C4551966[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031052	NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)	SLC2A1 (F450I)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +5 more	GUncertain significance
Select item 207209	NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)	SLC2A1 (V376M)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +5 more	GUncertain significance
Select item 207196	NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)	SLC2A1 (R330*)	Single nucleotide variant (nonsense)	Hereditary cryohydrocytosis with reduced stomatin +6 more	GPathogenic
Select item 665484	NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)	SLC2A1 (R269H)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +5 more	GUncertain significance
Select item 202196	NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)	SLC2A1 (Q242*)	Single nucleotide variant (nonsense)	Encephalopathy due to GLUT1 deficiency +2 more	GPathogenic
Select item 2582491	NM_006516.4(SLC2A1):c.679+3A>G	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency	GUncertain significance
Select item 16118	NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	SLC2A1 (R126C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 207225	NM_006516.4(SLC2A1):c.19-2A>G	SLC2A1	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic

ClinVar