ClinVar for MedGen (Select 1645412) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 317

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682545	NM_006516.4(SLC2A1):c.2T>G (p.Met1Arg)	SLC2A1 (M1R)	Single nucleotide variant (missense variant +1 more)	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 2626864	NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)	SLC2A1 (Q305*)	Single nucleotide variant (nonsense)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
Select item 2585110	NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)	SLC2A1 (E246fs)	Deletion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 2584846	NM_006516.4(SLC2A1):c.964del (p.Val322fs)	SLC2A1 (V322fs)	Deletion (frameshift variant)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
Select item 2582491	NM_006516.4(SLC2A1):c.679+3A>G	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency	GUncertain significance
Select item 2500340	NM_006516.4(SLC2A1):c.839T>A (p.Leu280Gln)	SLC2A1 (L280Q)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency	GUncertain significance
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 1810596	NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)	SLC2A1 (R249fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1804053	NM_006516.4(SLC2A1):c.500del (p.Gly167fs)	SLC2A1 (G167fs)	Deletion (frameshift variant)	Encephalopathy due to GLUT1 deficiency	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 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 1698134	NM_006516.4(SLC2A1):c.115-2A>G	SLC2A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1691858	NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val)	SLC2A1 (A70V)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
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 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 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)	Hereditary cryohydrocytosis with reduced stomatin +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 disorder +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 1326270	NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs)	SLC2A1 (F450fs)	Deletion (frameshift variant)	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 1321286	NM_006516.4(SLC2A1):c.961A>C (p.Thr321Pro)	SLC2A1 (T321P)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency	GUncertain significance
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 1320153	NM_006516.4(SLC2A1):c.680-3C>G	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
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 1073271	NM_006516.4(SLC2A1):c.634del (p.Arg212fs)	SLC2A1 (R212fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1069398	NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)	SLC2A1 (W186*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
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 1048756	NM_006516.4(SLC2A1):c.275+1del	SLC2A1	Deletion (splice donor variant)	Encephalopathy due to GLUT1 deficiency	GPathogenic
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 1027520	NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter)	SLC2A1 (Q46*)	Single nucleotide variant (nonsense)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GPathogenic
Select item 1027418	NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)	SLC2A1 (E329K)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1008366	NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val)	SLC2A1 (A301V)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +1 more	GConflicting classifications of pathogenicity
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)	Encephalopathy due to GLUT1 deficiency +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 976168	NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)	SLC2A1 (G167R)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 975958	NM_006516.4(SLC2A1):c.339del (p.Lys114fs)	SLC2A1 (K114fs)	Deletion (frameshift variant)	Encephalopathy due to GLUT1 deficiency +1 more	GLikely pathogenic
Select item 975168	NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)	SLC2A1 (M244T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	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 871442	NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu)	SLC2A1 (P485L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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)	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)	SLC2A1-related disorder +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 807495	NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer)	SLC2A1	Insertion (inframe_insertion)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
Select item 807494	NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly)	SLC2A1 (W412G)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
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 801471	NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs)	SLC2A1 (V16fs)	Insertion (frameshift variant)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
Select item 801470	NM_006516.4(SLC2A1):c.274del (p.Arg92fs)	SLC2A1 (R92fs)	Deletion (frameshift variant)	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 801469	NM_006516.4(SLC2A1):c.624del (p.Glu209fs)	SLC2A1 (E209fs)	Deletion (frameshift variant)	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 801468	NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter)	SLC2A1 (E209*)	Single nucleotide variant (nonsense)	Encephalopathy due to GLUT1 deficiency	GPathogenic
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)	SLC2A1-related disorder +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)	Childhood onset GLUT1 deficiency syndrome 2 +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 666289	NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)	SLC2A1 (N34K)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency	GLikely pathogenic
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

<< First< Prev

Page of 4