"Eurofins Ntd Llc (ga)"[submitter] AND "SLC2A1"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193690	NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 139167	NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign
Select item 193689	NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter)	SLC2A1 (Y432*)	Single nucleotide variant (nonsense)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic
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 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 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 212202	NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)	SLC2A1 (A345V)	Single nucleotide variant (missense variant)	Dystonia 9 +5 more	GConflicting classifications of pathogenicity
Select item 198843	NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)	SLC2A1 (I339T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +8 more	GConflicting classifications of pathogenicity
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 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 286943	NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 95419	NM_006516.4(SLC2A1):c.980_981del (p.Val327fs)	SLC2A1 (V327fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 198543	NM_006516.4(SLC2A1):c.972+7del	SLC2A1	Deletion (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 289839	NM_006516.4(SLC2A1):c.966_967del (p.Ser324fs)	SLC2A1 (S324fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 16113	NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)	SLC2A1 (G314S)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +3 more	GPathogenic
Select item 198544	NM_006516.4(SLC2A1):c.938C>A (p.Ser313Tyr)	SLC2A1 (S313Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198542	NM_006516.4(SLC2A1):c.907dup (p.Val303fs)	SLC2A1 (V303fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 198545	NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139163	NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 95417	NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
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 521457	NM_006516.4(SLC2A1):c.680-11G>A	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +3 more	GPathogenic
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 139160	NM_006516.4(SLC2A1):c.679+4C>T	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 95415	NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys)	SLC2A1 (R218C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 197789	NM_006516.4(SLC2A1):c.567G>C (p.Leu189=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 139158	NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +8 more	GBenign/Likely benign
Select item 197282	NM_006516.4(SLC2A1):c.498C>T (p.Val166=)	SLC2A1	Single nucleotide variant (synonymous variant)	GLUT1 deficiency syndrome 1, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 197281	NM_006516.4(SLC2A1):c.458G>A (p.Arg153His)	SLC2A1 (R153H)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 95412	NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign
Select item 95411	NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)	SLC2A1	Single nucleotide variant (synonymous variant)	Hereditary cryohydrocytosis with reduced stomatin +8 more	GBenign
Select item 16111	NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	SLC2A1 (R126H)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 16118	NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	SLC2A1 (R126C)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +4 more	GPathogenic/Likely pathogenic
Select item 594894	NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)	SLC2A1 (V108M)	Single nucleotide variant (missense variant)	Childhood onset GLUT1 deficiency syndrome 2 +6 more	GConflicting classifications of pathogenicity
Select item 95410	NM_006516.4(SLC2A1):c.321C>T (p.Ala107=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297381	NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)	SLC2A1 (F104L)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +8 more	GBenign/Likely benign
Select item 139157	NM_006516.4(SLC2A1):c.276-7T>C	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 207181	NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 207180	NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +7 more	GConflicting classifications of pathogenicity
Select item 406881	NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)	SLC2A1 (T60M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196439	NM_006516.4(SLC2A1):c.164G>C (p.Ser55Thr)	SLC2A1 (S55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167701	NM_006516.4(SLC2A1):c.114+7A>G	SLC2A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 195267	NM_006516.4(SLC2A1):c.80G>A (p.Gly27Asp)	SLC2A1 (G27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597357	NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)	SLC2A1 (G17R)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +2 more	GLikely pathogenic
Select item 95413	NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign
Select item 139155	NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +8 more	GBenign/Likely benign
Select item 95409	NM_006516.4(SLC2A1):c.19-4G>A	SLC2A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 424896	NM_006516.4(SLC2A1):c.19-207T>C	SLC2A1	Single nucleotide variant (intron variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +7 more	GBenign

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Items: 56