"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC52A2"[ - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1586224	NM_001363118.2(SLC52A2):c.131-8C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GLikely benign
Select item 372996	NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)	SLC52A2 (A118D)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +4 more	GBenign/Likely benign
Select item 383583	NM_001363118.2(SLC52A2):c.359T>C (p.Val120Ala)	SLC52A2 (V120A)	Single nucleotide variant (missense variant +2 more)	SLC52A2-related disorder +3 more	GBenign/Likely benign
Select item 949492	NM_001363118.2(SLC52A2):c.433C>T (p.Arg145Trp)	SLC52A2 (R145W)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +3 more	GUncertain significance
Select item 257672	NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 705056	NM_001363118.2(SLC52A2):c.825C>T (p.Arg275=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	SLC52A2-related disorder +1 more	GLikely benign
Select item 2045985	NM_001363118.2(SLC52A2):c.844C>T (p.Leu282=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GLikely benign
Select item 579689	NM_001363118.2(SLC52A2):c.948G>A (p.Leu316=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 473198	NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)	SLC52A2 (V347M +1 more)	Single nucleotide variant (missense variant +1 more)	SLC52A2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3036525	NM_001363118.2(SLC52A2):c.1098G>T (p.Val366=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	SLC52A2-related disorder	GLikely benign
Select item 392275	NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 1155291	NM_001363118.2(SLC52A2):c.1126-8C>T	SLC52A2	Single nucleotide variant (intron variant)	SLC52A2-related disorder +1 more	GLikely benign
Select item 665859	NM_001363118.2(SLC52A2):c.1163A>G (p.Tyr388Cys)	SLC52A2 (Y224C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257671	NM_001363118.2(SLC52A2):c.*19C>T	SLC52A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign