ClinVar for MedGen (Select 460468) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247800	NC_000001.10:g.(?_42922237)_(43424429_?)dup	C1orf50, CCDC30 +9 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3247799	NC_000001.10:g.(?_43200757)_(43424429_?)del	C1orf50, CLDN19 +5 more	Deletion	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 3022668	NM_006516.4(SLC2A1):c.517-3C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3019521	NM_006516.4(SLC2A1):c.1113C>T (p.Ala371=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 3018639	NM_006516.4(SLC2A1):c.1278+13A>C	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 3018304	NM_006516.4(SLC2A1):c.452C>A (p.Ala151Asp)	SLC2A1 (A151D)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3015233	NM_006516.4(SLC2A1):c.19-18_19-17del	SLC2A1	Microsatellite (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 3013950	NM_006516.4(SLC2A1):c.1210A>T (p.Ile404Phe)	SLC2A1 (I404F)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3008364	NM_006516.4(SLC2A1):c.309C>T (p.Ala103=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2989086	NM_006516.4(SLC2A1):c.1075-15C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2963218	NM_006516.4(SLC2A1):c.801C>T (p.Ala267=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2920529	NM_006516.4(SLC2A1):c.1058T>C (p.Ile353Thr)	SLC2A1 (I353T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2920513	NM_006516.4(SLC2A1):c.1075-14_1075-10dup	SLC2A1	Duplication (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2914256	NM_006516.4(SLC2A1):c.27G>T (p.Thr9=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
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 2903311	NM_006516.4(SLC2A1):c.115-10C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2902840	NM_006516.4(SLC2A1):c.717T>C (p.His239=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
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 2899821	NM_006516.4(SLC2A1):c.18+8G>A	LOC129930369, SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2885404	NM_006516.4(SLC2A1):c.867+10C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2882284	NM_006516.4(SLC2A1):c.10A>G (p.Ser4Gly)	SLC2A1 (S4G)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2879996	NM_006516.4(SLC2A1):c.590C>T (p.Ala197Val)	SLC2A1 (A197V)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2872374	NM_006516.4(SLC2A1):c.679+19C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2865250	NM_006516.4(SLC2A1):c.1101G>T (p.Leu367=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2862157	NM_006516.4(SLC2A1):c.517-19C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2860367	NM_006516.4(SLC2A1):c.272_273insAAGG (p.Arg93fs)	SLC2A1 (R93fs)	Insertion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2859103	NM_006516.4(SLC2A1):c.969G>A (p.Val323=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2858463	NM_006516.4(SLC2A1):c.769G>T (p.Val257Phe)	SLC2A1 (V257F)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2855923	NM_006516.4(SLC2A1):c.336C>T (p.Phe112=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2855634	NM_006516.4(SLC2A1):c.972+13T>G	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2855633	NM_006516.4(SLC2A1):c.995G>A (p.Gly332Asp)	SLC2A1 (G332D)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2855620	NM_006516.4(SLC2A1):c.1052T>G (p.Met351Arg)	SLC2A1 (M351R)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2855231	NM_006516.4(SLC2A1):c.469_475del (p.Gly157fs)	SLC2A1 (G157fs)	Deletion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2854040	NM_006516.4(SLC2A1):c.300C>T (p.Asn100=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2846727	NM_006516.4(SLC2A1):c.517-2A>C	SLC2A1	Single nucleotide variant (splice acceptor variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2844809	NM_006516.4(SLC2A1):c.1351A>T (p.Lys451Ter)	SLC2A1 (K451*)	Single nucleotide variant (nonsense)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2842321	NM_006516.4(SLC2A1):c.566del (p.Leu189fs)	SLC2A1 (L189fs)	Deletion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2841897	NM_006516.4(SLC2A1):c.679+7del	SLC2A1	Deletion (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2841599	NM_006516.4(SLC2A1):c.305T>C (p.Leu102Pro)	SLC2A1 (L102P)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2836471	NM_006516.4(SLC2A1):c.811C>G (p.Pro271Ala)	SLC2A1 (P271A)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2836371	NM_006516.4(SLC2A1):c.389G>C (p.Gly130Ala)	SLC2A1 (G130A)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely pathogenic
Select item 2832634	NM_006516.4(SLC2A1):c.516+19T>A	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2828934	NM_006516.4(SLC2A1):c.773C>A (p.Thr258Asn)	SLC2A1 (T258N)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2824976	NM_006516.4(SLC2A1):c.180G>C (p.Thr60=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2820453	NM_006516.4(SLC2A1):c.605T>C (p.Ile202Thr)	SLC2A1 (I202T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2818972	NM_006516.4(SLC2A1):c.19-8C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2815351	NM_006516.4(SLC2A1):c.457C>A (p.Arg153Ser)	SLC2A1 (R153S)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely pathogenic
Select item 2813522	NM_006516.4(SLC2A1):c.679+13C>A	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2812608	NM_006516.4(SLC2A1):c.89C>T (p.Thr30Ile)	SLC2A1 (T30I)	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 2804586	NM_006516.4(SLC2A1):c.1198C>A (p.Arg400Ser)	SLC2A1 (R400S)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely pathogenic
Select item 2803419	NM_006516.4(SLC2A1):c.69C>T (p.Ser23=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2801283	NM_006516.4(SLC2A1):c.115-13T>C	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2799485	NM_006516.4(SLC2A1):c.1348T>G (p.Phe450Val)	SLC2A1 (F450V)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2795084	NM_006516.4(SLC2A1):c.964G>C (p.Val322Leu)	SLC2A1 (V322L)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2783449	NM_006516.4(SLC2A1):c.517-6C>A	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2776626	NM_006516.4(SLC2A1):c.276-10C>G	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2772568	NM_006516.4(SLC2A1):c.962C>T (p.Thr321Ile)	SLC2A1 (T321I)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2772243	NM_006516.4(SLC2A1):c.738A>C (p.Glu246Asp)	SLC2A1 (E246D)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GUncertain significance
Select item 2765734	NM_006516.4(SLC2A1):c.608TGC[1] (p.Leu204del)	SLC2A1 (L204del)	Microsatellite (inframe_deletion)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2765488	NM_006516.4(SLC2A1):c.311_314del (p.Phe104fs)	SLC2A1 (F104fs)	Deletion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2763921	NM_006516.4(SLC2A1):c.480C>T (p.His160=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2763836	NM_006516.4(SLC2A1):c.1007T>C (p.Leu336Pro)	SLC2A1 (L336P)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2758120	NM_006516.4(SLC2A1):c.868-5G>A	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2756922	NM_006516.4(SLC2A1):c.516+9G>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2756128	NM_006516.4(SLC2A1):c.683T>C (p.Leu228Pro)	SLC2A1 (L228P)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2748659	NM_006516.4(SLC2A1):c.1A>C (p.Met1Leu)	SLC2A1 (M1L)	Single nucleotide variant (missense variant +1 more)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2748411	NM_006516.4(SLC2A1):c.836dup (p.Leu280fs)	SLC2A1 (L280fs)	Duplication (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2743075	NM_006516.4(SLC2A1):c.892T>A (p.Phe298Ile)	SLC2A1 (F298I)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2741298	NM_006516.4(SLC2A1):c.248_249del (p.Val83fs)	SLC2A1 (V83fs)	Microsatellite (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2737201	NM_006516.4(SLC2A1):c.1210A>G (p.Ile404Val)	SLC2A1 (I404V)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2736116	NM_006516.4(SLC2A1):c.260T>C (p.Val87Ala)	SLC2A1 (V87A)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2736032	NM_006516.4(SLC2A1):c.1279-16T>C	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2733883	NM_006516.4(SLC2A1):c.725del (p.Gln242fs)	SLC2A1 (Q242fs)	Deletion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2733882	NM_006516.4(SLC2A1):c.727G>T (p.Glu243Ter)	SLC2A1 (E243*)	Single nucleotide variant (nonsense)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2733881	NM_006516.4(SLC2A1):c.734A>C (p.Lys245Thr)	SLC2A1 (K245T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2733880	NM_006516.4(SLC2A1):c.740A>G (p.Glu247Gly)	SLC2A1 (E247G)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2733879	NM_006516.4(SLC2A1):c.880T>C (p.Ser294Pro)	SLC2A1 (S294P)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2733717	NM_006516.4(SLC2A1):c.931A>G (p.Ile311Val)	SLC2A1 (I311V)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2732489	NM_006516.4(SLC2A1):c.432G>A (p.Val144=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2726085	NM_006516.4(SLC2A1):c.1141G>A (p.Val381Met)	SLC2A1 (V381M)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2718834	NM_006516.4(SLC2A1):c.710T>A (p.Val237Glu)	SLC2A1 (V237E)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2716992	NM_006516.4(SLC2A1):c.276-5C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2712909	NM_006516.4(SLC2A1):c.276-14G>C	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2710824	NM_006516.4(SLC2A1):c.876T>G (p.Tyr292Ter)	SLC2A1 (Y292*)	Single nucleotide variant (nonsense)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2706015	NM_006516.4(SLC2A1):c.1248C>A (p.Phe416Leu)	SLC2A1 (F416L)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2705914	NM_006516.4(SLC2A1):c.1227C>G (p.Phe409Leu)	SLC2A1 (F409L)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2704118	NM_006516.4(SLC2A1):c.52G>A (p.Gly18Arg)	SLC2A1 (G18R)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2704072	NM_006516.4(SLC2A1):c.952A>C (p.Thr318Pro)	SLC2A1 (T318P)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2703465	NM_006516.4(SLC2A1):c.784C>T (p.Leu262=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2702186	NM_006516.4(SLC2A1):c.1158C>G (p.Ile386Met)	SLC2A1 (I386M)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2701936	NM_006516.4(SLC2A1):c.517-15C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 2701748	NM_006516.4(SLC2A1):c.1100_1101del (p.Leu367fs)	SLC2A1 (L367fs)	Deletion (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2697810	NM_006516.4(SLC2A1):c.640dup (p.Leu214fs)	SLC2A1 (L214fs)	Duplication (frameshift variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 2697280	NM_006516.4(SLC2A1):c.418G>T (p.Val140Leu)	SLC2A1 (V140L)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely pathogenic
Select item 2697106	NM_006516.4(SLC2A1):c.875A>C (p.Tyr292Ser)	SLC2A1 (Y292S)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2697064	NM_006516.4(SLC2A1):c.55G>A (p.Ala19Thr)	SLC2A1 (A19T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2696112	NM_006516.4(SLC2A1):c.322G>C (p.Val108Leu)	SLC2A1 (V108L)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 2690007	NM_006516.4(SLC2A1):c.37A>C (p.Met13Leu)	SLC2A1 (M13L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683711	NM_006516.4(SLC2A1):c.794C>T (p.Ser265Phe)	SLC2A1 (S265F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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