UGT3A1[gene] - ClinVar

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Items: 47

	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 2216851	NM_152404.4(UGT3A1):c.1549G>C (p.Ala517Pro)	UGT3A1 (A517P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467432	NM_152404.4(UGT3A1):c.1501T>G (p.Trp501Gly)	UGT3A1 (W501G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568483	NM_152404.4(UGT3A1):c.1403C>T (p.Ala468Val)	UGT3A1 (A468V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280019	NM_152404.4(UGT3A1):c.1384A>G (p.Ile462Val)	UGT3A1 (I462V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570237	NM_152404.4(UGT3A1):c.1377C>G (p.Ile459Met)	UGT3A1 (I459M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550976	NM_152404.4(UGT3A1):c.1346T>C (p.Leu449Pro)	UGT3A1 (L449P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395388	NM_152404.4(UGT3A1):c.1272G>A (p.Met424Ile)	UGT3A1 (M424I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329714	NM_152404.4(UGT3A1):c.1194G>A (p.Met398Ile)	UGT3A1 (M398I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484509	NM_152404.4(UGT3A1):c.1192A>G (p.Met398Val)	UGT3A1 (M398V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406610	NM_152404.4(UGT3A1):c.1144G>A (p.Gly382Ser)	UGT3A1 (G382S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597736	NM_152404.4(UGT3A1):c.1034A>G (p.Asn345Ser)	UGT3A1 (N345S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270941	NM_152404.4(UGT3A1):c.1018G>T (p.Val340Phe)	UGT3A1 (V340F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340945	NM_152404.4(UGT3A1):c.942G>C (p.Lys314Asn)	UGT3A1 (K314N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559564	NM_152404.4(UGT3A1):c.757T>C (p.Phe253Leu)	UGT3A1 (F199L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316659	NM_152404.4(UGT3A1):c.686T>A (p.Phe229Tyr)	UGT3A1 (F175Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545858	NM_152404.4(UGT3A1):c.563C>G (p.Pro188Arg)	UGT3A1 (P188R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594829	NM_152404.4(UGT3A1):c.511G>A (p.Gly171Ser)	UGT3A1 (G171S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291503	NM_152404.4(UGT3A1):c.472C>A (p.Leu158Ile)	UGT3A1 (L158I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314037	NM_152404.4(UGT3A1):c.470A>G (p.Lys157Arg)	UGT3A1 (K103R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486893	NM_152404.4(UGT3A1):c.452C>G (p.Ser151Cys)	UGT3A1 (S151C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510384	NM_152404.4(UGT3A1):c.308G>T (p.Gly103Val)	UGT3A1 (G103V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525235	NM_152404.4(UGT3A1):c.289A>G (p.Ile97Val)	UGT3A1 (I97V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2353733	NM_152404.4(UGT3A1):c.223C>G (p.Gln75Glu)	UGT3A1 (Q75E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335790	NM_152404.4(UGT3A1):c.220T>C (p.Tyr74His)	UGT3A1 (Y20H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532955	NM_152404.4(UGT3A1):c.181A>C (p.Lys61Gln)	UGT3A1 (K7Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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: 47