4017[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 2456885	NM_000150.4(FUT6):c.1057G>A (p.Gly353Ser)	FUT6 (G353S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2222475	NM_000150.4(FUT6):c.1033G>C (p.Glu345Gln)	FUT6 (E345Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280204	NM_000150.4(FUT6):c.983G>A (p.Arg328His)	FUT6 (R328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241528	NM_000150.4(FUT6):c.982C>T (p.Arg328Cys)	FUT6 (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539857	NM_000150.4(FUT6):c.979C>T (p.Pro327Ser)	FUT6 (P327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097526	NM_000150.4(FUT6):c.968A>G (p.Glu323Gly)	FUT6 (E323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396313	NM_000150.4(FUT6):c.964C>T (p.Arg322Trp)	FUT6 (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049322	NM_000150.4(FUT6):c.957T>G (p.Phe319Leu)	FUT6 (F319L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225367	NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter)	FUT6 (Y315*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3097525	NM_000150.4(FUT6):c.908G>T (p.Arg303Leu)	FUT6 (R303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979160	NM_000150.4(FUT6):c.907C>G (p.Arg303Gly)	FUT6 (R303G)	Single nucleotide variant (missense variant)	FUT6-related disorder +1 more	GBenign
Select item 3097524	NM_000150.4(FUT6):c.880G>A (p.Asp294Asn)	FUT6 (D294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526063	NM_000150.4(FUT6):c.877G>T (p.Asp293Tyr)	FUT6 (D293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510433	NM_000150.4(FUT6):c.811G>A (p.Val271Met)	FUT6 (V271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259597	NM_000150.4(FUT6):c.754C>T (p.Pro252Ser)	FUT6 (P252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16239	NM_000150.4(FUT6):c.739G>A (p.Glu247Lys)	FUT6 (E247K)	Single nucleotide variant (missense variant)	Fucosyltransferase 6 deficiency	GUncertain significance
Select item 3097523	NM_000150.4(FUT6):c.727T>C (p.Tyr243His)	FUT6 (Y243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649126	NM_000150.4(FUT6):c.585A>G (p.Ala195=)	FUT6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280211	NM_000150.4(FUT6):c.568G>A (p.Glu190Lys)	FUT6 (E190K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216832	NM_000150.4(FUT6):c.568G>C (p.Glu190Gln)	FUT6 (E190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252117	NM_000150.4(FUT6):c.560C>G (p.Ala187Gly)	FUT6 (A187G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097522	NM_000150.4(FUT6):c.541C>T (p.Pro181Ser)	FUT6 (P181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623382	NM_000150.4(FUT6):c.526G>A (p.Gly176Ser)	FUT6 (G176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395457	NM_000150.4(FUT6):c.518C>T (p.Pro173Leu)	FUT6 (P173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097521	NM_000150.4(FUT6):c.487G>A (p.Asp163Asn)	FUT6 (D163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280208	NM_000150.4(FUT6):c.475C>T (p.Arg159Cys)	FUT6 (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354121	NM_000150.4(FUT6):c.468G>C (p.Met156Ile)	FUT6 (M156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225881	NM_000150.4(FUT6):c.448G>A (p.Gly150Arg)	FUT6 (G150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097520	NM_000150.4(FUT6):c.434T>C (p.Leu145Pro)	FUT6 (L145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280207	NM_000150.4(FUT6):c.430C>A (p.Gln144Lys)	FUT6 (Q144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280209	NM_000150.4(FUT6):c.397T>C (p.Trp133Arg)	FUT6 (W133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097518	NM_000150.4(FUT6):c.377G>A (p.Arg126Gln)	FUT6 (R126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280205	NM_000150.4(FUT6):c.371C>G (p.Pro124Arg)	FUT6 (P124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979161	NM_000150.4(FUT6):c.370C>T (p.Pro124Ser)	FUT6 (P124S)	Single nucleotide variant (missense variant)	Fucosyltransferase 6 deficiency	GBenign
Select item 2244524	NM_000150.4(FUT6):c.323A>G (p.His108Arg)	FUT6 (H108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097517	NM_000150.4(FUT6):c.311C>G (p.Ala104Gly)	FUT6 (A104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390254	NM_000150.4(FUT6):c.310G>A (p.Ala104Thr)	FUT6 (A104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395612	NM_000150.4(FUT6):c.287G>A (p.Arg96His)	FUT6 (R96H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097516	NM_000150.4(FUT6):c.278C>T (p.Thr93Ile)	FUT6 (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401444	NM_000150.4(FUT6):c.236G>A (p.Arg79His)	FUT6 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097515	NM_000150.4(FUT6):c.227C>T (p.Ala76Val)	FUT6 (A76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097514	NM_000150.4(FUT6):c.196C>A (p.Leu66Met)	FUT6 (L66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097513	NM_000150.4(FUT6):c.142T>C (p.Ser48Pro)	FUT6 (S48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053671	NM_000150.4(FUT6):c.138T>C (p.Asn46=)	FUT6	Single nucleotide variant (synonymous variant)	FUT6-related disorder	GLikely benign
Select item 2259203	NM_000150.4(FUT6):c.130T>A (p.Tyr44Asn)	FUT6 (Y44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257576	NM_000150.4(FUT6):c.118G>A (p.Asp40Asn)	FUT6 (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280206	NM_000150.4(FUT6):c.114A>T (p.Gln38His)	FUT6 (Q38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221976	NM_000150.4(FUT6):c.103C>T (p.Arg35Cys)	FUT6 (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097519	NM_000150.4(FUT6):c.41G>A (p.Arg14His)	FUT6 (R14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551302	NM_000150.4(FUT6):c.7C>T (p.Pro3Ser)	FUT6 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	FUT6, HSD11B1L +10 more	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
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
Select item 394138	GRCh37/hg19 19p13.3(chr19:5835025-5843070)x3	FUT3, FUT6	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 61