"Center of Genomic medicine, Geneva, University Hospital of Geneva"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495062	NM_006516.4(SLC2A1):c.1033_1042del (p.Ala345fs)	SLC2A1 (A345fs)	Deletion (frameshift variant)	Encephalopathy due to GLUT1 deficiency	GPathogenic
Select item 433186	NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del)	SLC2A1	Deletion (inframe_deletion)	Childhood onset GLUT1 deficiency syndrome 2	GPathogenic
Select item 627587	NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)	SLC2A1 (G130S)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome +3 more	GPathogenic

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