALLELE_FUNCTION_REFERENCE CACNA1S Updated table notes
2019-10-11 ALLELE_FUNCTION_REFERENCE CFTR Updated table notes
2019-10-11 ALLELE_FUNCTION_REFERENCE CYP2B6 Updated table notes format
2019-10-11 ALLELE_FUNCTION_REFERENCE CYP2C9 Updated table notes format
2019-10-11 ALLELE_FUNCTION_REFERENCE G6PD Updated table notes
2019-10-11 ALLELE_FUNCTION_REFERENCE RYR1 Updated table notes; updated allele name to "c.7039_7041delGAG or c.7042_7044delGAG"
2019-10-10 ALLELE_FUNCTION_REFERENCE CFTR Updated format
2019-10-10 ALLELE_FUNCTION_REFERENCE G6PD Table created
2019-10-10 ALLELE_FUNCTION_REFERENCE SLCO1B1 Update table to new format, the functions for "*4, *7, *8, *11, *12, *13, *16, *18, *19, *20, *21, *22, *24, *25, *26, *27, *28, *29, *30, *32, *33, *34, *36" were left blank. They were grouped under "Unknown/unclear/contradictory evidence" in table S2
2019-10-10 FREQUENCY CYP2C19 deleted EN column from References tab
2019-10-09 ALLELE_DEFINITION CFTR Updated table format and added additional alleles from label
2019-10-09 ALLELE_FUNCTION_REFERENCE CACNA1S Updated to new format.
2019-10-09 ALLELE_FUNCTION_REFERENCE CYP3A5 Updated to new format. Added new alleles from PharmVar
2019-10-09 ALLELE_FUNCTION_REFERENCE NUDT15 Updated format
2019-10-09 ALLELE_FUNCTION_REFERENCE RYR1 Updated to new format.
2019-10-09 ALLELE_FUNCTION_REFERENCE TPMT Updated format
2019-10-09 ALLELE_FUNCTION_REFERENCE UGT1A1 Updated to new format
2019-10-08 ALLELE_DEFINITION CACNA1S Updated format, removed function column
2019-10-08 ALLELE_DEFINITION CYP3A5 Updated format, remove function column
2019-10-08 ALLELE_DEFINITION CYP4F2 Updated format, removed function column
2019-10-08 ALLELE_DEFINITION G6PD Updated format, removed function column
2019-10-08 ALLELE_DEFINITION IFNL3 Updated format, removed function column
2019-10-08 ALLELE_DEFINITION NUDT15 Updated table format and added alleles to be consistent with PharmVar
2019-10-08 ALLELE_DEFINITION RYR1 Updated format, removed function column
2019-10-08 ALLELE_DEFINITION SLCO1B1 Updated format, removed function column
2019-10-08 ALLELE_DEFINITION TPMT Updated format, removed function column
2019-10-08 ALLELE_DEFINITION UGT1A1 Updated format, removed function column
2019-10-08 ALLELE_DEFINITION VKORC1 Updated format, removed function column
2019-10-02 ALLELE_DEFINITION DPYD Update format
2019-10-02 ALLELE_FUNCTION_REFERENCE CYP2B6 Updated table to new format
2019-10-02 ALLELE_FUNCTION_REFERENCE DPYD Update format
2019-10-01 ALLELE_FUNCTION_REFERENCE CYP2C9 Added references for *9 and *10
2019-10-01 FREQUENCY CYP2D6 Phenotype frequecies calculated based on phenotype groupings proposed in PMID 31647186
2019-09-19 ALLELE_DEFINITION CYP2B6 The table represents the PharmVar core alleles (https://www.pharmvar.org/gene/CYP2B6) Version 4.1 Last Updated Sep 19 2019. Format change, function information removed.
2019-09-19 ALLELE_DEFINITION CYP2C19 *36 and *37 added
2019-09-19 ALLELE_DEFINITION CYP2C19 allele function column removed
2019-09-19 ALLELE_DEFINITION CYP2C19 change log created
2019-09-19 ALLELE_DEFINITION CYP2D6 added alleles up to *139
2019-09-19 ALLELE_DEFINITION CYP2D6 created change log
2019-09-19 ALLELE_DEFINITION CYP2D6 removed allele function column and function related notes
2019-09-19 FREQUENCY HLA-A version 1 created from existing data in former HLA allele frequency table, new references added, duplicate references removed, frequencies calculated using weighted averages and PharmGKB biogeographical groups applied
2019-09-19 FREQUENCY HLA-B Removed HLA-A*31:01 to create HLA-B frequency table. Added new references, removed duplicate references, calculated weighted average frequencies and applied PharmGKB biogeographical groups.
2019-09-13 FREQUENCY CYP2C19 added *36 and *37 to allele frequency by race
2019-09-11 ALLELE_FUNCTION_REFERENCE CYP2D6 Updated sheet to new format, added alleles with unknown function and new alleles from PharmVar (*115 to *139), added activity scores and new references
2019-09-05 ALLELE_DEFINITION CYP2C9 The table represents the PharmVar core alleles (https://www.pharmvar.org/gene/CYP2C9) Version 4.0 Last Updated May 7 2019. Format change, function information removed.
2019-09-05 ALLELE_FUNCTION_REFERENCE CYP2C9 Updated table to new format, added new alleles from PharmVar and new references. Made changes to functional assignments.
2019-08-30 ALLELE_FUNCTION_REFERENCE CYP2C19 added *36 and *37 alleles
2019-08-30 ALLELE_FUNCTION_REFERENCE CYP2C19 added 24945780 to PMID cell for *10
2019-08-30 ALLELE_FUNCTION_REFERENCE CYP2C19 added 27578295 to PMID cell for *23
2019-08-30 ALLELE_FUNCTION_REFERENCE CYP2C19 added 30464555 to PMID cell for *23, *29, 30, *31, *32, *33
2019-08-23 ALLELE_DEFINITION IFNL3 Added change log tab
2019-08-23 ALLELE_DEFINITION VKORC1 Added change log tab
2019-08-21 FREQUENCY CYP2C9 Changed allele frequency averages to weighted averages, altered average, MIN and MAX functions to return a blank cell if selected range is blank
2019-08-19 FREQUENCY CYP2C9 Converted percentage values to decimals
2019-08-15 ALLELE_DEFINITION RYR1 Added change log tab
2019-07-24 FREQUENCY CYP2C9 Added new * allele, updated references and updated text descriptions to reflect use of biogeographical groups
2019-07-17 FREQUENCY CYP2C19 Changed ethnicities to updated PharmGKB Biographical groups, and moved studies into new ethinicity categories as appropriate
2019-07-17 FREQUENCY CYP2C19 Removed studies PMID 23130019, 23249123 and 20712527 because these studies appeared to contain individuals of mixed ethnicities
2019-07-17 FREQUENCY CYP2C19 Removed studies containing mixed populations (rows 485-495 in original Excel file) since they do not fall under any of the ethnicity categories
2019-05-10 ALLELE_DEFINITION CFTR added 3272-26A>G, E831X as per table 3 ivacaftor label accessed May 2019
2019-05-10 ALLELE_DEFINITION CFTR removed G542, R553X, 1717-1G>A, 621+1G>T, R1162X, 3120+1G>A, 1898+1G>A, 3659delC, 2184delA. Variants have no recommendation but are part of the variants recommended by the American College of Medical Genetics (ACMG) Cystic Fibrosis Carrier Screening Working Group that should be tested to determine carrier status as a part of population screening programs PMID 15371902.
2019-05-10 ALLELE_DEFINITION CFTR removed G85E, N1303K, W1282X, I507del, R347P, R560T, R334W ivacaftor label states"... mutations in the CFTR gene do not meet the threshold of change in CFTR mediated chloride transport of at least 10% of normal over baseline" However, variants are part of the variants recommended by the American College of Medical Genetics (ACMG) Cystic Fibrosis Carrier Screening Working Group that should be tested to determine carrier status as a part of population screening programs PMID 15371902.
2019-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 combined *4A and *4B into *4 (PharmVar core allele release)
2019-05-07 ALLELE_FUNCTION_REFERENCE CYP2C19 removed *27, added *27 references into the *1 PMID cell (PharmVar re-assigned *27 as *1 suballele)
2019-04-19 ALLELE_FUNCTION_REFERENCE CFTR Added change log tab
2019-03-05 FREQUENCY NUDT15 updated phenotype frequencies with change for *9 from unknown function to no function
2019-02-08 FREQUENCY CYP2D6 removed He et al 2016 (PMID 27228982); rs28371703 does not tag *48; rs769157652 not exclusive to *27; not clear how alleles were called as SNP frequencies (Tab1) are not consistent with allele frequencies in Tab2
2019-01-25 FREQUENCY NUDT15 updated phenotype frequencies
2019-01-23 ALLELE_FUNCTION_REFERENCE NUDT15 Added change log tab
2019-01-18 ALLELE_DEFINITION DPYD Added guideline variants
2019-01-12 FREQUENCY NUDT15 updated diplotype and phenotype frequencies
2019-01-08 FREQUENCY CYP2D6 reclassified ethnicity groupings according to new standardized biogeographic grouping (Huddart et al PMID 30506572)
2018-12-19 FREQUENCY CYP2B6 Added PMID: 21886015 for columbian population
2018-12-15 FREQUENCY CYP2D6 calcutaed frequencies seperately for American and Latino
2018-12-14 FREQUENCY CYP2D6 removed all studies with mixed and/or unknown popualtion information from groupings; these are now listed in the bottom section
2018-12-12 FREQUENCY CYP2D6 added a total of 28 papers (EN 199-227) resulting in the addition of 50 discrete entries (highlighted in red)
2018-12-12 FREQUENCY CYP2D6 added coumn for *114; added note to *14 reading 'formerly *14B'
2018-12-06 FREQUENCY CYP2D6 added column for *3xN
2018-12-06 FREQUENCY CYP2D6 changed *36+*10x2 to *36+*10xN and *36x2+*10 to *36xN+*10; removed column for *36x3+*10
2018-09-26 ALLELE_DEFINITION G6PD Added change log tab
2018-09-17 ALLELE_DEFINITION CACNA1S Added change log tab
2018-07-06 FREQUENCY CYP2C9 Added new references and * alleles, edited allele frequency and reference sheets to be consistent with new PharmGKB biogeographical groups.
2018-07-03 FREQUENCY CYP2B6 Removed columns for snps found in multiple * alleles, and the corresponding references, added * alleles for which we have no information
2018-06-18 FREQUENCY NUDT15 updated frequency of *3 allele for African from Moriyama
2018-06-13 FREQUENCY CYP2B6 Version 1 created
2018-06-13 FREQUENCY NUDT15 updated some wording on methods tab
2018-06-13 FREQUENCY TPMT updated some wording on methods tab & URL in footnote on Allele Frequency by Race tab
2018-04-27 FREQUENCY NUDT15 removed *3 and *6 frequencies from references where *2 was not calculated
2018-04-26 FREQUENCY TPMT keeping refs with frequencies with *3A calculated for *3A, *3B, *3C
2018-04-25 ALLELE_DEFINITION TPMT released
2018-04-25 FREQUENCY TPMT updated *41 and *22 frequencies; corrected typo in footnote
2018-04-23 ALLELE_DEFINITION SLCO1B1 Added change log tab
2018-04-20 FREQUENCY NUDT15 updated frequencies and sources
2018-04-20 FREQUENCY TPMT updated frequencies and sources
2018-01-29 FREQUENCY TPMT Version 1 created
2018-01-20 FREQUENCY NUDT15 Version 1 created
2017-11-03 ALLELE_DEFINITION UGT1A1 Added change log tab
2017-11-03 FREQUENCY CYP2C19 updated diplotype frequencies
2017-08-11 FREQUENCY HLA-B update 57:01 and 58:01 frequencies
2017-06-28 FREQUENCY DPYD Added note about HapB3 and 1129-5923C>G
2017-06-19 FREQUENCY DPYD Added nucleotide and protein changes
2017-02-22 FREQUENCY CYP4F2 updated allele with * nomenclature
2017-02-21 FREQUENCY CYP2C9 updated footnotes
2017-02-13 FREQUENCY CYP2C19 updated the footnotes on the "Allele frequency by race" tab
2017-02-13 FREQUENCY CYP2C9 updated footnotes
2017-02-13 FREQUENCY CYP3A5 updated footnotes
2017-02-13 FREQUENCY CYP4F2 updated footnotes
2017-02-13 FREQUENCY SLCO1B1 updated footnotes
2017-02-13 FREQUENCY VKORC1 updated footnotes
2017-02-08 FREQUENCY UGT1A1 Alie Fohner created v 1
2017-01-15 FREQUENCY HLA-B version 1
2016-11-08 ALLELE_DEFINITION CYP4F2 Added change log tab
2016-11-08 FREQUENCY CYP2C9 Link added for CYP2C9 Allele definition Table on Allele frequency by race tab
2016-11-04 FREQUENCY CYP2C9 St Jude added tabs for Diplotype frequency by race, Phenotype frequency by race, Methods
2016-09-27 ALLELE_DEFINITION CYP3A5 Added change log tab
2016-09-08 FREQUENCY CYP2C9 PharmGKB created version 1
2016-09-08 FREQUENCY CYP4F2 created version 1
2016-09-08 FREQUENCY VKORC1 Li Gong created version 1
2016-07-15 FREQUENCY CYP2D6 all sections were sorted by columns E-B-A (ethnicity-year-author)
2016-07-14 FREQUENCY CYP2D6 added 30 papers
2016-05-31 FREQUENCY CYP2D6 added column for *1+*83 and approximate frequency
2016-05-31 FREQUENCY CYP2D6 added columns for *107, *108 and *109 and added ethnicity of subject in which respective allele was detected
2016-05-31 FREQUENCY CYP2D6 added one column for *87-*98 and annotated as 'detected'
2016-05-30 FREQUENCY CYP2C19 added 3 papers
2016-05-27 FREQUENCY CYP2C19 4 studies on Chinese were in Central/South Asian category - moved to East Asia
2016-05-27 FREQUENCY CYP2C19 added 25 papers
2016-05-11 FREQUENCY CYP2C19 added 16 papers
2016-05-11 FREQUENCY CYP2C19 changed *27 annotation for Hu et al from 0 to not tested (sequencing does not include the upstream *27 tag SNP); frequency changes to n/a
2016-05-11 FREQUENCY CYP2C19 corrected ethnicity for Larssen et al (line 333) to Europe
2016-02-09 FREQUENCY SLCO1B1 Created version 1
2015-08-25 FREQUENCY CYP2C19 added 8 papers
2015-01-02 FREQUENCY CYP2D6 added 1 paper
2014-12-08 FREQUENCY CYP2D6 studies used for *1 calculations are highlighted in blue
2014-11-14 FREQUENCY CYP2D6 added 1 paper
2014-11-03 FREQUENCY CYP2D6 Flagged studies (blue) to be included into *1 calculations
2014-11-03 FREQUENCY CYP2D6 included column to calculate sum of variants for studies and the sume of the averages of variants
2014-10-30 FREQUENCY CYP2D6 Moved Ashkenazi Jews from Europe to other (consistent with 2C19 frequency table)
2014-10-30 FREQUENCY CYP2D6 added column for *75
2014-10-30 FREQUENCY CYP2D6 papers added for R2 changed from red to black; new papers added for R3 changed to red
2014-10-30 FREQUENCY CYP2D6 sorted by columns E-B-A (ethnicity-year-author)
2014-10-28 FREQUENCY CYP2D6 added 9 papers
2013-09-09 FREQUENCY CYP2D6 Added data for *1, *2 and *35 received from Ana Santander for PMID 23922954
2013-08-30 FREQUENCY CYP2D6 have not heard back from Zafra-Ceres to confirm allele freq
2013-08-29 FREQUENCY CYP2D6 correponded with Antunes; mistake in paper re some freq;
2013-08-28 FREQUENCY CYP2D6 excluded Zihlif et al. *10 incorrectly called; corresponded with author revealing this mishap
2013-08-17 FREQUENCY CYP2D6 corrected *76+*2 to *76+*1
2013-08-16 FREQUENCY CYP2D6 added 1 paper with 'unspecified' ethnicity and approximate frequency
2013-08-16 FREQUENCY CYP2D6 added 1 paper with approxomate frequency
2013-08-16 FREQUENCY CYP2D6 added 2 papers (2 line entries) for Africa
2013-08-16 FREQUENCY CYP2D6 added 4 papers (6 line entires) for Americas
2013-08-16 FREQUENCY CYP2D6 added 5 papers (5 line entries( for Europe
2013-08-16 FREQUENCY CYP2D6 added 5 papers (6 line entires) for East Asia
2013-08-16 FREQUENCY CYP2D6 added columns for *61, *62, *84, *85, *86, *100, *101, *36x3+*10 and *1x2+*83
2013-08-16 FREQUENCY CYP2D6 added number of subjects for Ebisawa et al.
2013-08-16 FREQUENCY CYP2D6 added number of subjects for Yin et al. and updated year of publication
2013-08-16 FREQUENCY CYP2D6 corrected entries for *13 'revised' for all ethnicities (0 was incorrect for most)
2013-08-16 FREQUENCY CYP2D6 revised/updated ethnicities and populations for Americas
2013-08-16 FREQUENCY CYP2D6 sorted ethnicities by 1) major ethnicity, 2) population, 3) year and 4) author
2013-08-13 FREQUENCY CYP2D6 corrected spelling of von Ahsen
2010-10-09 ALLELE_DEFINITION CYP3A5 removed core allele tab