UGT2B4[gene] - ClinVar

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Items: 73

	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, LOC116158492 +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	FDCSP, FGF5 +330 more	Deletion	See cases	GPathogenic
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	LOC129992716, LOC129992717 +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 2400188	NM_021139.3(UGT2B4):c.1572G>C (p.Lys524Asn)	UGT2B4 (K524N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616092	NM_021139.3(UGT2B4):c.1510G>A (p.Val504Met)	UGT2B4 (V368M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270940	NM_021139.3(UGT2B4):c.1496C>T (p.Ala499Val)	UGT2B4 (A363V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592535	NM_021139.3(UGT2B4):c.1429C>T (p.Arg477Trp)	UGT2B4 (R341W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616091	NM_021139.3(UGT2B4):c.1386C>A (p.Phe462Leu)	UGT2B4 (F462L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616090	NM_021139.3(UGT2B4):c.1385T>A (p.Phe462Tyr)	UGT2B4 (F326Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243612	NM_021139.3(UGT2B4):c.1351G>C (p.Asp451His)	UGT2B4 (D315H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548976	NM_021139.3(UGT2B4):c.1318G>A (p.Glu440Lys)	UGT2B4 (E304K +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486378	NM_021139.3(UGT2B4):c.1286T>C (p.Leu429Pro)	UGT2B4 (L293P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713201	NM_021139.3(UGT2B4):c.1212A>T (p.Ala404=)	UGT2B4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2267623	NM_021139.3(UGT2B4):c.1138A>G (p.Ile380Val)	UGT2B4 (I380V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595366	NM_021139.3(UGT2B4):c.1061A>G (p.Tyr354Cys)	UGT2B4 (Y218C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309950	NM_021139.3(UGT2B4):c.990G>T (p.Lys330Asn)	UGT2B4 (K194N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595527	NM_021139.3(UGT2B4):c.986C>G (p.Ala329Gly)	UGT2B4 (A193G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612080	NM_021139.3(UGT2B4):c.876G>A (p.Met292Ile)	UGT2B4 (M156I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717904	NM_021139.3(UGT2B4):c.871-6del	UGT2B4	Deletion (intron variant)	not provided	GBenign
Select item 2393980	NM_021139.3(UGT2B4):c.844T>C (p.Cys282Arg)	UGT2B4 (C282R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271727	NM_021139.3(UGT2B4):c.842A>T (p.His281Leu)	UGT2B4 (H145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249371	NM_021139.3(UGT2B4):c.765A>G (p.Ile255Met)	UGT2B4 (I119M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408889	NM_021139.3(UGT2B4):c.737T>C (p.Leu246Ser)	UGT2B4 (L110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720184	NM_021139.3(UGT2B4):c.668G>T (p.Trp223Leu)	UGT2B4 (W223L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2353710	NM_021139.3(UGT2B4):c.643A>T (p.Ile215Phe)	UGT2B4 (I79F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478660	NM_021139.3(UGT2B4):c.629G>C (p.Arg210Thr)	UGT2B4 (R74T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286701	NM_021139.3(UGT2B4):c.595T>G (p.Ser199Ala)	UGT2B4 (S199A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553123	NM_021139.3(UGT2B4):c.587T>C (p.Val196Ala)	UGT2B4 (V60A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491168	NM_021139.3(UGT2B4):c.578A>G (p.Tyr193Cys)	UGT2B4 (Y57C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535304	NM_021139.3(UGT2B4):c.557G>A (p.Gly186Glu)	UGT2B4 (G50E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468378	NM_021139.3(UGT2B4):c.535G>A (p.Ala179Thr)	UGT2B4 (A179T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472729	NM_021139.3(UGT2B4):c.520T>C (p.Phe174Leu)	UGT2B4 (F38L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245006	NM_021139.3(UGT2B4):c.484G>A (p.Glu162Lys)	UGT2B4 (E26K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746307	NM_021139.3(UGT2B4):c.438T>C (p.Asp146=)	UGT2B4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 770904	NM_021139.3(UGT2B4):c.398A>G (p.Asn133Ser)	UGT2B4 (N133S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2561150	NM_021139.3(UGT2B4):c.329C>T (p.Ser110Leu)	UGT2B4 (S110L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465134	NM_021139.3(UGT2B4):c.311C>G (p.Thr104Arg)	UGT2B4 (T104R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716107	NM_021139.3(UGT2B4):c.238T>C (p.Ser80Pro)	UGT2B4 (S80P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2609374	NM_021139.3(UGT2B4):c.233C>A (p.Pro78His)	UGT2B4 (P78H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510734	NM_021139.3(UGT2B4):c.232C>A (p.Pro78Thr)	UGT2B4 (P78T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394119	NM_021139.3(UGT2B4):c.155A>G (p.Glu52Gly)	UGT2B4 (E52G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480940	NM_021139.3(UGT2B4):c.139G>C (p.Val47Leu)	UGT2B4 (V47L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272446	NM_021139.3(UGT2B4):c.121A>T (p.Thr41Ser)	UGT2B4 (T41S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713305	NM_021139.3(UGT2B4):c.120G>C (p.Lys40Asn)	UGT2B4 (K40N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2297303	NM_021139.3(UGT2B4):c.46T>C (p.Cys16Arg)	UGT2B4 (C16R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339946	NM_021139.3(UGT2B4):c.5C>T (p.Ser2Phe)	UGT2B4 (S2F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +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 980091	GRCh37/hg19 4q13.2(chr4:70280315-70439686)x1	UGT2B4	Copy number loss	not provided	GUncertain significance
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 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	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 73