ClinVar for Gene (Select 2526) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097499	NM_002033.4(FUT4):c.945C>G (p.Asn315Lys)	FUT4 (N315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097498	NM_002033.4(FUT4):c.944A>C (p.Asn315Thr)	FUT4 (N315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097497	NM_002033.4(FUT4):c.79G>A (p.Ala27Thr)	FUT4, LOC130006601 (A27T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097496	NM_002033.4(FUT4):c.275G>T (p.Arg92Leu)	FUT4, LOC130006601 (R92L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097495	NM_002033.4(FUT4):c.260G>C (p.Arg87Pro)	FUT4, LOC130006601 (R87P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097494	NM_002033.4(FUT4):c.1576A>C (p.Ser526Arg)	FUT4, PIWIL4-AS1 (S526R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3097493	NM_002033.4(FUT4):c.1564C>T (p.Arg522Trp)	FUT4, PIWIL4-AS1 (R522W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063184	GRCh37/hg19 11q21(chr11:94130773-94280193)x1	ANKRD49, FUT4 +2 more	Copy number loss	not specified	GPathogenic
Select item 2685418	GRCh37/hg19 11q21(chr11:94130774-94676552)x1	AMOTL1, ANKRD49 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2611098	NM_002033.4(FUT4):c.824C>T (p.Ala275Val)	FUT4 (A275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582900	GRCh37/hg19 11q21(chr11:94126651-94331081)x1	ANKRD49, FUT4 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 2570331	NM_002033.4(FUT4):c.100C>T (p.Arg34Trp)	FUT4, LOC130006601 (R34W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556600	NM_002033.4(FUT4):c.1294C>T (p.Leu432Phe)	FUT4, PIWIL4-AS1 (L432F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2555672	NM_002033.4(FUT4):c.55G>C (p.Glu19Gln)	FUT4, LOC130006601 (E19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553767	NM_002033.4(FUT4):c.265A>T (p.Ser89Cys)	FUT4, LOC130006601 (S89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552866	NM_002033.4(FUT4):c.40G>T (p.Ala14Ser)	FUT4, LOC130006601 (A14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541070	NM_002033.4(FUT4):c.440G>A (p.Arg147Gln)	FUT4, LOC130006601 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536629	NM_002033.4(FUT4):c.41C>G (p.Ala14Gly)	FUT4, LOC130006601 (A14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529743	NM_002033.4(FUT4):c.515G>T (p.Trp172Leu)	FUT4, LOC130006601 (W172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488035	NM_002033.4(FUT4):c.283C>G (p.Arg95Gly)	FUT4, LOC130006601 (R95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463950	NM_002033.4(FUT4):c.362T>G (p.Leu121Arg)	FUT4, LOC130006601 (L121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463949	NM_002033.4(FUT4):c.361C>G (p.Leu121Val)	FUT4, LOC130006601 (L121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400802	NM_002033.4(FUT4):c.499A>T (p.Ile167Phe)	FUT4, LOC130006601 (I167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355181	NM_002033.4(FUT4):c.1186C>A (p.Pro396Thr)	FUT4 (P396T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336777	NM_002033.4(FUT4):c.560G>A (p.Arg187Gln)	FUT4 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317103	NM_002033.4(FUT4):c.1069G>A (p.Val357Met)	FUT4 (V357M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307776	NM_002033.4(FUT4):c.308A>G (p.Glu103Gly)	FUT4, LOC130006601 (E103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304985	NM_002033.4(FUT4):c.1540G>A (p.Ala514Thr)	FUT4, PIWIL4-AS1 (A514T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2297173	NM_002033.4(FUT4):c.719G>A (p.Arg240His)	FUT4 (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294276	NM_002033.4(FUT4):c.479G>A (p.Gly160Asp)	FUT4, LOC130006601 (G160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287371	NM_002033.4(FUT4):c.1360G>C (p.Gly454Arg)	FUT4, PIWIL4-AS1 (G454R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287370	NM_002033.4(FUT4):c.1282C>T (p.Arg428Cys)	FUT4, PIWIL4-AS1 (R428C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287060	NM_002033.4(FUT4):c.553C>G (p.Pro185Ala)	FUT4 (P185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274344	NM_002033.4(FUT4):c.170T>C (p.Leu57Pro)	FUT4, LOC130006601 (L57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247789	NM_002033.4(FUT4):c.224G>A (p.Arg75Gln)	FUT4, LOC130006601 (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233533	NM_002033.4(FUT4):c.427T>G (p.Trp143Gly)	FUT4, LOC130006601 (W143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227538	NM_002033.4(FUT4):c.94T>G (p.Ser32Ala)	FUT4, LOC130006601 (S32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211321	NM_002033.4(FUT4):c.44G>C (p.Gly15Ala)	FUT4, LOC130006601 (G15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211320	NM_002033.4(FUT4):c.343T>C (p.Trp115Arg)	FUT4, LOC130006601 (W115R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527664	GRCh37/hg19 11q21(chr11:94130773-94283185)	ANKRD49, FUT4 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527663	GRCh37/hg19 11q21(chr11:93975926-94529037)	AMOTL1, ANKRD49 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980970	GRCh37/hg19 11q21(chr11:93676223-94342737)x3	ANKRD49, FUT4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 776650	NM_002033.4(FUT4):c.162A>C (p.Pro54=)	FUT4, LOC130006601	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750457	NM_002033.4(FUT4):c.108C>T (p.Gly36=)	FUT4, LOC130006601	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735526	NM_002033.4(FUT4):c.399G>A (p.Pro133=)	FUT4, LOC130006601	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732279	NM_002033.4(FUT4):c.936C>T (p.Asn312=)	FUT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726439	NM_002033.4(FUT4):c.1548C>G (p.Asp516Glu)	FUT4, PIWIL4-AS1 (D516E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 722197	NM_002033.4(FUT4):c.900C>T (p.Pro300=)	FUT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717939	NM_002033.4(FUT4):c.793C>A (p.Leu265Met)	FUT4 (L265M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686079	GRCh37/hg19 11q21(chr11:94130773-94283185)x1	ANKRD49, FUT4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563862	GRCh37/hg19 11q21(chr11:93989761-94819546)x3	KDM4E, PIWIL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563856	GRCh37/hg19 11q21(chr11:93975926-94626160)x3	PIWIL4, GPR83 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563844	GRCh37/hg19 11q21(chr11:93934796-94301509)x3	MRE11, PIWIL4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563820	GRCh37/hg19 11q21(chr11:94130773-94283185)x1	GPR83, ANKRD49 +2 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 71