"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC2A10"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380663	NM_030777.4(SLC2A10):c.-2C>T	SLC2A10	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 409250	NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)	SLC2A10 (V108I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 213748	NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)	SLC2A10 (A283D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2032248	NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)	SLC2A10 (R388W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213737	NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)	SLC2A10 (A457V)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +3 more	GConflicting classifications of pathogenicity
Select item 213743	NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val)	SLC2A10 (A539V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar