"Ambry Genetics"[submitter] AND "SIRT1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2534561	NM_012238.5(SIRT1):c.53C>T (p.Ala18Val)	LOC107832851, SIRT1 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534562	NM_012238.5(SIRT1):c.56G>C (p.Gly19Ala)	LOC107832851, SIRT1 (G19A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389857	NM_012238.5(SIRT1):c.59C>A (p.Ala20Asp)	LOC107832851, SIRT1 (A20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363948	NM_012238.5(SIRT1):c.59C>G (p.Ala20Gly)	LOC107832851, SIRT1 (A20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381709	NM_012238.5(SIRT1):c.62A>G (p.Asp21Gly)	LOC107832851, SIRT1 (D21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363404	NM_012238.5(SIRT1):c.76T>G (p.Ser26Ala)	LOC107832851, SIRT1 (S26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219446	NM_012238.5(SIRT1):c.88G>A (p.Gly30Arg)	LOC107832851, SIRT1 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376693	NM_012238.5(SIRT1):c.131T>A (p.Leu44His)	LOC107832851, SIRT1 (L44H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3162501	NM_012238.5(SIRT1):c.142C>T (p.Pro48Ser)	LOC107832851, SIRT1 (P48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162504	NM_012238.5(SIRT1):c.188C>T (p.Ala63Val)	LOC107832851, SIRT1 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469659	NM_012238.5(SIRT1):c.203C>G (p.Pro68Arg)	LOC107832851, SIRT1 (P68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1499172	NM_012238.5(SIRT1):c.209C>T (p.Ala70Val)	LOC107832851, SIRT1 (A70V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3162508	NM_012238.5(SIRT1):c.300A>C (p.Glu100Asp)	LOC107832851, SIRT1 (E100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246353	NM_012238.5(SIRT1):c.308A>G (p.Asn103Ser)	LOC107832851, SIRT1 (N103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162510	NM_012238.5(SIRT1):c.436C>G (p.Leu146Val)	SIRT1 (L146V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1421949	NM_012238.5(SIRT1):c.446G>A (p.Gly149Asp)	SIRT1 (G149D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2411729	NM_012238.5(SIRT1):c.475T>C (p.Ser159Pro)	SIRT1 (S159P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461321	NM_012238.5(SIRT1):c.535A>G (p.Arg179Gly)	SIRT1 (R179G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3162511	NM_012238.5(SIRT1):c.578T>C (p.Met193Thr)	SIRT1 (M193T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550943	NM_012238.5(SIRT1):c.580A>G (p.Ile194Val)	SIRT1 (I194V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2550650	NM_012238.5(SIRT1):c.689A>T (p.Glu230Val)	SIRT1 (E230V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3162512	NM_012238.5(SIRT1):c.896T>C (p.Ile299Thr)	SIRT1 (I4T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162499	NM_012238.5(SIRT1):c.1195C>T (p.Pro399Ser)	SIRT1 (P399S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526328	NM_012238.5(SIRT1):c.1255C>A (p.Pro419Thr)	SIRT1 (P116T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162500	NM_012238.5(SIRT1):c.1274C>G (p.Ala425Gly)	SIRT1 (A122G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338001	NM_012238.5(SIRT1):c.1289A>G (p.Lys430Arg)	SIRT1 (K127R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2459967	NM_012238.5(SIRT1):c.1417C>T (p.His473Tyr)	SIRT1 (H473Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2612669	NM_012238.5(SIRT1):c.1510C>A (p.Pro504Thr)	SIRT1 (P201T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162502	NM_012238.5(SIRT1):c.1617T>G (p.Ser539Arg)	SIRT1 (S236R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162503	NM_012238.5(SIRT1):c.1760A>T (p.Asn587Ile)	SIRT1 (N284I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318636	NM_012238.5(SIRT1):c.1958A>G (p.His653Arg)	SIRT1 (H358R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369933	NM_012238.5(SIRT1):c.1993G>A (p.Val665Ile)	SIRT1 (V370I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162505	NM_012238.5(SIRT1):c.2065A>T (p.Met689Leu)	SIRT1 (M394L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162506	NM_012238.5(SIRT1):c.2098A>C (p.Asn700His)	SIRT1 (N397H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162507	NM_012238.5(SIRT1):c.2158G>A (p.Asp720Asn)	SIRT1 (D417N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 35