FUT11[gene] - ClinVar

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

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
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 756758	NM_173540.3(FUT11):c.288C>A (p.Ile96=)	FUT11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 780868	NM_173540.3(FUT11):c.560C>G (p.Thr187Ser)	FUT11 (T187S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 734835	NM_173540.3(FUT11):c.1199A>G (p.Asp400Gly)	FUT11 (D400G)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 688655	GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1	AGAP5, C10orf55 +12 more	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442888	GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3	ADK, AGAP5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic

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: 52