ClinVar for MedGen (Select 371427) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585614	NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn)	SLC2A1 (I446N)	Single nucleotide variant (missense variant)	Dystonia 9	GUncertain significance
Select item 2585125	NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter)	SLC2A1 (W65*)	Single nucleotide variant (nonsense)	Dystonia 9	GLikely pathogenic
Select item 2430183	NM_006516.4(SLC2A1):c.1141del (p.Val381fs)	SLC2A1 (V381fs)	Deletion (frameshift variant)	Dystonia 9	GPathogenic
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)	not provided +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 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 1708121	NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)	SLC2A1 (G84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1686206	NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)	SLC2A1, SLC2A1-DT (M1V)	Single nucleotide variant (missense variant +1 more)	Dystonia 9 +1 more	GPathogenic
Select item 1686205	NM_006516.4(SLC2A1):c.29del (p.Gly10fs)	SLC2A1 (G10fs)	Deletion (frameshift variant)	Dystonia 9	GPathogenic
Select item 1686204	NM_006516.4(SLC2A1):c.37dup (p.Met13fs)	SLC2A1 (M13fs)	Duplication (frameshift variant)	Dystonia 9	GPathogenic
Select item 1686203	NM_006516.4(SLC2A1):c.115-2A>C	SLC2A1	Single nucleotide variant (splice acceptor variant)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic
Select item 1686202	NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val)	SLC2A1 (G175V)	Single nucleotide variant (missense variant)	Dystonia 9	GPathogenic
Select item 1686201	NM_006516.4(SLC2A1):c.635del (p.Arg212fs)	SLC2A1 (R212fs)	Deletion (frameshift variant)	Dystonia 9	GPathogenic
Select item 1686200	NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs)	SLC2A1 (F379fs)	Deletion (frameshift variant)	Dystonia 9	GPathogenic
Select item 1686199	NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs)	SLC2A1 (V406fs)	Duplication (frameshift variant)	Dystonia 9	GPathogenic
Select item 1686198	NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs)	SLC2A1 (C429fs)	Microsatellite (frameshift variant)	Dystonia 9	GPathogenic
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)	Dystonia 9 +6 more	GUncertain significance
Select item 1402777	NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)	SLC2A1 (E41K)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +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 1335936	NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)	SLC2A1 (E247*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 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 1203673	NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)	SLC2A1 (V433I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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)	Dystonia 9 +7 more	GLikely benign
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)	not provided +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 1031648	NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser)	SLC2A1 (P383S)	Single nucleotide variant (missense variant)	Dystonia 9	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 985976	NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)	SLC2A1 (E209K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GUncertain significance
Select item 943804	NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)	SLC2A1 (V131A)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GUncertain significance
Select item 876874	NM_006516.4(SLC2A1):c.-202G>C	SLC2A1	Single nucleotide variant (5 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 876820	NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +1 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 876721	NM_006516.4(SLC2A1):c.*107G>A	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
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 876719	NM_006516.4(SLC2A1):c.*285C>T	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
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 875876	NM_006516.4(SLC2A1):c.-194G>A	SLC2A1	Single nucleotide variant (5 prime UTR variant)	Encephalopathy due to GLUT1 deficiency +1 more	GUncertain significance
Select item 875875	NM_006516.4(SLC2A1):c.-129G>T	SLC2A1	Single nucleotide variant (5 prime UTR variant)	Dystonia 9 +1 more	GUncertain significance
Select item 875828	NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)	SLC2A1 (G111V)	Single nucleotide variant (missense 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 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 875725	NM_006516.4(SLC2A1):c.*463T>C	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonia 9 +1 more	GBenign
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 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 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 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 842670	NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)	SLC2A1 (R223Q)	Single nucleotide variant (missense variant)	Dystonia 9 +7 more	GUncertain significance
Select item 828198	NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)	SLC2A1 (C201G)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +7 more	GUncertain significance
Select item 806116	NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)	SLC2A1 (K256del)	Microsatellite (inframe_deletion)	not provided +6 more	GUncertain significance
Select item 806115	NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +3 more	GConflicting classifications of pathogenicity
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)	Dystonia 9 +6 more	GLikely benign
Select item 747060	NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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)	Dystonia 9 +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 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)	Inborn genetic diseases +8 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)	Hereditary cryohydrocytosis with reduced stomatin +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 +7 more	GUncertain significance
Select item 651573	NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)	SLC2A1 (L185P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Dystonia 9 +6 more	GLikely benign
Select item 588477	NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +7 more	GLikely benign
Select item 588214	NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +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 546093	NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)	SLC2A1 (R218H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 538683	NM_006516.4(SLC2A1):c.19-5C>T	SLC2A1	Single nucleotide variant (intron variant)	Childhood onset GLUT1 deficiency syndrome 2 +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)	Hereditary cryohydrocytosis with reduced stomatin +7 more	GConflicting classifications of pathogenicity

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