SLC2A7[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
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 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 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 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 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 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	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 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
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 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	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 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 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 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 2290498	NM_207420.3(SLC2A7):c.1463A>G (p.Lys488Arg)	SLC2A7 (K488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164189	NM_207420.3(SLC2A7):c.1420T>A (p.Phe474Ile)	SLC2A7 (F474I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491500	NM_207420.3(SLC2A7):c.1409A>G (p.Lys470Arg)	SLC2A7 (K470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317066	NM_207420.3(SLC2A7):c.1333G>C (p.Ala445Pro)	SLC2A7 (A445P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164188	NM_207420.3(SLC2A7):c.1330G>A (p.Gly444Ser)	SLC2A7 (G444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486012	NM_207420.3(SLC2A7):c.1278G>T (p.Trp426Cys)	SLC2A7 (W426C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320407	NM_207420.3(SLC2A7):c.1255A>G (p.Met419Val)	SLC2A7 (M419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316368	NM_207420.3(SLC2A7):c.1205C>T (p.Ser402Leu)	SLC2A7 (S402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269688	NM_207420.3(SLC2A7):c.1201C>G (p.Pro401Ala)	SLC2A7 (P401A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318857	NM_207420.3(SLC2A7):c.1172C>G (p.Ala391Gly)	SLC2A7 (A391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164187	NM_207420.3(SLC2A7):c.1171G>A (p.Ala391Thr)	SLC2A7 (A391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164185	NM_207420.3(SLC2A7):c.1162G>A (p.Ala388Thr)	SLC2A7 (A388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367359	NM_207420.3(SLC2A7):c.1153T>A (p.Cys385Ser)	SLC2A7 (C385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638182	NM_207420.3(SLC2A7):c.1116+6A>G	SLC2A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3164184	NM_207420.3(SLC2A7):c.1060G>A (p.Gly354Ser)	SLC2A7 (G354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527255	NM_207420.3(SLC2A7):c.1055T>A (p.Leu352Gln)	SLC2A7 (L352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469615	NM_207420.3(SLC2A7):c.1048C>T (p.Leu350Phe)	SLC2A7 (L350F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509723	NM_207420.3(SLC2A7):c.1042C>T (p.Arg348Trp)	SLC2A7 (R348W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281687	NM_207420.3(SLC2A7):c.1039C>T (p.Arg347Trp)	SLC2A7 (R347W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595872	NM_207420.3(SLC2A7):c.1031G>A (p.Arg344Gln)	SLC2A7 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164183	NM_207420.3(SLC2A7):c.1029G>T (p.Glu343Asp)	SLC2A7 (E343D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775501	NM_207420.3(SLC2A7):c.1007T>A (p.Ile336Asn)	SLC2A7 (I336N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164198	NM_207420.3(SLC2A7):c.998T>G (p.Val333Gly)	SLC2A7 (V333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164197	NM_207420.3(SLC2A7):c.988G>A (p.Val330Ile)	SLC2A7 (V330I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369849	NM_207420.3(SLC2A7):c.985G>A (p.Val329Ile)	SLC2A7 (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283259	NM_207420.3(SLC2A7):c.938C>T (p.Ala313Val)	SLC2A7 (A313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638183	NM_207420.3(SLC2A7):c.849G>A (p.Gln283=)	SLC2A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164196	NM_207420.3(SLC2A7):c.833G>T (p.Arg278Leu)	SLC2A7 (R278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164195	NM_207420.3(SLC2A7):c.796G>A (p.Glu266Lys)	SLC2A7 (E266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331078	NM_207420.3(SLC2A7):c.788A>C (p.Glu263Ala)	SLC2A7 (E263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775502	NM_207420.3(SLC2A7):c.774G>A (p.Ala258=)	SLC2A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2562116	NM_207420.3(SLC2A7):c.773C>T (p.Ala258Val)	SLC2A7 (A258V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377037	NM_207420.3(SLC2A7):c.740C>T (p.Thr247Met)	SLC2A7 (T247M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164194	NM_207420.3(SLC2A7):c.695A>G (p.Asp232Gly)	SLC2A7 (D232G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487109	NM_207420.3(SLC2A7):c.689A>G (p.Lys230Arg)	SLC2A7 (K230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638184	NM_207420.3(SLC2A7):c.670C>T (p.Arg224Cys)	SLC2A7 (R224C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2405588	NM_207420.3(SLC2A7):c.653T>C (p.Phe218Ser)	SLC2A7 (F218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221324	NM_207420.3(SLC2A7):c.526G>A (p.Val176Ile)	SLC2A7 (V176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164192	NM_207420.3(SLC2A7):c.452C>T (p.Ala151Val)	SLC2A7 (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343824	NM_207420.3(SLC2A7):c.450C>A (p.Ser150Arg)	SLC2A7 (S150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164191	NM_207420.3(SLC2A7):c.443C>T (p.Ser148Phe)	SLC2A7 (S148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334260	NM_207420.3(SLC2A7):c.355G>A (p.Ala119Thr)	SLC2A7 (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509448	NM_207420.3(SLC2A7):c.307G>A (p.Gly103Ser)	SLC2A7 (G103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343927	NM_207420.3(SLC2A7):c.299A>T (p.Asp100Val)	SLC2A7 (D100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164190	NM_207420.3(SLC2A7):c.290T>C (p.Leu97Pro)	SLC2A7 (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369798	NM_207420.3(SLC2A7):c.241G>A (p.Val81Ile)	SLC2A7 (V81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248847	NM_207420.3(SLC2A7):c.238A>C (p.Thr80Pro)	SLC2A7 (T80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364975	NM_207420.3(SLC2A7):c.208G>A (p.Gly70Arg)	SLC2A7 (G70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780761	NM_207420.3(SLC2A7):c.194C>A (p.Ala65Glu)	SLC2A7 (A65E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2602073	NM_207420.3(SLC2A7):c.193G>A (p.Ala65Thr)	SLC2A7 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638185	NM_207420.3(SLC2A7):c.192C>T (p.His64=)	SLC2A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301951	NM_207420.3(SLC2A7):c.160T>G (p.Ser54Ala)	SLC2A7 (S54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333553	NM_207420.3(SLC2A7):c.116G>C (p.Gly39Ala)	SLC2A7 (G39A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164193	NM_207420.3(SLC2A7):c.48G>T (p.Glu16Asp)	SLC2A7 (E16D)	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 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
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 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980397	GRCh37/hg19 1p36.23(chr1:8869809-9115610)x3	ENO1, CA6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814052	GRCh37/hg19 1p36.23(chr1:8850514-9092079)x3	ENO1, SLC2A7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687559	GRCh37/hg19 1p36.23(chr1:8850514-9094343)x3	CA6, ENO1 +3 more	Copy number gain	not provided	GUncertain significance
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

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Items: 96