ClinVar for Gene (Select 6421) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317851	NM_005066.3(SFPQ):c.1216G>A (p.Asp406Asn)	SFPQ (D406N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317850	NM_005066.3(SFPQ):c.251C>T (p.Pro84Leu)	SFPQ (P84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160891	NM_005066.3(SFPQ):c.452C>G (p.Pro151Arg)	LOC129930102, SFPQ (P151R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160890	NM_005066.3(SFPQ):c.166C>T (p.Pro56Ser)	SFPQ (P56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160889	NM_005066.3(SFPQ):c.1526A>C (p.Glu509Ala)	SFPQ (E509A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160888	NM_005066.3(SFPQ):c.1064C>T (p.Thr355Ile)	SFPQ (T355I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672333	NM_005066.3(SFPQ):c.1428C>T (p.Thr476=)	SFPQ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638644	NM_005066.3(SFPQ):c.63A>C (p.Gly21=)	SFPQ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638643	NM_005066.3(SFPQ):c.768C>T (p.His256=)	LOC129930101, SFPQ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2616142	NM_005066.3(SFPQ):c.421G>T (p.Ala141Ser)	LOC129930102, SFPQ (A141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596897	NM_005066.3(SFPQ):c.748C>T (p.Pro250Ser)	LOC129930101, SFPQ (P250S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592141	NM_005066.3(SFPQ):c.229C>T (p.Pro77Ser)	SFPQ (P77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533676	NM_005066.3(SFPQ):c.799C>G (p.Arg267Gly)	LOC129930101, SFPQ (R267G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517615	NM_005066.3(SFPQ):c.629G>C (p.Gly210Ala)	LOC129930102, SFPQ (G210A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477017	NM_005066.3(SFPQ):c.1322C>T (p.Thr441Ile)	SFPQ (T441I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462995	NM_005066.3(SFPQ):c.1955C>G (p.Thr652Ser)	SFPQ (T652S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365365	NM_005066.3(SFPQ):c.410C>A (p.Pro137Gln)	LOC129930102, SFPQ (P137Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364038	NM_005066.3(SFPQ):c.739C>T (p.His247Tyr)	LOC129930101, SFPQ (H247Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2339066	NM_005066.3(SFPQ):c.76G>A (p.Gly26Ser)	SFPQ (G26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337688	NM_005066.3(SFPQ):c.305C>G (p.Pro102Arg)	SFPQ (P102R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274281	NM_005066.3(SFPQ):c.294G>C (p.Gln98His)	SFPQ (Q98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254618	NM_005066.3(SFPQ):c.524C>T (p.Pro175Leu)	LOC129930102, SFPQ (P175L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250342	NM_005066.3(SFPQ):c.185C>T (p.Pro62Leu)	SFPQ (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242267	NM_005066.3(SFPQ):c.964G>A (p.Glu322Lys)	SFPQ (E322K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230042	NM_005066.3(SFPQ):c.83T>C (p.Leu28Pro)	SFPQ (L28P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230041	NM_005066.3(SFPQ):c.743A>C (p.His248Pro)	LOC129930101, SFPQ (H248P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1334526	NM_005066.3(SFPQ):c.207G>C (p.Gln69His)	SFPQ (Q69H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 806420	GRCh37/hg19 1p34.3(chr1:35321300-35944813)x1	DLGAP3, KIAA0319L +6 more	Copy number loss	not provided	GUncertain significance
Select item 725224	NM_005066.3(SFPQ):c.1692A>G (p.Gln564=)	SFPQ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712023	NM_005066.3(SFPQ):c.1233A>G (p.Thr411=)	SFPQ	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 221777	GRCh37/hg19 1p34.3(chr1:35570364-35656664)x3	SFPQ, ZMYM1	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 43