ClinVar for Gene (Select 574537) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330852	NM_001105677.2(UGT2A2):c.268A>G (p.Ser90Gly)	UGT2A1, UGT2A2 (S291G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330851	NM_001105677.2(UGT2A2):c.709G>A (p.Gly237Arg)	UGT2A1, UGT2A2 (G438R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186149	NM_001105677.2(UGT2A2):c.706T>G (p.Trp236Gly)	UGT2A1, UGT2A2 (W236G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186148	NM_001105677.2(UGT2A2):c.499C>T (p.Leu167Phe)	UGT2A1, UGT2A2 (L368F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186147	NM_001105677.2(UGT2A2):c.155T>G (p.Leu52Trp)	UGT2A1, UGT2A2 (L253W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186146	NM_001252275.3(UGT2A1):c.997-1026C>T	UGT2A1, UGT2A2 (S324L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +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 2654790	NM_001105677.2(UGT2A2):c.742+3061_742+3070dup	UGT2A1, UGT2A2	Duplication (intron variant)	not provided	GLikely benign
Select item 2621636	NM_001105677.2(UGT2A2):c.133A>G (p.Ile45Val)	UGT2A1, UGT2A2 (I45V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617714	NM_001105677.2(UGT2A2):c.10A>G (p.Ile4Val)	UGT2A1, UGT2A2 (I4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512349	NM_001105677.2(UGT2A2):c.637A>G (p.Met213Val)	UGT2A1, UGT2A2 (M213V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468684	NM_001105677.2(UGT2A2):c.205T>C (p.Phe69Leu)	UGT2A1, UGT2A2 (F69L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406614	NM_001105677.2(UGT2A2):c.451G>C (p.Gly151Arg)	UGT2A1, UGT2A2 (G151R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374899	NM_001252275.3(UGT2A1):c.1463C>A (p.Ser488Tyr)	UGT2A1, UGT2A2 (S444Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343860	NM_001105677.2(UGT2A2):c.824G>A (p.Arg275His)	UGT2A1, UGT2A2 (R266H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327526	NM_001105677.2(UGT2A2):c.26T>G (p.Met9Arg)	UGT2A1, UGT2A2 (M9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316791	NM_001105677.2(UGT2A2):c.140T>C (p.Ile47Thr)	UGT2A1, UGT2A2 (I47T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227882	NM_001105677.2(UGT2A2):c.353A>G (p.Lys118Arg)	UGT2A1, UGT2A2 (K118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209279	NM_001105677.2(UGT2A2):c.440G>A (p.Arg147Lys)	UGT2A1, UGT2A2 (R147K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809429	GRCh37/hg19 4q13.2-13.3(chr4:70479061-70985189)x1	CSN1S1, CSN2 +7 more	Copy number loss	not provided	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 1808451	GRCh37/hg19 4q13.2-13.3(chr4:70478978-70985189)x1	CSN1S1, CSN2 +7 more	Copy number loss	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 789578	NM_001252275.3(UGT2A1):c.1369C>T (p.Arg457Ter)	UGT2A1, UGT2A2 (R413* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 788781	NM_001252275.3(UGT2A1):c.1170A>T (p.Gly390=)	LOC129389218, UGT2A1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780463	NM_001252275.3(UGT2A1):c.1179G>A (p.Met393Ile)	LOC129389218, UGT2A1 +1 more (M358I +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738813	NM_001252275.3(UGT2A1):c.930T>G (p.Arg310=)	UGT2A1, UGT2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738812	NM_001252275.3(UGT2A1):c.1041C>T (p.Asn347=)	UGT2A1, UGT2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717876	NM_001252275.3(UGT2A1):c.1020G>T (p.Lys340Asn)	UGT2A1, UGT2A2 (K296N +5 more)	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 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 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 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

ClinVar

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Links from Gene

Items: 55