FUT3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +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 3097483	NM_001097639.3(FUT3):c.1055C>T (p.Thr352Met)	FUT3 (T352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783813	NM_001097639.3(FUT3):c.1029A>G (p.Lys343=)	FUT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280191	NM_001097639.3(FUT3):c.989C>T (p.Ser330Phe)	FUT3 (S330F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3044437	NM_001097639.3(FUT3):c.975G>A (p.Thr325=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related disorder	GBenign
Select item 2591712	NM_001097639.3(FUT3):c.944G>A (p.Arg315His)	FUT3 (R315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595272	NM_001097639.3(FUT3):c.911G>A (p.Arg304Gln)	FUT3 (R304Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493849	NM_001097639.3(FUT3):c.910C>T (p.Arg304Trp)	FUT3 (R304W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468343	NM_001097639.3(FUT3):c.910C>G (p.Arg304Gly)	FUT3 (R304G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097492	NM_001097639.3(FUT3):c.893G>A (p.Ser298Asn)	FUT3 (S298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369706	NM_001097639.3(FUT3):c.826C>T (p.Pro276Ser)	FUT3 (P276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354208	NM_001097639.3(FUT3):c.813C>T (p.Pro271=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related disorder	GLikely benign
Select item 3097491	NM_001097639.3(FUT3):c.772G>A (p.Glu258Lys)	FUT3 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097490	NM_001097639.3(FUT3):c.758C>T (p.Pro253Leu)	FUT3 (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030328	NM_001097639.3(FUT3):c.741C>T (p.Phe247=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related disorder	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 3097489	NM_001097639.3(FUT3):c.710C>T (p.Thr237Met)	FUT3 (T237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350352	NM_001097639.3(FUT3):c.679A>G (p.Lys227Glu)	FUT3 (K227E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403175	NM_001097639.3(FUT3):c.670C>T (p.Arg224Cys)	FUT3 (R224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237871	NM_001097639.3(FUT3):c.622C>T (p.Arg208Cys)	FUT3 (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097487	NM_001097639.3(FUT3):c.616A>T (p.Arg206Trp)	FUT3 (R206W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773080	NM_001097639.3(FUT3):c.612A>G (p.Ser204=)	FUT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280189	NM_001097639.3(FUT3):c.596A>G (p.Asn199Ser)	FUT3 (N199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030791	NM_001097639.3(FUT3):c.570C>T (p.Thr190=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related disorder	GLikely benign
Select item 3280192	NM_001097639.3(FUT3):c.530G>A (p.Gly177Asp)	FUT3 (G177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236076	NM_001097639.3(FUT3):c.518A>G (p.Glu173Gly)	FUT3 (E173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242700	NM_001097639.3(FUT3):c.508G>A (p.Gly170Ser)	FUT3 (G170S)	Single nucleotide variant (missense variant)	FUT3-related disorder	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_001097639.3(FUT3):c.431A>G (p.Gln144Arg)	FUT3 (Q144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398931	NM_001097639.3(FUT3):c.421C>A (p.Pro141Thr)	FUT3 (P141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541529	NM_001097639.3(FUT3):c.403T>C (p.Phe135Leu)	FUT3 (F135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241933	NM_001097639.3(FUT3):c.385G>C (p.Gly129Arg)	FUT3 (G129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355430	NM_001097639.3(FUT3):c.384G>A (p.Gln128=)	FUT3	Single nucleotide variant (synonymous variant)	FUT3-related disorder	GLikely benign
Select item 2292754	NM_001097639.3(FUT3):c.322G>A (p.Val108Met)	FUT3 (V108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097486	NM_001097639.3(FUT3):c.310G>A (p.Asp104Asn)	FUT3 (D104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097485	NM_001097639.3(FUT3):c.272G>A (p.Cys91Tyr)	FUT3 (C91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263837	NM_001097639.3(FUT3):c.268G>A (p.Asp90Asn)	FUT3 (D90N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529345	NM_001097639.3(FUT3):c.260G>A (p.Gly87Asp)	FUT3 (G87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097484	NM_001097639.3(FUT3):c.251T>C (p.Met84Thr)	FUT3 (M84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292535	NM_001097639.3(FUT3):c.238C>T (p.Arg80Cys)	FUT3 (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480815	NM_001097639.3(FUT3):c.233T>C (p.Leu78Pro)	FUT3 (L78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493772	NM_001097639.3(FUT3):c.166A>C (p.Thr56Pro)	FUT3 (T56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232865	NM_001097639.3(FUT3):c.145A>T (p.Ser49Cys)	FUT3 (S49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206022	NM_001097639.3(FUT3):c.125C>T (p.Thr42Ile)	FUT3 (T42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466082	NM_001097639.3(FUT3):c.118G>A (p.Asp40Asn)	FUT3 (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242770	NM_001097639.3(FUT3):c.59T>G (p.Leu20Arg)	FUT3 (L20R)	Single nucleotide variant (missense variant)	FUT3-related disorder	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 3280187	NM_001097639.3(FUT3):c.53C>A (p.Ala18Asp)	FUT3 (A18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275884	NM_001097639.3(FUT3):c.32G>T (p.Trp11Leu)	FUT3 (W11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280190	NM_001097639.3(FUT3):c.29A>G (p.Gln10Arg)	FUT3 (Q10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459651	NM_001097639.3(FUT3):c.11T>A (p.Leu4Gln)	FUT3 (L4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	CATSPERD, DUS3L +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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61