C3553859[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96708	NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)	SLC2A1 (R458W)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
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 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 471348	NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)	SLC2A1 (G233R)	Single nucleotide variant (missense variant)	Dystonia 9 +5 more	GUncertain significance
Select item 139162	NM_006516.4(SLC2A1):c.680-12C>T	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +6 more	GBenign/Likely benign
Select item 1046974	NM_006516.4(SLC2A1):c.679+5G>A	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
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 139156	NM_006516.4(SLC2A1):c.276-9C>T	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +6 more	GBenign/Likely benign
Select item 406880	NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)	SLC2A1 (T63M)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 985526	NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)	SLC2A1 (R51H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 662199	NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)	SLC2A1 (N34S)	Single nucleotide variant (missense variant)	Dystonia 9 +6 more	GPathogenic