FUT1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
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
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 564585	GRCh37/hg19 19q13.33(chr19:49169554-49388064)x3	IZUMO1, FUT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 47