ClinVar for MedGen (Select 330866) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573078	NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)	SLC2A1 (M142L)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2	GLikely pathogenic
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 2182226	NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)	SLC2A1 (T448A)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2108956	NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)	SLC2A1 (R92Q)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 2056982	NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)	SLC2A1 (L338F)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 1803945	NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)	SLC2A1, SLC2A1-DT (K6*)	Single nucleotide variant (nonsense)	Childhood onset GLUT1 deficiency syndrome 2	GPathogenic
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 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 1708121	NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)	SLC2A1 (G84S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1447855	NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)	SLC2A1 (M420I)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 1446752	NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)	SLC2A1 (G125A)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 1439394	NM_006516.4(SLC2A1):c.266G>A (p.Arg89His)	SLC2A1 (R89H)	Single nucleotide variant (missense variant)	SLC2A1-related condition +6 more	GUncertain significance
Select item 1402777	NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)	SLC2A1 (E41K)	Single nucleotide variant (missense variant)	SLC2A1-related condition +6 more	GUncertain significance
Select item 1375401	NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)	SLC2A1 (R253W)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 1338756	NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)	SLC2A1 (F379S)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2	GLikely pathogenic
Select item 1333113	NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT	SLC2A1	Insertion (intron variant)	Hereditary cryohydrocytosis with reduced stomatin +3 more	GBenign
Select item 1328934	NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs)	SLC2A1 (I349fs)	Insertion (frameshift variant)	Childhood onset GLUT1 deficiency syndrome 2	GPathogenic
Select item 1320581	NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)	SLC2A1 (G175S)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GConflicting classifications of pathogenicity
Select item 1314217	NM_006516.4(SLC2A1):c.439G>A (p.Val147Met)	SLC2A1 (V147M)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
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 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 1304066	NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)	SLC2A1 (G398S)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 1264296	NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1218965	NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)	SLC2A1 (P196L)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 1213774	NM_006516.4(SLC2A1):c.18+5439G>T	SLC2A1	Single nucleotide variant (intron variant)	Childhood onset GLUT1 deficiency syndrome 2	GUncertain significance
Select item 1203673	NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)	SLC2A1 (V433I)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +7 more	GConflicting classifications of pathogenicity
Select item 1192119	NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 1184481	NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro)	SLC2A1 (L284P)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2	GLikely pathogenic
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 1101313	NM_006516.4(SLC2A1):c.312C>T (p.Phe104=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +7 more	GLikely benign
Select item 1098716	NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)	SLC2A1 (L231P)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2	GLikely pathogenic
Select item 1093513	NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GLikely benign
Select item 1057778	NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)	SLC2A1 (S210R)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	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 1046974	NM_006516.4(SLC2A1):c.679+5G>A	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive +6 more	GUncertain significance
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 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 989292	NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)	SLC2A1 (S73F)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2	GUncertain significance
Select item 985976	NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)	SLC2A1 (E209K)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 985526	NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)	SLC2A1 (R51H)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 977496	NM_006516.4(SLC2A1):c.293del (p.Met98fs)	SLC2A1 (M98fs)	Deletion (frameshift variant)	Childhood onset GLUT1 deficiency syndrome 2	GPathogenic
Select item 973266	NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)	SLC2A1 (M344fs)	Duplication (frameshift variant)	Dystonia 9 +3 more	GPathogenic
Select item 951860	NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)	SLC2A1 (A331T)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 944647	NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)	SLC2A1 (A171T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 943804	NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)	SLC2A1 (V131A)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 876778	NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +5 more	GBenign/Likely benign
Select item 870347	NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)	SLC2A1 (T310I)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +1 more	GLikely pathogenic
Select item 847673	NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)	SLC2A1 (M96T)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 842670	NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)	SLC2A1 (R223Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 828198	NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)	SLC2A1 (C201G)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +7 more	GUncertain significance
Select item 812757	NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)	SLC2A1 (E246fs)	Microsatellite (frameshift variant)	Childhood onset GLUT1 deficiency syndrome 2 +2 more	GPathogenic
Select item 812510	NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)	SLC2A1 (F434V)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2	GLikely pathogenic
Select item 806116	NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)	SLC2A1 (K256del)	Microsatellite (inframe_deletion)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 772934	NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GLikely benign
Select item 757771	NM_006516.4(SLC2A1):c.123G>A (p.Glu41=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GLikely benign
Select item 747060	NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)	SLC2A1	Single nucleotide variant (synonymous variant)	SLC2A1-related condition +7 more	GLikely benign
Select item 745206	NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +5 more	GLikely benign
Select item 702163	NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +6 more	GLikely benign
Select item 697940	NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GLikely benign
Select item 697103	NM_006516.4(SLC2A1):c.696C>T (p.Arg232=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 680367	NM_006516.4(SLC2A1):c.141A>T (p.Thr47=)	SLC2A1	Single nucleotide variant (synonymous variant)	Childhood onset GLUT1 deficiency syndrome 2 +1 more	GConflicting classifications of pathogenicity
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 663015	NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)	SLC2A1 (Q25K)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +7 more	GUncertain significance
Select item 662300	NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)	SLC2A1 (G408D)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +5 more	GUncertain significance
Select item 662199	NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)	SLC2A1 (N34S)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GPathogenic
Select item 656374	NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met)	SLC2A1 (T9M)	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)	Encephalopathy due to GLUT1 deficiency +7 more	GUncertain significance
Select item 626019	NM_006516.4(SLC2A1):c.75G>A (p.Gln25=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +4 more	GUncertain significance
Select item 626018	NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive +5 more	GConflicting classifications of pathogenicity
Select item 619980	NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)	SLC2A1 (S55fs)	Duplication (frameshift variant)	Hereditary cryohydrocytosis with reduced stomatin +4 more	GPathogenic
Select item 595526	NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)	SLC2A1 (V391M)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +7 more	GUncertain significance
Select item 594894	NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)	SLC2A1 (V108M)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +6 more	GConflicting classifications of pathogenicity
Select item 589975	NM_006516.4(SLC2A1):c.495C>T (p.Val165=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GLikely benign
Select item 588477	NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +7 more	GLikely benign
Select item 588214	NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GLikely benign
Select item 588187	NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu)	SLC2A1 (S113L)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GUncertain significance
Select item 583250	NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)	SLC2A1 (R11C)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GUncertain significance
Select item 581517	NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu)	SLC2A1 (Q46E)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 580258	NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)	SLC2A1 (A301G)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 538683	NM_006516.4(SLC2A1):c.19-5C>T	SLC2A1	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 538681	NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)	SLC2A1 (P58S)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 520805	NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)	SLC2A1 (R334Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 516467	NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)	SLC2A1	Single nucleotide variant (synonymous variant)	SLC2A1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 515240	NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +8 more	GBenign/Likely benign
Select item 514622	NM_006516.4(SLC2A1):c.750G>A (p.Gln250=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GLikely benign
Select item 512361	NM_006516.4(SLC2A1):c.972+7C>G	SLC2A1	Single nucleotide variant (intron variant)	not specified +6 more	GLikely benign
Select item 511899	NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +6 more	GLikely benign
Select item 511516	NM_006516.4(SLC2A1):c.852G>A (p.Leu284=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +6 more	GLikely benign
Select item 509365	NM_006516.4(SLC2A1):c.1278+12del	SLC2A1	Deletion (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 509157	NM_006516.4(SLC2A1):c.972+20C>G	SLC2A1	Single nucleotide variant (intron variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GLikely benign
Select item 507123	NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GLikely 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 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 471348	NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)	SLC2A1 (G233R)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +5 more	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 449349	NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)	SLC2A1 (V303L)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 448897	NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	SLC2A1 (R333Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 448410	NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 444164	NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)	SLC2A1 (T318M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 441137	NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)	SLC2A1 (A354T)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance

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