"clinsig drug response"[Properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 523173	NM_006015.6(ARID1A):c.4480C>T (p.Gln1494Ter)	ARID1A (Q1494*)	Single nucleotide variant (nonsense +1 more)	AKT1 Inhibitor response	Gdrug response
Select item 2573328	NM_000792.7(DIO1):c.682-34C>A	DIO1	Single nucleotide variant (intron variant)	Levothyroxine response	Gdrug response
Select item 635267	NM_000110.4(DPYD):c.2983G>T (p.Val995Phe)	DPYD (V995F)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 88974	NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	DPYD (D949V)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 287480	NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	DPYD, DPYD-AS1 (T768K)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 100080	NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)	DPYD, DPYD-AS1 (V732I)	Single nucleotide variant (missense variant)	fluorouracil response - Other +2 more	Gdrug response
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response
Select item 635266	NM_000110.4(DPYD):c.1898del (p.Pro633fs)	DPYD (P633fs)	Deletion (frameshift variant)	fluorouracil response - Other	Gdrug response
Select item 100088	NM_000110.4(DPYD):c.1896T>C (p.Phe632=)	DPYD	Single nucleotide variant (synonymous variant)	fluorouracil response - Toxicity +1 more	Gdrug response
Select item 282919	NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)	DPYD (R592W)	Single nucleotide variant (missense variant)	fluorouracil response - Other +1 more	Gdrug response
Select item 88975	NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	DPYD (I560S)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 100092	NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)	DPYD (I543V)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 100094	NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)	DPYD (S534N)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 1327419	NM_000110.4(DPYD):c.1543G>A (p.Val515Ile)	DPYD (V515I)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 100100	NM_000110.4(DPYD):c.1236G>A (p.Glu412=)	DPYD	Single nucleotide variant (synonymous variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 1032887	NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter)	DPYD (E386*)	Single nucleotide variant (nonsense)	fluorouracil response - Other +1 more	Gdrug response
Select item 635263	NM_000110.4(DPYD):c.1129-5923C>G	DPYD	Single nucleotide variant (intron variant)	fluorouracil response - Other +2 more	Gdrug response
Select item 1327416	NM_000110.4(DPYD):c.1003G>T (p.Val335Leu)	DPYD (V335L)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 298300	NM_000110.4(DPYD):c.703C>T (p.Arg235Trp)	DPYD (R235W)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 100113	NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	DPYD (Y186C)	Single nucleotide variant (missense variant)	fluorouracil response - Other +1 more	Gdrug response
Select item 100116	NM_000110.4(DPYD):c.496A>G (p.Met166Val)	DPYD (M166V)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 435	NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)	DPYD (C29R)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 1274004	NM_000862.3(HSD3B1):c.1100C>A (p.Thr367Asn)	HSD3B1 (T367N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign; drug response
Select item 620577	NM_000862.3(HSD3B1):c.1100= (p.Thr367=)	HSD3B1	Single nucleotide variant (no sequence alteration)	Androgen deprivation therapy response	Gdrug response
Select item 642	NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	F5 (R534Q)	Single nucleotide variant (missense variant)	hormonal contraceptives for systemic use response - Toxicity	Gdrug response
Select item 236184	NM_014625.4(NPHS2):c.451+58A>T	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236185	NM_014625.4(NPHS2):c.451+23C>T	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236186	NM_014625.4(NPHS2):c.378+42T>G	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236187	NM_014625.4(NPHS2):c.275-56T>G	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236188	NM_014625.4(NPHS2):c.104G>A (p.Gly35Asp)	NPHS2 (G35D)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236189	NM_014625.4(NPHS2):c.-79G>A	NPHS2	Single nucleotide variant (5 prime UTR variant)	Prednisolone response	Gdrug response
Select item 17626	NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)	CACNA1S (R1086H)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +6 more	Gdrug response
Select item 575733	NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	CACNA1S (R174W)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +6 more	Gdrug response
Select item 2683835	NM_001130009.3(GEN1):c.2152C>T (p.His718Tyr)	GEN1 (H718Y)	Single nucleotide variant (missense variant)	Olaparib response	Gdrug response
Select item 336258	NM_001430.5(EPAS1):c.1035-7C>G	EPAS1	Single nucleotide variant (intron variant)	sorafenib response - Toxicity	Gdrug response
Select item 12897	NM_001165963.4(SCN1A):c.603-91G>A	SCN1A	Single nucleotide variant (intron variant)	carbamazepine response - Dosage	Gdrug response
Select item 225999	NM_004044.7(ATIC):c.1503+675T>C	ATIC	Single nucleotide variant (intron variant)	methotrexate response - Efficacy	Gdrug response
Select item 810732	NC_000002.12:g.233757136G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	irinotecan response - Toxicity	Gdrug response
Select item 549829	UGT1A1*37	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A3, UGT1A4 +8 more	Microsatellite (intron variant)	Irinotecan response +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 549830	UGT1A1*36	UGT1A5, UGT1A6 +8 more	Microsatellite (intron variant)	not provided +1 more	GBenign; drug response
Select item 549828	UGT1A1*1	UGT1A9, UGT1A10 +8 more	Microsatellite (intron variant)	Irinotecan response	Gdrug response
Select item 12280	UGT1A1*6	UGT1A6, UGT1A7 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	Irinotecan response +5 more	GConflicting classifications of pathogenicity; drug response
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523171	NM_014159.7(SETD2):c.5143-1G>A	SETD2	Single nucleotide variant (splice acceptor variant)	Wee1 Inhibitor response	Gdrug response
Select item 981940	NM_002292.4(LAMB2):c.712+88G>A	LAMB2	Single nucleotide variant (intron variant)	Corticosteroids response	Gdrug response
Select item 547170	NM_000055.4(BCHE):c.2T>C (p.Met1Thr)	BCHE (M1T)	Single nucleotide variant (missense variant +2 more)	Suxamethonium response - slow metabolism	Gdrug response
Select item 375896	NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	PIK3CA (E545Q)	Single nucleotide variant (missense variant)	Small cell lung carcinoma +26 more	GPathogenic/Likely pathogenic; drug response
Select item 18274	NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp)	ADD1 (G460W)	Single nucleotide variant (missense variant)	hydrochlorothiazide response - Efficacy	Gdrug response
Select item 829059	NM_001349568.2(UGT2B7):c.-26-2193C>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829058	NM_001349568.2(UGT2B7):c.-26-2192T>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829057	NM_001349568.2(UGT2B7):c.-26-2191T>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829056	NM_001349568.2(UGT2B7):c.-26-2181C>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828262	NM_001349568.2(UGT2B7):c.-26-2180T>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828261	NM_001349568.2(UGT2B7):c.-26-2165C>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828260	NM_001349568.2(UGT2B7):c.-26-2157G>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828259	NM_001349568.2(UGT2B7):c.-26-2086del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 828258	NM_001349568.2(UGT2B7):c.-26-2085G>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828257	NM_001074.4(UGT2B7):c.-7C>T	UGT2B7	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 828256	NM_001074.4(UGT2B7):c.30G>A (p.Leu10=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 828255	NM_001074.4(UGT2B7):c.37C>T (p.Gln13Ter)	UGT2B7 (Q13*)	Single nucleotide variant (nonsense +1 more)	Tramadol response	Gdrug response
Select item 828254	NM_001074.4(UGT2B7):c.40C>T (p.Leu14=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 828253	NM_001074.4(UGT2B7):c.44G>A (p.Ser15Asn)	UGT2B7 (S15N)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828252	NM_001074.4(UGT2B7):c.50del (p.Cys17fs)	UGT2B7 (C17fs)	Deletion (frameshift variant +1 more)	Tramadol response	Gdrug response
Select item 828251	NM_001074.4(UGT2B7):c.59C>T (p.Ser20Phe)	UGT2B7 (S20F)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828250	NM_001074.4(UGT2B7):c.111G>A (p.Met37Ile)	UGT2B7 (M37I)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828249	NM_001074.4(UGT2B7):c.116T>G (p.Ile39Arg)	UGT2B7 (I39R)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828248	NM_001074.4(UGT2B7):c.125T>C (p.Ile42Thr)	UGT2B7 (I42T)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828247	NM_001074.4(UGT2B7):c.130G>A (p.Asp44Asn)	UGT2B7 (D44N)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829055	NM_001074.4(UGT2B7):c.151C>T (p.His51Tyr)	UGT2B7 (H51Y)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829054	NM_001074.4(UGT2B7):c.210del (p.Ala71fs)	UGT2B7 (A71fs)	Deletion (frameshift variant +1 more)	Tramadol response	Gdrug response
Select item 829053	NM_001074.4(UGT2B7):c.211G>T (p.Ala71Ser)	UGT2B7 (A71S)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829052	NM_001074.4(UGT2B7):c.280A>T (p.Ile94Phe)	UGT2B7 (I94F)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829051	NM_001074.4(UGT2B7):c.302C>T (p.Pro101Leu)	UGT2B7 (P101L)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829050	NM_001074.4(UGT2B7):c.319T>C (p.Leu107=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 829049	NM_001074.4(UGT2B7):c.334G>A (p.Val112Ile)	UGT2B7 (V112I)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829048	NM_001074.4(UGT2B7):c.345C>T (p.Ile115=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 829047	NM_001074.4(UGT2B7):c.348G>A (p.Met116Ile)	UGT2B7 (M116I)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829046	NM_001074.4(UGT2B7):c.358G>C (p.Gly120Arg)	UGT2B7 (G120R)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829045	NM_001074.4(UGT2B7):c.370del (p.Arg124fs)	UGT2B7 (R124fs)	Deletion (frameshift variant +1 more)	Tramadol response	Gdrug response
Select item 829044	NM_001074.4(UGT2B7):c.372A>G (p.Arg124=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 829043	NM_001074.4(UGT2B7):c.381_382del (p.Cys127_Lys128delinsTer)	UGT2B7	Deletion (nonsense +1 more)	Tramadol response	Gdrug response
Select item 829042	NM_001074.4(UGT2B7):c.393T>G (p.Val131=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 828246	NM_001074.4(UGT2B7):c.417del (p.Val140fs)	UGT2B7 (V140fs)	Deletion (frameshift variant +1 more)	Tramadol response	Gdrug response
Select item 828245	NM_001074.4(UGT2B7):c.428C>T (p.Ser143Leu)	UGT2B7 (S143L)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828244	NM_001074.4(UGT2B7):c.438C>T (p.Asp146=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 828243	NM_001074.4(UGT2B7):c.495C>T (p.Asn165=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 828242	NM_001074.4(UGT2B7):c.499C>T (p.Pro167Ser)	UGT2B7 (P167S)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828241	NM_001074.4(UGT2B7):c.534del (p.Gly177_Tyr178insTer)	UGT2B7	Deletion (nonsense +1 more)	Tramadol response	Gdrug response
Select item 828240	NM_001074.4(UGT2B7):c.543A>C (p.Glu181Asp)	UGT2B7 (E181D)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828239	NM_001074.4(UGT2B7):c.599A>G (p.Glu200Gly)	UGT2B7 (E200G)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828238	NM_001074.4(UGT2B7):c.638del (p.Asn213fs)	UGT2B7 (N213fs)	Deletion (frameshift variant +1 more)	Tramadol response	Gdrug response
Select item 828237	NM_001074.4(UGT2B7):c.649G>A (p.Val217Met)	UGT2B7 (V217M)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828236	NM_001074.4(UGT2B7):c.651G>T (p.Val217=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 828235	NM_001074.4(UGT2B7):c.663C>A (p.Asp221Glu)	UGT2B7 (D221E)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828234	NM_001074.4(UGT2B7):c.721+3A>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828233	NM_001074.4(UGT2B7):c.721+80G>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828232	NM_001074.4(UGT2B7):c.721+86del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829041	NM_001074.4(UGT2B7):c.721+88del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response

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