UGT3A2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	LOC129993646, LOC129993647 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 2342565	NM_174914.4(UGT3A2):c.1511G>A (p.Gly504Glu)	UGT3A2 (G470E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333789	NM_174914.4(UGT3A2):c.1460A>G (p.Asp487Gly)	UGT3A2 (D453G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609274	NM_174914.4(UGT3A2):c.1350C>A (p.Ser450Arg)	UGT3A2 (S450R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289559	NM_174914.4(UGT3A2):c.1302G>T (p.Lys434Asn)	UGT3A2 (K434N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341802	NM_174914.4(UGT3A2):c.1091G>A (p.Arg364His)	UGT3A2 (R330H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270242	NM_174914.4(UGT3A2):c.1007G>T (p.Trp336Leu)	UGT3A2 (W336L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520328	NM_174914.4(UGT3A2):c.965A>T (p.His322Leu)	UGT3A2 (H288L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360452	NM_174914.4(UGT3A2):c.919T>C (p.Cys307Arg)	UGT3A2 (C307R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464158	NM_174914.4(UGT3A2):c.874G>C (p.Asp292His)	UGT3A2 (D258H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264941	NM_174914.4(UGT3A2):c.869T>C (p.Phe290Ser)	UGT3A2 (F256S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559613	NM_174914.4(UGT3A2):c.859A>G (p.Ile287Val)	UGT3A2 (I253V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474131	NM_174914.4(UGT3A2):c.761C>A (p.Ala254Asp)	UGT3A2 (A254D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286202	NM_174914.4(UGT3A2):c.625A>G (p.Ser209Gly)	UGT3A2 (S209G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411148	NM_174914.4(UGT3A2):c.536T>G (p.Ile179Ser)	UGT3A2 (I145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352860	NM_174914.4(UGT3A2):c.279T>A (p.Phe93Leu)	UGT3A2 (F59L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343980	NM_174914.4(UGT3A2):c.272A>C (p.Lys91Thr)	UGT3A2 (K57T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282606	NM_174914.4(UGT3A2):c.258A>C (p.Gln86His)	UGT3A2 (Q52H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261790	NM_174914.4(UGT3A2):c.197A>G (p.Asp66Gly)	UGT3A2 (D32G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814680	GRCh37/hg19 5p13.2(chr5:35382352-36123330)x3	CAPSL, LMBRD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 41