ClinVar for Gene (Select 7364) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330887	NM_001074.4(UGT2B7):c.716T>A (p.Val239Asp)	UGT2B7 (V239D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330886	NM_001074.4(UGT2B7):c.466T>C (p.Cys156Arg)	UGT2B7 (C156R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186234	NM_001074.4(UGT2B7):c.876G>A (p.Met292Ile)	UGT2B7 (M43I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186233	NM_001074.4(UGT2B7):c.722G>A (p.Gly241Glu)	LOC114803476, UGT2B7 (G241E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186232	NM_001074.4(UGT2B7):c.608A>G (p.Asp203Gly)	UGT2B7 (D203G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186231	NM_001074.4(UGT2B7):c.281T>G (p.Ile94Ser)	UGT2B7 (I94S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186230	NM_001074.4(UGT2B7):c.1288A>C (p.Lys430Gln)	UGT2B7 (K181Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186229	NM_001074.4(UGT2B7):c.1185G>C (p.Leu395Phe)	UGT2B7 (L146F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2609785	NM_001074.4(UGT2B7):c.1265G>C (p.Ser422Thr)	UGT2B7 (S422T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567683	NM_001074.4(UGT2B7):c.166C>G (p.Leu56Val)	UGT2B7 (L56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518170	NM_001074.4(UGT2B7):c.178G>T (p.Ala60Ser)	UGT2B7 (A60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511032	NM_001074.4(UGT2B7):c.256T>A (p.Leu86Met)	UGT2B7 (L86M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477361	NM_001074.4(UGT2B7):c.1040T>C (p.Leu347Ser)	UGT2B7 (L98S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458892	NM_001074.4(UGT2B7):c.1337C>T (p.Ser446Leu)	UGT2B7 (S197L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455453	NM_001074.4(UGT2B7):c.1244T>A (p.Val415Glu)	UGT2B7 (V166E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403873	NM_001074.4(UGT2B7):c.187C>A (p.Leu63Ile)	UGT2B7 (L63I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384109	NM_001074.4(UGT2B7):c.1313A>G (p.Tyr438Cys)	UGT2B7 (Y189C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368146	NM_001074.4(UGT2B7):c.1258A>G (p.Met420Val)	UGT2B7 (M420V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367334	NM_001074.4(UGT2B7):c.1154A>G (p.Tyr385Cys)	UGT2B7 (Y136C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337017	NM_001074.4(UGT2B7):c.1033G>A (p.Asp345Asn)	UGT2B7 (D96N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329527	NM_001074.4(UGT2B7):c.1265G>A (p.Ser422Asn)	UGT2B7 (S173N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300684	NM_001074.4(UGT2B7):c.934A>G (p.Met312Val)	UGT2B7 (M312V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287950	NM_001074.4(UGT2B7):c.683A>T (p.Asp228Val)	UGT2B7 (D228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260874	NM_001074.4(UGT2B7):c.1160G>A (p.Gly387Glu)	UGT2B7 (G387E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250522	NM_001074.4(UGT2B7):c.737T>C (p.Leu246Ser)	LOC114803476, UGT2B7 (L246S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210314	NM_001074.4(UGT2B7):c.686T>C (p.Met229Thr)	UGT2B7 (M229T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808523	GRCh37/hg19 4q13.2-13.3(chr4:69661413-70724847)x3	UGT2A1, UGT2A2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
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 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 829041	NM_001074.4(UGT2B7):c.721+88del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829040	NM_001074.4(UGT2B7):c.721+98del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829039	NM_001074.4(UGT2B7):c.721+191T>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829038	NM_001074.4(UGT2B7):c.721+193T>G	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829037	NM_001074.4(UGT2B7):c.721+201A>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829036	NM_001074.4(UGT2B7):c.721+206C>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829035	NM_001074.4(UGT2B7):c.721+209A>G	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829034	NM_001074.4(UGT2B7):c.721+216C>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829033	NM_001074.4(UGT2B7):c.721+238C>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829032	NM_001074.4(UGT2B7):c.721+272T>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829031	NM_001074.4(UGT2B7):c.721+281C>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829030	NM_001074.4(UGT2B7):c.721+326A>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829029	NM_001074.4(UGT2B7):c.722-229G>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829028	NM_001074.4(UGT2B7):c.722-181C>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829027	NM_001074.4(UGT2B7):c.722-135A>G	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829026	NM_001074.4(UGT2B7):c.722-78T>C	LOC114803476, UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829025	NM_001074.4(UGT2B7):c.1002+4del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829024	NM_001074.4(UGT2B7):c.1002+22G>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829023	NM_001074.4(UGT2B7):c.1002+52del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829022	NM_001074.4(UGT2B7):c.1002+88A>G	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829021	NM_001074.4(UGT2B7):c.1002+90G>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829020	NM_001074.4(UGT2B7):c.1002+98G>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829019	NM_001074.4(UGT2B7):c.1002+100C>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829018	NM_001074.4(UGT2B7):c.1002+114del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829017	NM_001074.4(UGT2B7):c.1002+118G>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829016	NM_001074.4(UGT2B7):c.1002+133del	UGT2B7	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829015	NM_001074.4(UGT2B7):c.1003-52T>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829014	NM_001074.4(UGT2B7):c.1003-51A>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829013	NM_001074.4(UGT2B7):c.1003-48A>T	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829012	NM_001074.4(UGT2B7):c.1003-47C>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829011	NM_001074.4(UGT2B7):c.1003-45T>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829010	NM_001074.4(UGT2B7):c.1003-44T>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829009	NM_001074.4(UGT2B7):c.1246G>A (p.Asp416Asn)	UGT2B7 (D167N +1 more)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829008	NM_001074.4(UGT2B7):c.1270G>A (p.Asp424Asn)	UGT2B7 (D424N +1 more)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829007	NM_001074.4(UGT2B7):c.1306C>A (p.Pro436Thr)	UGT2B7 (P187T +1 more)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829006	NM_001074.4(UGT2B7):c.1310+5G>A	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829005	NM_001074.4(UGT2B7):c.1311-18T>C	UGT2B7	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829004	NM_001074.4(UGT2B7):c.1435G>A (p.Ala479Thr)	UGT2B7 (A230T +1 more)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829003	NM_001074.4(UGT2B7):c.1439C>G (p.Ala480Gly)	UGT2B7 (A231G +1 more)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829002	NM_001074.4(UGT2B7):c.1455G>A (p.Trp485Ter)	UGT2B7 (W236* +1 more)	Single nucleotide variant (nonsense +1 more)	Tramadol response	Gdrug response
Select item 829001	NM_001074.4(UGT2B7):c.1470T>C (p.Ser490=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 829000	NM_001074.4(UGT2B7):c.1485G>T (p.Gly495=)	UGT2B7	Single nucleotide variant (synonymous variant +1 more)	Tramadol response	Gdrug response
Select item 828999	NM_001074.4(UGT2B7):c.1532G>A (p.Cys511Tyr)	UGT2B7 (C511Y +1 more)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 828998	NM_001074.4(UGT2B7):c.*6T>C	UGT2B7	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828997	NM_001074.4(UGT2B7):c.*188G>A	UGT2B7	Single nucleotide variant (3 prime UTR 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

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