"Ambry Genetics"[submitter] AND "GOT2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2560162	NM_002080.4(GOT2):c.1244C>G (p.Ser415Cys)	GOT2 (S372C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281991	NM_002080.4(GOT2):c.1131A>C (p.Gln377His)	GOT2 (Q377H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1419631	NM_002080.4(GOT2):c.1115A>G (p.Gln372Arg)	GOT2 (Q372R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2593725	NM_002080.4(GOT2):c.1049G>A (p.Arg350His)	GOT2 (R350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335077	NM_002080.4(GOT2):c.988A>G (p.Ile330Val)	GOT2 (I287V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1368160	NM_002080.4(GOT2):c.974G>A (p.Arg325Gln)	GOT2 (R282Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3101033	NM_002080.4(GOT2):c.803G>A (p.Gly268Asp)	GOT2 (G225D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281994	NM_002080.4(GOT2):c.795C>G (p.Ile265Met)	GOT2 (I222M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281993	NM_002080.4(GOT2):c.689C>T (p.Ala230Val)	GOT2, LOC126862363 (A230V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321606	NM_002080.4(GOT2):c.670G>A (p.Glu224Lys)	GOT2, LOC126862363 (E224K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332708	NM_002080.4(GOT2):c.650C>A (p.Thr217Lys)	GOT2, LOC126862363 (T174K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268900	NM_002080.4(GOT2):c.602T>C (p.Ile201Thr)	GOT2, LOC126862363 (I201T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383391	NM_002080.4(GOT2):c.584T>C (p.Val195Ala)	GOT2, LOC126862363 (V195A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281992	NM_002080.4(GOT2):c.478C>T (p.Pro160Ser)	GOT2, LOC126862363 (P117S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210701	NM_002080.4(GOT2):c.274T>G (p.Leu92Val)	GOT2 (L92V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1436360	NM_002080.4(GOT2):c.226G>A (p.Val76Ile)	GOT2 (V76I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2531475	NM_002080.4(GOT2):c.55C>T (p.Pro19Ser)	GOT2 (P19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance