UGT2A3[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
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 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
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 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 155511	GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3	LOC105377267, LOC111589210 +11 more	Copy number gain	See cases	GUncertain significance
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 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
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 155054	GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
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 147584	GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3	AMBN, AMTN +38 more	Copy number gain	See cases	GPathogenic
Select item 2270939	NM_024743.4(UGT2A3):c.1580A>G (p.Glu527Gly)	LOC126807070, UGT2A3 (E527G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238294	NM_024743.4(UGT2A3):c.1538C>T (p.Ser513Phe)	LOC126807070, UGT2A3 (S513F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186153	NM_024743.4(UGT2A3):c.1515G>T (p.Leu505Phe)	LOC126807070, UGT2A3 (L505F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588708	NM_024743.4(UGT2A3):c.1441C>T (p.Leu481Phe)	LOC126807070, UGT2A3 (L481F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186152	NM_024743.4(UGT2A3):c.1424G>C (p.Arg475Pro)	LOC126807070, UGT2A3 (R475P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411412	NM_024743.4(UGT2A3):c.1400G>A (p.Arg467His)	LOC126807070, UGT2A3 (R467H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330490	NM_024743.4(UGT2A3):c.1399C>T (p.Arg467Cys)	LOC126807070, UGT2A3 (R467C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469789	NM_024743.4(UGT2A3):c.1343A>G (p.His448Arg)	LOC126807070, UGT2A3 (H448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250981	NM_024743.4(UGT2A3):c.1231G>A (p.Val411Ile)	LOC126807070, UGT2A3 (V411I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473952	NM_024743.4(UGT2A3):c.1226C>A (p.Ala409Glu)	LOC126807070, UGT2A3 (A409E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624194	NM_024743.4(UGT2A3):c.1216G>A (p.Ala406Thr)	LOC126807070, UGT2A3 (A406T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330854	NM_024743.4(UGT2A3):c.1193T>A (p.Leu398His)	LOC126807070, UGT2A3 (L398H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341602	NM_024743.4(UGT2A3):c.1181T>C (p.Phe394Ser)	UGT2A3 (F394S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489482	NM_024743.4(UGT2A3):c.1074T>A (p.Asn358Lys)	UGT2A3 (N358K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186151	NM_024743.4(UGT2A3):c.1049G>A (p.Arg350Gln)	UGT2A3 (R350Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3186150	NM_024743.4(UGT2A3):c.1048C>T (p.Arg350Trp)	UGT2A3 (R350W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330853	NM_024743.4(UGT2A3):c.1045A>T (p.Thr349Ser)	UGT2A3 (T349S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220951	NM_024743.4(UGT2A3):c.989C>G (p.Pro330Arg)	UGT2A3 (P330R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186161	NM_024743.4(UGT2A3):c.944C>T (p.Thr315Ile)	UGT2A3 (T315I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186160	NM_024743.4(UGT2A3):c.935A>C (p.Gln312Pro)	UGT2A3 (Q312P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599297	NM_024743.4(UGT2A3):c.935A>G (p.Gln312Arg)	UGT2A3 (Q312R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281079	NM_024743.4(UGT2A3):c.877T>G (p.Phe293Val)	UGT2A3 (F293V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280771	NM_024743.4(UGT2A3):c.854C>T (p.Ala285Val)	UGT2A3 (A285V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476584	NM_024743.4(UGT2A3):c.847G>T (p.Ala283Ser)	UGT2A3 (A283S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472569	NM_024743.4(UGT2A3):c.799C>G (p.Pro267Ala)	UGT2A3 (P267A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312409	NM_024743.4(UGT2A3):c.698T>C (p.Phe233Ser)	UGT2A3 (F233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186159	NM_024743.4(UGT2A3):c.617T>A (p.Leu206Gln)	UGT2A3 (L206Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330855	NM_024743.4(UGT2A3):c.596T>A (p.Leu199Gln)	UGT2A3 (L199Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592837	NM_024743.4(UGT2A3):c.578C>T (p.Pro193Leu)	UGT2A3 (P193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208413	NM_024743.4(UGT2A3):c.571T>C (p.Tyr191His)	UGT2A3 (Y191H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341486	NM_024743.4(UGT2A3):c.532A>G (p.Met178Val)	UGT2A3 (M178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278122	NM_024743.4(UGT2A3):c.518C>G (p.Ser173Cys)	UGT2A3 (S173C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228089	NM_024743.4(UGT2A3):c.506C>T (p.Thr169Ile)	UGT2A3 (T169I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528224	NM_024743.4(UGT2A3):c.422C>G (p.Thr141Ser)	UGT2A3 (T141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568651	NM_024743.4(UGT2A3):c.398C>T (p.Thr133Met)	UGT2A3 (T133M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619557	NM_024743.4(UGT2A3):c.389A>G (p.Tyr130Cys)	UGT2A3 (Y130C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186156	NM_024743.4(UGT2A3):c.386T>A (p.Ile129Asn)	UGT2A3 (I129N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186155	NM_024743.4(UGT2A3):c.320T>C (p.Val107Ala)	UGT2A3 (V107A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2332170	NM_024743.4(UGT2A3):c.230T>G (p.Val77Gly)	UGT2A3 (V77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328394	NM_024743.4(UGT2A3):c.229G>T (p.Val77Phe)	UGT2A3 (V77F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264796	NM_024743.4(UGT2A3):c.120G>T (p.Lys40Asn)	UGT2A3 (K40N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186158	NM_024743.4(UGT2A3):c.52G>A (p.Val18Ile)	UGT2A3 (V18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455108	NM_024743.4(UGT2A3):c.52G>T (p.Val18Phe)	UGT2A3 (V18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252900	NM_024743.4(UGT2A3):c.11A>G (p.Asp4Gly)	UGT2A3 (D4G)	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 1808523	GRCh37/hg19 4q13.2-13.3(chr4:69661413-70724847)x3	UGT2A1, UGT2A2 +8 more	Copy number gain	not provided	GUncertain significance
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 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 814562	GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3	CENPC, GNRHR +12 more	Copy number gain	not provided	GUncertain significance
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 562926	GRCh37/hg19 4q13.2-13.3(chr4:69717201-70563328)x1	UGT2A1, UGT2B4 +5 more	Copy number loss	not provided	GLikely benign
Select item 562925	GRCh37/hg19 4q13.2(chr4:69661412-70117965)x3	UGT2A3, UGT2B10 +2 more	Copy number gain	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 441639	GRCh37/hg19 4q13.2(chr4:69256219-69908707)x3	TMPRSS11E, UGT2A3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 76