C4551966[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 662300	NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)	SLC2A1 (G408D)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +5 more	GUncertain significance
Select item 280046	NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)	SLC2A1 (R400H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 448897	NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	SLC2A1 (R333Q)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +3 more	GPathogenic/Likely pathogenic
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 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 207193	NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)	SLC2A1 (R223W)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +6 more	GPathogenic
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 1686206	NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)	SLC2A1, SLC2A1-DT (M1V)	Single nucleotide variant (missense variant +1 more)	Encephalopathy due to GLUT1 deficiency +1 more	GPathogenic