ClinVar for Gene (Select 54490) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330878	NM_053039.2(UGT2B28):c.701A>G (p.Gln234Arg)	UGT2B28 (Q234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330877	NM_053039.2(UGT2B28):c.1231G>C (p.Ala411Pro)	UGT2B28 (A411P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330876	NM_053039.2(UGT2B28):c.556G>A (p.Gly186Arg)	UGT2B28 (G186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330875	NM_053039.2(UGT2B28):c.833G>A (p.Gly278Glu)	UGT2B28 (G278E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330874	NM_053039.2(UGT2B28):c.850C>A (p.Pro284Thr)	UGT2B28 (P284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330873	NM_053039.2(UGT2B28):c.820A>G (p.Ile274Val)	UGT2B28 (I274V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330872	NM_053039.2(UGT2B28):c.485C>A (p.Ala162Glu)	UGT2B28 (A162E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330871	NM_053039.2(UGT2B28):c.1216A>C (p.Met406Leu)	UGT2B28 (M406L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330870	NM_053039.2(UGT2B28):c.1519G>A (p.Val507Ile)	UGT2B28 (V507I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3330869	NM_053039.2(UGT2B28):c.276A>C (p.Gln92His)	UGT2B28 (Q92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257362	NM_053039.2(UGT2B28):c.951A>G (p.Thr317=)	UGT2B28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3186216	NM_053039.2(UGT2B28):c.838C>T (p.Leu280Phe)	UGT2B28 (L280F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186215	NM_053039.2(UGT2B28):c.632T>C (p.Val211Ala)	UGT2B28 (V211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186214	NM_053039.2(UGT2B28):c.606T>A (p.Ser202Arg)	UGT2B28 (S202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186213	NM_053039.2(UGT2B28):c.223G>A (p.Glu75Lys)	UGT2B28 (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186212	NM_053039.2(UGT2B28):c.1490T>C (p.Leu497Pro)	UGT2B28 (L497P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3186211	NM_053039.2(UGT2B28):c.1418C>A (p.Ala473Asp)	UGT2B28 (A473D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3186210	NM_053039.2(UGT2B28):c.1252C>A (p.His418Asn)	UGT2B28 (H418N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186209	NM_053039.2(UGT2B28):c.1123G>C (p.Gly375Arg)	UGT2B28 (G375R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186208	NM_053039.2(UGT2B28):c.1072C>T (p.Pro358Ser)	UGT2B28 (P358S)	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 2654789	NM_053039.2(UGT2B28):c.1522G>A (p.Val508Ile)	UGT2B28 (V508I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2654788	NM_053039.2(UGT2B28):c.1310+6T>C	UGT2B28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654787	NM_053039.2(UGT2B28):c.684T>C (p.Asp228=)	UGT2B28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654786	NM_053039.2(UGT2B28):c.501G>A (p.Pro167=)	UGT2B28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654785	NM_053039.2(UGT2B28):c.90C>T (p.Thr30=)	UGT2B28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614371	NM_053039.2(UGT2B28):c.1272C>A (p.Asp424Glu)	UGT2B28 (D424E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596334	NM_053039.2(UGT2B28):c.581T>C (p.Ile194Thr)	UGT2B28 (I194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592762	NM_053039.2(UGT2B28):c.1439C>A (p.Ala480Asp)	UGT2B28 (A480D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2589989	NM_053039.2(UGT2B28):c.680G>C (p.Cys227Ser)	UGT2B28 (C227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570349	NM_053039.2(UGT2B28):c.947T>G (p.Met316Arg)	UGT2B28 (M316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569940	NM_053039.2(UGT2B28):c.776G>A (p.Arg259Gln)	UGT2B28 (R259Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561171	NM_053039.2(UGT2B28):c.357T>A (p.Phe119Leu)	UGT2B28 (F119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551898	NM_053039.2(UGT2B28):c.839T>C (p.Leu280Pro)	UGT2B28 (L280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532409	NM_053039.2(UGT2B28):c.647A>G (p.Tyr216Cys)	UGT2B28 (Y216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528323	NM_053039.2(UGT2B28):c.1306C>A (p.Pro436Thr)	UGT2B28 (P436T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511556	NM_053039.2(UGT2B28):c.1055G>A (p.Arg352Gln)	UGT2B28 (R352Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479276	NM_053039.2(UGT2B28):c.1481T>C (p.Ile494Thr)	UGT2B28 (I494T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2473263	NM_053039.2(UGT2B28):c.815C>T (p.Pro272Leu)	UGT2B28 (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410064	NM_053039.2(UGT2B28):c.196C>T (p.Pro66Ser)	UGT2B28 (P66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372253	NM_053039.2(UGT2B28):c.389T>C (p.Val130Ala)	UGT2B28 (V130A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368456	NM_053039.2(UGT2B28):c.553G>A (p.Gly185Arg)	UGT2B28 (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362912	NM_053039.2(UGT2B28):c.92G>C (p.Gly31Ala)	UGT2B28 (G31A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362911	NM_053039.2(UGT2B28):c.88A>G (p.Thr30Ala)	UGT2B28 (T30A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359253	NM_053039.2(UGT2B28):c.302A>G (p.Gln101Arg)	UGT2B28 (Q101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349809	NM_053039.2(UGT2B28):c.953C>A (p.Ala318Glu)	UGT2B28 (A318E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339854	NM_053039.2(UGT2B28):c.1124G>A (p.Gly375Asp)	UGT2B28 (G375D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336359	NM_053039.2(UGT2B28):c.625G>C (p.Glu209Gln)	UGT2B28 (E209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328395	NM_053039.2(UGT2B28):c.425A>G (p.Glu142Gly)	UGT2B28 (E142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303381	NM_053039.2(UGT2B28):c.872A>G (p.Glu291Gly)	UGT2B28 (E291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273031	NM_053039.2(UGT2B28):c.1399G>T (p.Val467Leu)	UGT2B28 (V467L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2271938	NM_053039.2(UGT2B28):c.1433T>C (p.Val478Ala)	UGT2B28 (V478A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2245004	NM_053039.2(UGT2B28):c.302A>C (p.Gln101Pro)	UGT2B28 (Q101P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242640	NM_053039.2(UGT2B28):c.749T>C (p.Met250Thr)	UGT2B28 (M250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232105	NM_053039.2(UGT2B28):c.1028A>C (p.Lys343Thr)	UGT2B28 (K343T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229996	NM_053039.2(UGT2B28):c.443T>C (p.Ile148Thr)	UGT2B28 (I148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224402	NM_053039.2(UGT2B28):c.495C>A (p.Asn165Lys)	UGT2B28 (N165K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219746	NM_053039.2(UGT2B28):c.1070T>C (p.Ile357Thr)	UGT2B28 (I357T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219179	NM_053039.2(UGT2B28):c.91G>A (p.Gly31Ser)	UGT2B28 (G31S)	Single nucleotide variant (missense variant)	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	BTC, CABS1 +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 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 786514	NM_053039.2(UGT2B28):c.247A>G (p.Lys83Glu)	UGT2B28 (K83E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783421	NM_053039.2(UGT2B28):c.1081G>T (p.Asp361Tyr)	UGT2B28 (D361Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 778310	NM_053039.2(UGT2B28):c.966C>T (p.Asn322=)	UGT2B28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770903	NM_053039.2(UGT2B28):c.205G>A (p.Ala69Thr)	UGT2B28 (A69T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562927	GRCh37/hg19 4q13.2-13.3(chr4:70012338-71167321)x3	CSN1S1, SULT1E1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 562926	GRCh37/hg19 4q13.2-13.3(chr4:69717201-70563328)x1	UGT2A1, UGT2B4 +5 more	Copy number loss	not provided	GLikely benign
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 160854	GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3	LOC105377267, LOC111589210 +21 more	Copy number gain	See cases	GUncertain significance
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 155054	GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 154795	GRCh38/hg38 4q13.2(chr4:69290388-69358840)x3	LOC129389216, UGT2B28	Copy number gain	See cases	GLikely benign
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 152287	GRCh38/hg38 4q13.2-13.3(chr4:68796335-69850009)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 150984	GRCh38/hg38 4q13.2-13.3(chr4:69148377-69464746)x1	LOC105377267, LOC129389215 +3 more	Copy number loss	See cases	GLikely benign
Select item 149623	GRCh38/hg38 4q13.2(chr4:69290388-69358840)x1	LOC129389216, UGT2B28	Copy number loss	See cases	GLikely benign
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 147894	GRCh38/hg38 4q13.2-13.3(chr4:68537073-69610311)x3	LOC105377267, LOC111589210 +18 more	Copy number gain	See cases	GBenign
Select item 147584	GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3	AMBN, AMTN +38 more	Copy number gain	See cases	GPathogenic
Select item 147054	GRCh38/hg38 4q13.2(chr4:69259413-69316429)x3	UGT2B28	Copy number gain	See cases	GBenign
Select item 146970	GRCh38/hg38 4q13.2(chr4:69288177-69364412)x3	LOC129389216, UGT2B28	Copy number gain	See cases	GBenign
Select item 146942	GRCh38/hg38 4q13.2(chr4:69288177-69337501)x3	UGT2B28	Copy number gain	See cases	GBenign
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 97