Related gene-specific medical variations for Gene (Select 2526) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570331	NM_002033.4(FUT4):c.100C>T (p.Arg34Trp)	FUT4, LOC130006601 (R34W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2555672	NM_002033.4(FUT4):c.55G>C (p.Glu19Gln)	FUT4, LOC130006601 (E19Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553767	NM_002033.4(FUT4):c.265A>T (p.Ser89Cys)	FUT4, LOC130006601 (S89C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552866	NM_002033.4(FUT4):c.40G>T (p.Ala14Ser)	FUT4, LOC130006601 (A14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541070	NM_002033.4(FUT4):c.440G>A (p.Arg147Gln)	FUT4, LOC130006601 (R147Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536629	NM_002033.4(FUT4):c.41C>G (p.Ala14Gly)	FUT4, LOC130006601 (A14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529743	NM_002033.4(FUT4):c.515G>T (p.Trp172Leu)	FUT4, LOC130006601 (W172L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488035	NM_002033.4(FUT4):c.283C>G (p.Arg95Gly)	FUT4, LOC130006601 (R95G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463950	NM_002033.4(FUT4):c.362T>G (p.Leu121Arg)	FUT4, LOC130006601 (L121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463949	NM_002033.4(FUT4):c.361C>G (p.Leu121Val)	FUT4, LOC130006601 (L121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400802	NM_002033.4(FUT4):c.499A>T (p.Ile167Phe)	FUT4, LOC130006601 (I167F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307776	NM_002033.4(FUT4):c.308A>G (p.Glu103Gly)	FUT4, LOC130006601 (E103G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304985	NM_002033.4(FUT4):c.1540G>A (p.Ala514Thr)	PIWIL4-AS1, FUT4 (A514T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294276	NM_002033.4(FUT4):c.479G>A (p.Gly160Asp)	FUT4, LOC130006601 (G160D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287371	NM_002033.4(FUT4):c.1360G>C (p.Gly454Arg)	PIWIL4-AS1, FUT4 (G454R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2274344	NM_002033.4(FUT4):c.170T>C (p.Leu57Pro)	FUT4, LOC130006601 (L57P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247789	NM_002033.4(FUT4):c.224G>A (p.Arg75Gln)	FUT4, LOC130006601 (R75Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233533	NM_002033.4(FUT4):c.427T>G (p.Trp143Gly)	FUT4, LOC130006601 (W143G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227538	NM_002033.4(FUT4):c.94T>G (p.Ser32Ala)	FUT4, LOC130006601 (S32A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211321	NM_002033.4(FUT4):c.44G>C (p.Gly15Ala)	FUT4, LOC130006601 (G15A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211320	NM_002033.4(FUT4):c.343T>C (p.Trp115Arg)	FUT4, LOC130006601 (W115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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

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Items: 27