"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC52A3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476604	NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr)	SLC52A3 (D461Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 210029	NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)	SLC52A3 (F457L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 654493	NM_033409.4(SLC52A3):c.706G>A (p.Val236Met)	SLC52A3 (V236M)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GUncertain significance
Select item 210018	NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)	SLC52A3 (Y213*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 856021	NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)	SLC52A3 (I20L)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GUncertain significance
Select item 2683525	NM_033409.4(SLC52A3):c.32_33delinsCT (p.Val11Ala)	SLC52A3 (V11A)	Indel (missense variant)	not provided	GUncertain significance

ClinVar