FUT1[gene] and "single gene"[properties] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2398839	NM_001384359.1(FUT1):c.1022C>T (p.Pro341Leu)	FUT1 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12139	NM_001384359.1(FUT1):c.948C>G (p.Tyr316Ter)	FUT1 (Y316*)	Single nucleotide variant (nonsense)	Bombay phenotype	GAffects
Select item 3097463	NM_001384359.1(FUT1):c.939G>T (p.Trp313Cys)	FUT1 (W313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030253	NM_001384359.1(FUT1):c.881_882del (p.Phe294fs)	FUT1 (F294fs)	Deletion (frameshift variant)	FUT1-related disorder	GPathogenic
Select item 12141	NM_001384359.1(FUT1):c.826C>T (p.Gln276Ter)	FUT1 (Q276*)	Single nucleotide variant (nonsense)	Para-Bombay phenotype	GPathogenic
Select item 3055812	NM_001384359.1(FUT1):c.822C>A (p.Thr274=)	FUT1	Single nucleotide variant (synonymous variant)	FUT1-related disorder	GBenign
Select item 12142	NM_001384359.1(FUT1):c.725T>G (p.Leu242Arg)	FUT1 (L242R)	Single nucleotide variant (missense variant)	BOMBAY PHENOTYPE, DIGENIC +1 more	GPathogenic; Affects
Select item 2326167	NM_001384359.1(FUT1):c.628C>A (p.Arg210Ser)	FUT1 (R210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097462	NM_001384359.1(FUT1):c.626A>C (p.Asp209Ala)	FUT1 (D209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097461	NM_001384359.1(FUT1):c.616C>T (p.Arg206Cys)	FUT1 (R206C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204783	NM_001384359.1(FUT1):c.608G>A (p.Arg203His)	FUT1 (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353122	NM_001384359.1(FUT1):c.607C>T (p.Arg203Cys)	FUT1 (R203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530950	NM_001384359.1(FUT1):c.545G>A (p.Arg182His)	FUT1 (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12140	NM_001384359.1(FUT1):c.491T>A (p.Leu164His)	FUT1 (L164H)	Single nucleotide variant (missense variant)	Para-Bombay phenotype	GPathogenic
Select item 2607528	NM_001384359.1(FUT1):c.425G>A (p.Arg142Gln)	FUT1 (R142Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314684	NM_001384359.1(FUT1):c.418C>T (p.Pro140Ser)	FUT1 (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603545	NM_001384359.1(FUT1):c.411C>A (p.Ser137Arg)	FUT1 (S137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494352	NM_001384359.1(FUT1):c.402A>C (p.Glu134Asp)	FUT1 (E134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622457	NM_001384359.1(FUT1):c.372C>G (p.Phe124Leu)	FUT1 (F124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619294	NM_001384359.1(FUT1):c.370T>C (p.Phe124Leu)	FUT1 (F124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030069	NM_001384359.1(FUT1):c.366G>A (p.Pro122=)	FUT1	Single nucleotide variant (synonymous variant)	FUT1-related disorder	GLikely benign
Select item 221680	NM_001384359.1(FUT1):c.349C>T (p.His117Tyr)	FUT1 (H117Y)	Single nucleotide variant (missense variant)	Para-Bombay phenotype	GPathogenic
Select item 2486839	NM_001384359.1(FUT1):c.334A>G (p.Ile112Val)	FUT1 (I112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681287	NM_001384359.1(FUT1):c.288T>C (p.Tyr96=)	FUT1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3065556	NM_001384359.1(FUT1):c.277A>G (p.Met93Val)	FUT1 (M93V)	Single nucleotide variant (missense variant)	Bombay phenotype	GUncertain significance
Select item 2472041	NM_001384359.1(FUT1):c.263G>A (p.Arg88Gln)	FUT1 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355852	NM_001384359.1(FUT1):c.253C>G (p.Pro85Ala)	FUT1 (P85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097460	NM_001384359.1(FUT1):c.196G>C (p.Ala66Pro)	FUT1 (A66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291797	NM_001384359.1(FUT1):c.196G>A (p.Ala66Thr)	FUT1 (A66T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233422	NM_001384359.1(FUT1):c.167G>C (p.Cys56Ser)	FUT1 (C56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545401	NM_001384359.1(FUT1):c.101A>G (p.His34Arg)	FUT1 (H34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733897	NM_001384359.1(FUT1):c.57C>G (p.Leu19=)	FUT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3056653	NM_001384359.1(FUT1):c.35C>T (p.Ala12Val)	FUT1 (A12V)	Single nucleotide variant (missense variant)	FUT1-related disorder	GLikely benign
Select item 2473298	NM_001384359.1(FUT1):c.20G>A (p.Arg7His)	FUT1 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 34