UGT2B15[gene] - ClinVar

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Items: 61

	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 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
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 145379	GRCh38/hg38 4q13.2(chr4:68410654-68727128)x3	TMPRSS11E, UGT2B15 +1 more	Copy number gain	See cases	GBenign
Select item 155511	GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3	LOC105377267, LOC111589210 +11 more	Copy number gain	See cases	GUncertain significance
Select item 149782	GRCh38/hg38 4q13.2(chr4:68508935-68647669)x3	UGT2B15, UGT2B17	Copy number gain	See cases	GLikely benign
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 221701	GRCh38/hg38 4q13.2(chr4:68626601-68646936)x1	UGT2B15	Copy number loss	Premature ovarian failure	GBenign
Select item 791440	NM_001076.4(UGT2B15):c.1580A>G (p.Lys527Arg)	UGT2B15 (K527R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2256039	NM_001076.4(UGT2B15):c.1538G>A (p.Cys513Tyr)	UGT2B15 (C513Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619425	NM_001076.4(UGT2B15):c.1507G>A (p.Ala503Thr)	UGT2B15 (A503T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596179	NM_001076.4(UGT2B15):c.1504G>A (p.Val502Met)	UGT2B15 (V502M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597440	NM_001076.4(UGT2B15):c.1486G>A (p.Ala496Thr)	UGT2B15 (A496T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383719	NM_001076.4(UGT2B15):c.1408C>A (p.Arg470Ser)	UGT2B15 (R470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782091	NM_001076.4(UGT2B15):c.1408C>T (p.Arg470Cys)	UGT2B15 (R470C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2324439	NM_001076.4(UGT2B15):c.1360C>T (p.Pro454Ser)	UGT2B15 (P454S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520749	NM_001076.4(UGT2B15):c.1331T>C (p.Met444Thr)	UGT2B15 (M444T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401326	NM_001076.4(UGT2B15):c.1279C>T (p.Leu427Phe)	UGT2B15 (L427F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232650	NM_001076.4(UGT2B15):c.1253T>A (p.Ile418Asn)	UGT2B15 (I418N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333348	NM_001076.4(UGT2B15):c.1245T>A (p.Ser415Arg)	UGT2B15 (S415R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2589042	NM_001076.4(UGT2B15):c.1219A>G (p.Met407Val)	UGT2B15 (M407V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220088	NM_001076.4(UGT2B15):c.1187T>C (p.Leu396Ser)	UGT2B15 (L396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305236	NM_001076.4(UGT2B15):c.1153A>G (p.Ile385Val)	UGT2B15 (I385V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252820	NM_001076.4(UGT2B15):c.1151C>T (p.Ala384Val)	UGT2B15 (A384V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323454	NM_001076.4(UGT2B15):c.1087C>T (p.Leu363Phe)	UGT2B15 (L363F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603846	NM_001076.4(UGT2B15):c.1060C>G (p.Leu354Val)	UGT2B15 (L354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304026	NM_001076.4(UGT2B15):c.1039A>T (p.Thr347Ser)	UGT2B15 (T347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296557	NM_001076.4(UGT2B15):c.983C>G (p.Ala328Gly)	UGT2B15 (A328G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324624	NM_001076.4(UGT2B15):c.974T>C (p.Ile325Thr)	UGT2B15 (I325T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493798	NM_001076.4(UGT2B15):c.896G>T (p.Ser299Ile)	UGT2B15 (S299I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775982	NM_001076.4(UGT2B15):c.873+9A>G	UGT2B15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2377377	NM_001076.4(UGT2B15):c.740T>C (p.Leu247Ser)	UGT2B15 (L247S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590541	NM_001076.4(UGT2B15):c.583G>A (p.Val195Ile)	UGT2B15 (V195I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544434	NM_001076.4(UGT2B15):c.451G>A (p.Ala151Thr)	UGT2B15 (A151T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409442	NM_001076.4(UGT2B15):c.374A>G (p.Asn125Ser)	UGT2B15 (N125S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589659	NM_001076.4(UGT2B15):c.316T>C (p.Phe106Leu)	UGT2B15 (F106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614188	NM_001076.4(UGT2B15):c.283G>T (p.Asp95Tyr)	UGT2B15 (D95Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720922	NM_001076.4(UGT2B15):c.174T>G (p.Ser58=)	UGT2B15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2233270	NM_001076.4(UGT2B15):c.157G>A (p.Val53Met)	UGT2B15 (V53M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545977	NM_001076.4(UGT2B15):c.146G>A (p.Arg49Lys)	UGT2B15 (R49K)	Single nucleotide variant (missense variant)	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 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 813844	GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3	CENPC, GNRHR +10 more	Copy number gain	Delayed speech and language development +1 more	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 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 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	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 61