ClinVar for Gene (Select 6518) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319478	NM_003039.3(SLC2A5):c.824G>A (p.Arg275His)	SLC2A5 (R231H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319477	NM_003039.3(SLC2A5):c.479G>A (p.Gly160Glu)	SLC2A5 (G116E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319476	NM_003039.3(SLC2A5):c.1414A>C (p.Asn472His)	SLC2A5 (N428H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319475	NM_003039.3(SLC2A5):c.514G>A (p.Val172Ile)	SLC2A5 (V25I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3164173	NM_003039.3(SLC2A5):c.950T>G (p.Val317Gly)	SLC2A5 (V317G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164172	NM_003039.3(SLC2A5):c.748A>G (p.Ile250Val)	SLC2A5 (I103V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164170	NM_003039.3(SLC2A5):c.542G>A (p.Gly181Asp)	SLC2A5 (G137D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164169	NM_003039.3(SLC2A5):c.532C>G (p.Gln178Glu)	SLC2A5 (Q31E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164168	NM_003039.3(SLC2A5):c.476G>A (p.Arg159Gln)	SLC2A5 (R115Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164167	NM_003039.3(SLC2A5):c.203C>T (p.Thr68Met)	SLC2A5 (T68M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164166	NM_003039.3(SLC2A5):c.1466A>G (p.Glu489Gly)	SLC2A5 (E342G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164165	NM_003039.3(SLC2A5):c.1340T>G (p.Val447Gly)	LOC129929307, SLC2A5 (V403G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164163	NM_003039.3(SLC2A5):c.1276G>A (p.Val426Met)	SLC2A5 (V426M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164162	NM_003039.3(SLC2A5):c.1003G>A (p.Val335Met)	SLC2A5 (V291M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2690008	NM_003039.3(SLC2A5):c.648C>A (p.Ser216Arg)	LOC129388438, SLC2A5 (S172R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638186	NM_003039.3(SLC2A5):c.832C>T (p.Leu278=)	SLC2A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617575	NM_003039.3(SLC2A5):c.1393G>A (p.Ala465Thr)	SLC2A5 (A421T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612375	NM_003039.3(SLC2A5):c.919G>A (p.Ala307Thr)	SLC2A5 (A263T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608300	NM_003039.3(SLC2A5):c.131T>G (p.Leu44Arg)	SLC2A5 (L44R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596519	NM_003039.3(SLC2A5):c.193T>A (p.Phe65Ile)	SLC2A5 (F21I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481144	NM_003039.3(SLC2A5):c.112G>A (p.Ala38Thr)	SLC2A5 (A38T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478704	NM_003039.3(SLC2A5):c.59C>T (p.Ala20Val)	SLC2A5 (A20V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472128	NM_003039.3(SLC2A5):c.582C>G (p.Ile194Met)	LOC129388438, SLC2A5 (I194M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2464838	NM_003039.3(SLC2A5):c.712C>T (p.Arg238Cys)	SLC2A5 (R91C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2410263	NM_003039.3(SLC2A5):c.791C>G (p.Ser264Cys)	SLC2A5 (S220C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408443	NM_003039.3(SLC2A5):c.433G>A (p.Val145Met)	SLC2A5 (V101M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395020	NM_003039.3(SLC2A5):c.778G>C (p.Ala260Pro)	SLC2A5 (A216P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366560	NM_003039.3(SLC2A5):c.401T>C (p.Leu134Ser)	SLC2A5 (L134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334336	NM_003039.3(SLC2A5):c.1247G>A (p.Gly416Asp)	SLC2A5 (G372D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328814	NM_003039.3(SLC2A5):c.1057C>T (p.Leu353Phe)	SLC2A5 (L206F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297595	NM_003039.3(SLC2A5):c.1451T>C (p.Val484Ala)	SLC2A5 (V440A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281996	NM_003039.3(SLC2A5):c.1312G>A (p.Gly438Ser)	LOC129929307, SLC2A5 (G394S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259548	NM_003039.3(SLC2A5):c.668A>C (p.Gln223Pro)	LOC129388438, SLC2A5 (Q179P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2223962	NM_003039.3(SLC2A5):c.147T>G (p.Phe49Leu)	SLC2A5 (F49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210255	NM_003039.3(SLC2A5):c.490G>C (p.Val164Leu)	SLC2A5 (V164L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208023	NM_003039.3(SLC2A5):c.929C>G (p.Pro310Arg)	SLC2A5 (P266R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206914	NM_003039.3(SLC2A5):c.853A>C (p.Met285Leu)	SLC2A5 (M138L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205202	NM_003039.3(SLC2A5):c.53C>T (p.Ala18Val)	SLC2A5 (A18V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807831	GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1	CA6, CLSTN1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1684066	NM_003039.3(SLC2A5):c.997-250del	SLC2A5	Deletion (intron variant)	not provided	GLikely benign
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1290692	NM_003039.3(SLC2A5):c.132+263G>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281129	NM_003039.3(SLC2A5):c.1174+159C>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268127	NM_003039.3(SLC2A5):c.1175-147G>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261855	NM_003039.2(SLC2A5):c.-272C>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260608	NM_003039.3(SLC2A5):c.293+155del	SLC2A5	Deletion (intron variant)	not provided	GBenign
Select item 1259715	NM_003039.3(SLC2A5):c.293+136T>C	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256695	NM_003039.3(SLC2A5):c.1098+145C>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248972	NM_003039.3(SLC2A5):c.34-287G>T	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248915	NM_003039.3(SLC2A5):c.1174+42del	SLC2A5	Deletion (intron variant)	not provided	GBenign
Select item 1246113	NM_003039.3(SLC2A5):c.1175-189G>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242050	NM_003039.3(SLC2A5):c.133-81A>G	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237506	NM_001328619.2(SLC2A5):c.-58-292T>C	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236505	NM_003039.3(SLC2A5):c.886-6T>C	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230135	NM_003039.3(SLC2A5):c.294-56C>A	SLC2A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226744	NM_003039.3(SLC2A5):c.572-231C>T	SLC2A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1222709	NM_003039.3(SLC2A5):c.-25G>A	SLC2A5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 980397	GRCh37/hg19 1p36.23(chr1:8869809-9115610)x3	ENO1, CA6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 771300	NM_003039.3(SLC2A5):c.328A>G (p.Ile110Val)	SLC2A5 (I66V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723377	NM_003039.3(SLC2A5):c.96T>G (p.Tyr32Ter)	SLC2A5 (M1R +1 more)	Single nucleotide variant (nonsense +3 more)	not provided	GLikely benign
Select item 686112	GRCh37/hg19 1p36.23-36.22(chr1:8698108-9266627)x3	CA6, ENO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 565071	GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1	RERE, SLC45A1 +19 more	Copy number loss	not provided	GPathogenic
Select item 565070	GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1	SLC2A5, PER3 +16 more	Copy number loss	not provided	GPathogenic
Select item 442515	GRCh37/hg19 1p36.23-36.22(chr1:8855705-9389530)x1	CA6, ENO1 +8 more	Copy number loss	See cases	GLikely benign
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 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 207859	NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp)	SLC2A5 (R270W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	Gassociation
Select item 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic

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