"Ambry Genetics"[submitter] AND "FUT11"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2595844	NM_173540.3(FUT11):c.14C>T (p.Pro5Leu)	FUT11 (P5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569727	NM_173540.3(FUT11):c.20G>A (p.Arg7Lys)	FUT11 (R7K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564868	NM_173540.3(FUT11):c.61G>A (p.Ala21Thr)	FUT11 (A21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377003	NM_173540.3(FUT11):c.121C>A (p.Pro41Thr)	FUT11 (P41T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218915	NM_173540.3(FUT11):c.139T>C (p.Phe47Leu)	FUT11 (F47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511451	NM_173540.3(FUT11):c.179G>A (p.Arg60His)	FUT11, LOC130004088 (R60H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224925	NM_173540.3(FUT11):c.213G>C (p.Glu71Asp)	FUT11, LOC130004088 (E71D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313885	NM_173540.3(FUT11):c.225G>C (p.Leu75Phe)	FUT11 (L75F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525040	NM_173540.3(FUT11):c.274G>A (p.Asp92Asn)	FUT11 (D92N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540751	NM_173540.3(FUT11):c.320G>A (p.Arg107Gln)	FUT11 (R107Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471297	NM_173540.3(FUT11):c.331G>A (p.Ala111Thr)	FUT11 (A111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591549	NM_173540.3(FUT11):c.370G>A (p.Gly124Ser)	FUT11 (G124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518627	NM_173540.3(FUT11):c.377A>C (p.Asp126Ala)	FUT11 (D126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395785	NM_173540.3(FUT11):c.395C>T (p.Ala132Val)	FUT11 (A132V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223502	NM_173540.3(FUT11):c.566A>G (p.Tyr189Cys)	FUT11 (Y189C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403575	NM_173540.3(FUT11):c.593T>C (p.Met198Thr)	FUT11 (M198T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550372	NM_173540.3(FUT11):c.610C>G (p.Arg204Gly)	FUT11 (R204G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562722	NM_173540.3(FUT11):c.655G>T (p.Asp219Tyr)	FUT11 (D219Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366334	NM_173540.3(FUT11):c.739C>T (p.Arg247Trp)	FUT11 (R247W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232978	NM_173540.3(FUT11):c.971T>C (p.Ile324Thr)	FUT11 (I324T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535540	NM_173540.3(FUT11):c.1034A>G (p.Glu345Gly)	FUT11 (E345G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318105	NM_173540.3(FUT11):c.1100G>C (p.Ser367Thr)	FUT11 (S367T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475898	NM_173540.3(FUT11):c.1112G>C (p.Arg371Pro)	FUT11 (R371P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271687	NM_173540.3(FUT11):c.1150C>G (p.Leu384Val)	FUT11 (L384V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350722	NM_173540.3(FUT11):c.1154A>G (p.Asn385Ser)	FUT11 (N385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291385	NM_173540.3(FUT11):c.1177G>T (p.Asp393Tyr)	FUT11 (D393Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348896	NM_173540.3(FUT11):c.1193G>A (p.Arg398Gln)	FUT11 (R398Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531401	NM_173540.3(FUT11):c.1216G>A (p.Ala406Thr)	FUT11 (A406T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612743	NM_173540.3(FUT11):c.1219G>C (p.Ala407Pro)	FUT11 (A407P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241004	NM_173540.3(FUT11):c.1222T>G (p.Ser408Ala)	FUT11 (S408A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615727	NM_173540.3(FUT11):c.1240G>A (p.Val414Ile)	FUT11 (V414I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2241005	NM_173540.3(FUT11):c.1387G>A (p.Ala463Thr)	FUT11 (A463T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542772	NM_173540.3(FUT11):c.1474C>A (p.Leu492Ile)	FUT11 (L492I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 33