"Baylor Genetics"[submitter] AND "SLC52A2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549670	NM_001363118.2(SLC52A2):c.-110-1G>A	SLC52A2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 569976	NM_001363118.2(SLC52A2):c.424C>T (p.Arg142Cys)	SLC52A2 (R142C)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 39577	NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)	SLC52A2 (L339P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 210042	NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu)	SLC52A2 (P363L +1 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GConflicting classifications of pathogenicity
Select item 839705	NM_001363118.2(SLC52A2):c.1225G>A (p.Gly409Ser)	SLC52A2 (G245S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 540430	NM_001363118.2(SLC52A2):c.1267A>G (p.Met423Val)	SLC52A2 (M423V +1 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance

ClinVar