FUT3[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 783813	NM_001097639.3(FUT3):c.1029A>G (p.Lys343=)	FUT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044437	NM_001097639.3(FUT3):c.975G>A (p.Thr325=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related condition	GBenign
Select item 2591712	NM_001097639.3(FUT3):c.944G>A (p.Arg315His)	FUT3 (R315H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595272	NM_001097639.3(FUT3):c.911G>A (p.Arg304Gln)	FUT3 (R304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2493849	NM_000149.4(FUT3):c.910C>T (p.Arg304Trp)	FUT3 (R304W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468343	NM_000149.4(FUT3):c.910C>G (p.Arg304Gly)	FUT3 (R304G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369706	NM_000149.4(FUT3):c.826C>T (p.Pro276Ser)	FUT3 (P276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030328	NM_001097639.3(FUT3):c.741C>T (p.Phe247=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related condition	GLikely benign
Select item 718641	NM_001097639.3(FUT3):c.732C>T (p.Tyr244=)	FUT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2350352	NM_000149.4(FUT3):c.679A>G (p.Lys227Glu)	FUT3 (K227E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403175	NM_000149.4(FUT3):c.670C>T (p.Arg224Cys)	FUT3 (R224C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237871	NM_000149.4(FUT3):c.622C>T (p.Arg208Cys)	FUT3 (R208C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773080	NM_001097639.3(FUT3):c.612A>G (p.Ser204=)	FUT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3030791	NM_001097639.3(FUT3):c.570C>T (p.Thr190=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related condition	GLikely benign
Select item 2236076	NM_000149.4(FUT3):c.518A>G (p.Glu173Gly)	FUT3 (E173G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242700	NM_001097639.3(FUT3):c.508G>A (p.Gly170Ser)	FUT3 (G170S)	Single nucleotide variant (missense variant)	FUT3-related condition	GBenign
Select item 17716	NM_000149.3(FUT3):c.[59T>G;508G>A]	FUT3 (G170S +1 more)	Single nucleotide variant (missense variant)	Le(-) PHENOTYPE	Gassociation
Select item 2383363	NM_000149.4(FUT3):c.431A>G (p.Gln144Arg)	FUT3 (Q144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398931	NM_000149.4(FUT3):c.421C>A (p.Pro141Thr)	FUT3 (P141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541529	NM_000149.4(FUT3):c.403T>C (p.Phe135Leu)	FUT3 (F135L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241933	NM_000149.4(FUT3):c.385G>C (p.Gly129Arg)	FUT3 (G129R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292754	NM_000149.4(FUT3):c.322G>A (p.Val108Met)	FUT3 (V108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263837	NM_000149.4(FUT3):c.268G>A (p.Asp90Asn)	FUT3 (D90N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529345	NM_000149.4(FUT3):c.260G>A (p.Gly87Asp)	FUT3 (G87D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292535	NM_000149.4(FUT3):c.238C>T (p.Arg80Cys)	FUT3 (R80C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480815	NM_000149.4(FUT3):c.233T>C (p.Leu78Pro)	FUT3 (L78P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493772	NM_000149.4(FUT3):c.166A>C (p.Thr56Pro)	FUT3 (T56P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232865	NM_000149.4(FUT3):c.145A>T (p.Ser49Cys)	FUT3 (S49C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206022	NM_000149.4(FUT3):c.125C>T (p.Thr42Ile)	FUT3 (T42I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466082	NM_000149.4(FUT3):c.118G>A (p.Asp40Asn)	FUT3 (D40N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242770	NM_001097639.3(FUT3):c.59T>G (p.Leu20Arg)	FUT3 (L20R)	Single nucleotide variant (missense variant)	FUT3-related condition	GBenign
Select item 713555	NM_001097639.3(FUT3):c.55G>A (p.Ala19Thr)	FUT3 (A19T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2275884	NM_000149.4(FUT3):c.32G>T (p.Trp11Leu)	FUT3 (W11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459651	NM_000149.4(FUT3):c.11T>A (p.Leu4Gln)	FUT3 (L4Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	FUT6, HSD11B1L +10 more	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394138	GRCh37/hg19 19p13.3(chr19:5835025-5843070)x3	FUT3, FUT6	Copy number gain	See cases	GUncertain significance

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Items: 44