C0796274[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262230	NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)	SLC52A3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1185470	NM_033409.4(SLC52A3):c.1197+108C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 1185471	NM_033409.4(SLC52A3):c.1197+106A>G	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 1185472	NM_033409.4(SLC52A3):c.1073+92T>C	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 262238	NM_033409.4(SLC52A3):c.765C>T (p.Leu255=)	SLC52A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1185522	NM_033409.4(SLC52A3):c.568-200T>C	SLC52A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 262233	NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)	SLC52A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262228	NM_033409.4(SLC52A3):c.-14_-6del	SLC52A3	Deletion (5 prime UTR variant)	Brown-Vialetto-van Laere syndrome 1 +3 more	GBenign

ClinVar