C3553859[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297372	NM_006516.4(SLC2A1):c.*560T>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +5 more	GUncertain significance
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 1307401	NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)	SLC2A1 (H484Y)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 207232	NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)	SLC2A1 (L482P)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GUncertain significance
Select item 139168	NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +8 more	GBenign/Likely benign
Select item 1047248	NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)	SLC2A1 (P479T)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GLikely benign
Select item 452565	NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)	SLC2A1 (S473N)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 207217	NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)	SLC2A1 (G470W)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
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 374095	NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)	SLC2A1 (Q469H)	Single nucleotide variant (missense variant)	Dystonia 9 +13 more	GUncertain significance
Select item 207214	NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)	SLC2A1 (G466S)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 139167	NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign
Select item 96708	NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)	SLC2A1 (R458W)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 511899	NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)	SLC2A1	Single nucleotide variant (synonymous variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GLikely benign
Select item 1031052	NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)	SLC2A1 (F450I)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +5 more	GUncertain significance
Select item 2182226	NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)	SLC2A1 (T448A)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 1203673	NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)	SLC2A1 (V433I)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +7 more	GConflicting classifications of pathogenicity
Select item 95408	NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +8 more	GBenign/Likely benign
Select item 207231	NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser)	SLC2A1 (C429S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 382623	NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +7 more	GBenign/Likely benign
Select item 509365	NM_006516.4(SLC2A1):c.1278+12del	SLC2A1	Deletion (intron variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GBenign/Likely benign
Select item 297379	NM_006516.4(SLC2A1):c.1278+9C>G	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +6 more	GBenign/Likely benign
Select item 1447855	NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)	SLC2A1 (M420I)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 662300	NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)	SLC2A1 (G408D)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +5 more	GUncertain significance
Select item 1304066	NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)	SLC2A1 (G398S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 595526	NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)	SLC2A1 (V391M)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +7 more	GUncertain significance
Select item 139166	NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +7 more	GBenign
Select item 378613	NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 507123	NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=)	SLC2A1	Single nucleotide variant (synonymous variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GLikely benign
Select item 747060	NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GLikely benign
Select item 1721931	NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)	SLC2A1 (A377D)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 207209	NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)	SLC2A1 (V376M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 207208	NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)	SLC2A1 (V370A)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 772934	NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 2197801	NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)	SLC2A1 (P362S)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 378612	NM_006516.4(SLC2A1):c.1075-14G>A	SLC2A1	Single nucleotide variant (intron variant)	Dystonia 9 +6 more	GLikely benign
Select item 1093513	NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +6 more	GLikely benign
Select item 95407	NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +8 more	GBenign
Select item 441137	NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)	SLC2A1 (A354T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +6 more	GUncertain significance
Select item 379532	NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 139165	NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive +7 more	GBenign/Likely benign
Select item 2056982	NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)	SLC2A1 (L338F)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 95406	NM_006516.4(SLC2A1):c.1011C>T (p.His337=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +8 more	GBenign
Select item 198844	NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val)	SLC2A1 (L336V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 448410	NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +7 more	GBenign/Likely benign
Select item 520805	NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)	SLC2A1 (R334Q)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +7 more	GUncertain significance
Select item 198842	NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	SLC2A1 (R333W)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +8 more	GPathogenic/Likely pathogenic
Select item 951860	NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)	SLC2A1 (A331T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GUncertain significance
Select item 139164	NM_006516.4(SLC2A1):c.973-17A>G	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +7 more	GBenign
Select item 509157	NM_006516.4(SLC2A1):c.972+20C>G	SLC2A1	Single nucleotide variant (intron variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GLikely benign
Select item 378611	NM_006516.4(SLC2A1):c.972+17T>A	SLC2A1	Single nucleotide variant (intron variant)	Dystonia 9 +7 more	GLikely benign
Select item 512361	NM_006516.4(SLC2A1):c.972+7C>G	SLC2A1	Single nucleotide variant (intron variant)	Dystonia 9 +6 more	GLikely benign
Select item 379117	NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)	SLC2A1 (V323M)	Single nucleotide variant (missense variant)	Dystonia 9 +7 more	GUncertain significance
Select item 95418	NM_006516.4(SLC2A1):c.966C>T (p.Val322=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +8 more	GBenign
Select item 1264296	NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +6 more	GLikely benign
Select item 444164	NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)	SLC2A1 (T318M)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 493036	NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile)	SLC2A1 (V316I)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 383605	NM_006516.4(SLC2A1):c.945C>T (p.Ile315=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GLikely benign
Select item 207200	NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)	SLC2A1 (I315M)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 697940	NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GLikely benign
Select item 449349	NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)	SLC2A1 (V303L)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 580258	NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)	SLC2A1 (A301G)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 378610	NM_006516.4(SLC2A1):c.885G>A (p.Thr295=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GBenign/Likely benign
Select item 378609	NM_006516.4(SLC2A1):c.864C>T (p.Asn288=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +7 more	GBenign/Likely benign
Select item 511516	NM_006516.4(SLC2A1):c.852G>A (p.Leu284=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +6 more	GLikely benign
Select item 381541	NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter)	SLC2A1 (Q282*)	Single nucleotide variant (nonsense)	Epilepsy, idiopathic generalized, susceptibility to, 12 +3 more	GPathogenic
Select item 384061	NM_006516.4(SLC2A1):c.822C>T (p.Ile274=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 665484	NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)	SLC2A1 (R269H)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +5 more	GUncertain significance
Select item 876778	NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +5 more	GBenign/Likely benign
Select item 493037	NM_006516.4(SLC2A1):c.791G>A (p.Arg264His)	SLC2A1 (R264H)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 198195	NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)	SLC2A1 (R264C)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +7 more	GUncertain significance
Select item 992655	NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)	SLC2A1 (F263L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 806116	NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)	SLC2A1 (K256del)	Microsatellite (inframe_deletion)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 16108	NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)	SLC2A1 (K256V)	Indel (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 1375401	NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)	SLC2A1 (R253W)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 514622	NM_006516.4(SLC2A1):c.750G>A (p.Gln250=)	SLC2A1	Single nucleotide variant (synonymous variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GLikely benign
Select item 167700	NM_006516.4(SLC2A1):c.708C>T (p.Asp236=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GLikely benign
Select item 471348	NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)	SLC2A1 (G233R)	Single nucleotide variant (missense variant)	Dystonia 9 +5 more	GUncertain significance
Select item 697103	NM_006516.4(SLC2A1):c.696C>T (p.Arg232=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +6 more	GLikely benign
Select item 37301	NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)	SLC2A1 (R232C)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1192119	NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +6 more	GLikely benign
Select item 139162	NM_006516.4(SLC2A1):c.680-12C>T	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +6 more	GBenign/Likely benign
Select item 378607	NM_006516.4(SLC2A1):c.680-16C>T	SLC2A1	Single nucleotide variant (intron variant)	Dystonia 9 +6 more	GLikely benign
Select item 139161	NM_006516.4(SLC2A1):c.679+7G>T	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +6 more	GBenign
Select item 95416	NM_006516.4(SLC2A1):c.679+7G>C	SLC2A1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +7 more	GBenign
Select item 1046974	NM_006516.4(SLC2A1):c.679+5G>A	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 842670	NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)	SLC2A1 (R223Q)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +7 more	GUncertain significance
Select item 207193	NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)	SLC2A1 (R223W)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +6 more	GPathogenic
Select item 515240	NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +7 more	GBenign/Likely benign
Select item 1308217	NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)	SLC2A1 (I216V)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 1057778	NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)	SLC2A1 (S210R)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 985976	NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)	SLC2A1 (E209K)	Single nucleotide variant (missense variant)	Dystonia 9 +7 more	GUncertain significance
Select item 392030	NM_006516.4(SLC2A1):c.624C>G (p.Pro208=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive +7 more	GLikely benign
Select item 588214	NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GLikely benign
Select item 828198	NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)	SLC2A1 (C201G)	Single nucleotide variant (missense variant)	SLC2A1-related disorder +7 more	GUncertain significance
Select item 95414	NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign
Select item 1218965	NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)	SLC2A1 (P196L)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 1182494	NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala)	SLC2A1 (P196A)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 651573	NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)	SLC2A1 (L185P)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +7 more	GUncertain significance
Select item 1320581	NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)	SLC2A1 (G175S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity

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