"Ambry Genetics"[submitter] AND "SIRT5"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2372480	NM_012241.5(SIRT5):c.202C>T (p.Pro68Ser)	SIRT5 (P68S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211577	NM_012241.5(SIRT5):c.203C>T (p.Pro68Leu)	SIRT5 (P68L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2380899	NM_012241.5(SIRT5):c.290G>A (p.Arg97Gln)	SIRT5 (R58Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2400045	NM_012241.5(SIRT5):c.314G>A (p.Arg105Gln)	SIRT5 (R66Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2556417	NM_012241.5(SIRT5):c.382C>G (p.Leu128Val)	SIRT5 (L89V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336683	NM_012241.5(SIRT5):c.406G>A (p.Val136Met)	SIRT5 (V136M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2285340	NM_012241.5(SIRT5):c.439C>A (p.Arg147Ser)	SIRT5 (R147S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2569737	NM_012241.5(SIRT5):c.440G>A (p.Arg147His)	SIRT5 (R39H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2513280	NM_012241.5(SIRT5):c.511G>A (p.Val171Ile)	SIRT5 (V171I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2392557	NM_012241.5(SIRT5):c.514G>A (p.Val172Met)	SIRT5 (V133M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2293977	NM_012241.5(SIRT5):c.524A>G (p.Asn175Ser)	SIRT5 (N136S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292281	NM_012241.5(SIRT5):c.530A>G (p.Lys177Arg)	SIRT5 (K69R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230593	NM_012241.5(SIRT5):c.622G>A (p.Glu208Lys)	SIRT5 (E190K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2475734	NM_012241.5(SIRT5):c.653C>G (p.Pro218Arg)	SIRT5 (P110R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2518328	NM_012241.5(SIRT5):c.689C>T (p.Ala230Val)	SIRT5 (A122V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2494891	NM_012241.5(SIRT5):c.748A>G (p.Thr250Ala)	SIRT5 (H179R +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2478604	NM_012241.5(SIRT5):c.902T>C (p.Leu301Pro)	SIRT5 (L283P +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance