SLC2A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 16105	NC_000001.11:g.(?_42925375)_(42959176_?)del	LOC121725020, LOC129930362 +9 more	Deletion	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 297350	NM_006516.4(SLC2A1):c.*1611T>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297351	NM_006516.4(SLC2A1):c.*1588G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GBenign
Select item 297352	NM_006516.4(SLC2A1):c.*1587A>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
Select item 297353	NM_006516.4(SLC2A1):c.*1564C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297355	NM_006516.4(SLC2A1):c.*1337A>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297354	NM_006516.4(SLC2A1):c.*1337A>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 873784	NM_006516.4(SLC2A1):c.*1321T>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297356	NM_006516.4(SLC2A1):c.*1281A>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297357	NM_006516.4(SLC2A1):c.*1246G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297358	NM_006516.4(SLC2A1):c.*1213G>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GBenign
Select item 297359	NM_006516.4(SLC2A1):c.*1205C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297360	NM_006516.4(SLC2A1):c.*1149C>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297361	NM_006516.4(SLC2A1):c.*1147G>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297362	NM_006516.4(SLC2A1):c.*1081T>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 875681	NM_006516.4(SLC2A1):c.*1079T>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297363	NM_006516.4(SLC2A1):c.*1016A>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297364	NM_006516.4(SLC2A1):c.*971G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GBenign
Select item 297365	NM_006516.4(SLC2A1):c.*784A>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 876676	NM_006516.4(SLC2A1):c.*775A>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297366	NM_006516.4(SLC2A1):c.*750T>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297367	NM_006516.4(SLC2A1):c.*651G>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297368	NM_006516.4(SLC2A1):c.*626G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
Select item 873841	NM_006516.4(SLC2A1):c.*609G>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297369	NM_006516.4(SLC2A1):c.*597G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297370	NM_006516.4(SLC2A1):c.*587A>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297371	NM_006516.4(SLC2A1):c.*571C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
Select item 297372	NM_006516.4(SLC2A1):c.*560T>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GUncertain significance
Select item 297373	NM_006516.4(SLC2A1):c.*514G>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 875725	NM_006516.4(SLC2A1):c.*463T>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
Select item 297374	NM_006516.4(SLC2A1):c.*462G>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GBenign
Select item 875726	NM_006516.4(SLC2A1):c.*413G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 875727	NM_006516.4(SLC2A1):c.*368A>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 297375	NM_006516.4(SLC2A1):c.*346G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
Select item 297376	NM_006516.4(SLC2A1):c.*322T>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonic disorder +1 more	GUncertain significance
Select item 876719	NM_006516.4(SLC2A1):c.*285C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
Select item 876720	NM_006516.4(SLC2A1):c.*216C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 876721	NM_006516.4(SLC2A1):c.*107G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 873892	NM_006516.4(SLC2A1):c.*92G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 297377	NM_006516.4(SLC2A1):c.*60C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GBenign
Select item 297378	NM_006516.4(SLC2A1):c.*22G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 584015	NC_000001.11:g.(?_42927021)_(42931226_?)del	SLC2A1	Deletion	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 378614	NM_006516.4(SLC2A1):c.*3C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 493035	NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 871442	NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu)	SLC2A1 (P485L)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic
Select item 1307401	NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)	SLC2A1 (H484Y)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 193690	NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 207232	NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)	SLC2A1 (L482P)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 1484560	NM_006516.4(SLC2A1):c.1444C>A (p.Leu482Met)	SLC2A1 (L482M)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2153000	NM_006516.4(SLC2A1):c.1440G>A (p.Glu480=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 681030	NM_006516.4(SLC2A1):c.1438G>A (p.Glu480Lys)	SLC2A1 (E480K)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 139168	NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)	SLC2A1	Single nucleotide variant (synonymous variant)	Childhood onset GLUT1 deficiency syndrome 2 +8 more	GBenign/Likely benign
Select item 1709236	NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His)	SLC2A1 (P479H)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2	GUncertain significance
Select item 836070	NM_006516.4(SLC2A1):c.1436C>T (p.Pro479Leu)	SLC2A1 (P479L)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1047248	NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)	SLC2A1 (P479T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +6 more	GLikely benign
Select item 1308308	NM_006516.4(SLC2A1):c.1426G>A (p.Asp476Asn)	SLC2A1 (D476N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840410	NM_006516.4(SLC2A1):c.1424G>A (p.Ser475Asn)	SLC2A1 (S475N)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1312873	NM_006516.4(SLC2A1):c.1422A>T (p.Gln474His)	SLC2A1 (Q474H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612216	NM_006516.4(SLC2A1):c.1421A>C (p.Gln474Pro)	SLC2A1 (Q474P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 452565	NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)	SLC2A1 (S473N)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 1973640	NM_006516.4(SLC2A1):c.1417A>G (p.Ser473Gly)	SLC2A1 (S473G)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1454405	NM_006516.4(SLC2A1):c.1412dup (p.Ala472fs)	SLC2A1 (A472fs)	Duplication (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 1438958	NM_006516.4(SLC2A1):c.1412del (p.Gly471fs)	SLC2A1 (G471fs)	Deletion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 1020711	NM_006516.4(SLC2A1):c.1412G>T (p.Gly471Val)	SLC2A1 (G471V)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1571415	NM_006516.4(SLC2A1):c.1410G>T (p.Gly470=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 391452	NM_006516.4(SLC2A1):c.1410G>A (p.Gly470=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 207217	NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)	SLC2A1 (G470W)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 207216	NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)	SLC2A1 (G470R)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 207215	NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)	SLC2A1 (G470R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2418357	NM_006516.4(SLC2A1):c.1407G>A (p.Gln469=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 374095	NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)	SLC2A1 (Q469H)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +13 more	GUncertain significance
Select item 589970	NM_006516.4(SLC2A1):c.1399_1405dup (p.Gln469fs)	SLC2A1 (Q469fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 503900	NM_006516.4(SLC2A1):c.1406del (p.Gln469fs)	SLC2A1 (Q469fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1707507	NM_006516.4(SLC2A1):c.1403G>A (p.Arg468Gln)	SLC2A1 (R468Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309959	NM_006516.4(SLC2A1):c.1403G>T (p.Arg468Leu)	SLC2A1 (R468L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16120	NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	SLC2A1 (R468W)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 207214	NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)	SLC2A1 (G466S)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +7 more	GUncertain significance
Select item 212203	NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 2902407	NM_006516.4(SLC2A1):c.1390G>A (p.Ala464Thr)	SLC2A1 (A464T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1085807	NM_006516.4(SLC2A1):c.1389C>T (p.Ile463=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 1364139	NM_006516.4(SLC2A1):c.1387A>T (p.Ile463Phe)	SLC2A1 (I463F)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2805211	NM_006516.4(SLC2A1):c.1382A>T (p.Asp461Val)	SLC2A1 (D461V)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2147048	NM_006516.4(SLC2A1):c.1381G>A (p.Asp461Asn)	SLC2A1 (D461N)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2910688	NM_006516.4(SLC2A1):c.1380C>T (p.Phe460=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2113925	NM_006516.4(SLC2A1):c.1376C>A (p.Thr459Asn)	SLC2A1 (T459N)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1806702	NM_006516.4(SLC2A1):c.1373G>C (p.Arg458Pro)	SLC2A1 (R458P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 380233	NM_006516.4(SLC2A1):c.1373G>A (p.Arg458Gln)	SLC2A1 (R458Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 139167	NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +8 more	GBenign
Select item 96708	NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)	SLC2A1 (R458W)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GPathogenic/Likely pathogenic
Select item 2498016	NM_006516.4(SLC2A1):c.1367A>C (p.Lys456Thr)	SLC2A1 (K456T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377374	NM_006516.4(SLC2A1):c.1366A>G (p.Lys456Glu)	SLC2A1 (K456E)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 16106	NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter)	SLC2A1 (K456*)	Single nucleotide variant (nonsense)	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 511899	NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1012523	NM_006516.4(SLC2A1):c.1359T>C (p.Pro453=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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