"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC52A2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653493	NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser)	SLC52A2 (T5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1308493	NM_001363118.2(SLC52A2):c.23G>A (p.Arg8His)	SLC52A2 (R8H)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 581927	NM_001363118.2(SLC52A2):c.83A>G (p.Asn28Ser)	SLC52A2 (N28S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 540427	NM_001363118.2(SLC52A2):c.425G>A (p.Arg142His)	SLC52A2 (R142H)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 257672	NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +2 more	GBenign
Select item 1163310	NM_001363118.2(SLC52A2):c.998G>A (p.Cys333Tyr)	SLC52A2 (C169Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 953633	NM_001363118.2(SLC52A2):c.1025T>C (p.Leu342Pro)	SLC52A2 (L178P +1 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 385698	NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1058477	NM_001363118.2(SLC52A2):c.1125G>A (p.Val375=)	SLC52A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 577810	NM_001363118.2(SLC52A2):c.1307G>A (p.Arg436Lys)	SLC52A2 (R436K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance