ClinVar for Gene (Select 23411) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3162508	NM_012238.5(SIRT1):c.300A>C (p.Glu100Asp)	LOC107832851, SIRT1 (E100D)	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
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 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 3162504	NM_012238.5(SIRT1):c.188C>T (p.Ala63Val)	LOC107832851, SIRT1 (A63V)	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 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 3162501	NM_012238.5(SIRT1):c.142C>T (p.Pro48Ser)	LOC107832851, SIRT1 (P48S)	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 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 3049203	NM_012238.5(SIRT1):c.210G>A (p.Ala70=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	SIRT1-related disorder	GLikely benign
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 3013853	NM_012238.5(SIRT1):c.1906C>T (p.Arg636Trp)	SIRT1 (R341W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012455	NM_012238.5(SIRT1):c.1125A>C (p.Lys375Asn)	SIRT1 (K72N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998807	NM_012238.5(SIRT1):c.1969G>A (p.Val657Ile)	SIRT1 (V362I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998504	NM_012238.5(SIRT1):c.2169T>A (p.Asp723Glu)	SIRT1 (D428E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993330	NM_012238.5(SIRT1):c.353A>G (p.Asp118Gly)	SIRT1 (D118G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988018	NM_012238.5(SIRT1):c.1231A>G (p.Ile411Val)	SIRT1 (I116V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987937	NM_012238.5(SIRT1):c.2183A>C (p.Asn728Thr)	SIRT1 (N433T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987502	NM_012238.5(SIRT1):c.984A>G (p.Lys328=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986687	NM_012238.5(SIRT1):c.219G>T (p.Ala73=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980946	NM_012238.5(SIRT1):c.23C>T (p.Ala8Val)	LOC107832851, SIRT1 (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978096	NM_012238.5(SIRT1):c.44C>T (p.Pro15Leu)	LOC107832851, SIRT1 (P15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970693	NM_012238.5(SIRT1):c.357C>T (p.Asn119=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968614	NM_012238.5(SIRT1):c.756G>A (p.Glu252=)	SIRT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2966506	NM_012238.5(SIRT1):c.557C>G (p.Thr186Ser)	SIRT1 (T186S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2966385	NM_012238.5(SIRT1):c.246GGC[5] (p.Ala86_Gly87insAla)	LOC107832851, SIRT1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2960662	NM_012238.5(SIRT1):c.1500T>G (p.Leu500=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960561	NM_012238.5(SIRT1):c.1915+16G>A	SIRT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957038	NM_012238.5(SIRT1):c.492GGA[1] (p.Glu165del)	SIRT1 (E165del)	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2915751	NM_012238.5(SIRT1):c.2099A>G (p.Asn700Ser)	SIRT1 (N405S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895430	NM_012238.5(SIRT1):c.2063C>A (p.Pro688His)	SIRT1 (P385H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892301	NM_012238.5(SIRT1):c.405G>A (p.Ala135=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885484	NM_012238.5(SIRT1):c.109C>G (p.Pro37Ala)	LOC107832851, SIRT1 (P37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883418	NM_012238.5(SIRT1):c.735T>A (p.Asp245Glu)	SIRT1 (D245E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2882237	NM_012238.5(SIRT1):c.1497A>C (p.Lys499Asn)	SIRT1 (K204N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863417	NM_012238.5(SIRT1):c.15G>A (p.Ala5=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843975	NM_012238.5(SIRT1):c.1090+12T>G	SIRT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816576	NM_012238.5(SIRT1):c.11A>G (p.Glu4Gly)	LOC107832851, SIRT1 (E4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802620	NM_012238.5(SIRT1):c.26T>C (p.Leu9Pro)	LOC107832851, SIRT1 (L9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801715	NM_012238.5(SIRT1):c.42C>T (p.Ser14=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796730	NM_012238.5(SIRT1):c.1605AGA[1] (p.Glu536del)	SIRT1 (E536del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2782193	NM_012238.5(SIRT1):c.215C>T (p.Ala72Val)	LOC107832851, SIRT1 (A72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780161	NM_012238.5(SIRT1):c.543G>A (p.Arg181=)	SIRT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2730801	NM_012238.5(SIRT1):c.372CGA[2] (p.Asp126_Asp127del)	SIRT1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2722379	NM_012238.5(SIRT1):c.143C>T (p.Pro48Leu)	LOC107832851, SIRT1 (P48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720095	NM_012238.5(SIRT1):c.69G>A (p.Glu23=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719327	NM_012238.5(SIRT1):c.1907G>A (p.Arg636Gln)	SIRT1 (R636Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717509	NM_012238.5(SIRT1):c.403GCG[4] (p.Ala139del)	SIRT1 (A139del)	Microsatellite (inframe_deletion)	SIRT1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2706038	NM_012238.5(SIRT1):c.1122dup (p.Lys375Ter)	SIRT1 (K375* +2 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2705476	NM_012238.5(SIRT1):c.438_440del (p.Leu147del)	SIRT1 (L147del)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2694883	NM_012238.5(SIRT1):c.47C>A (p.Ser16Ter)	LOC107832851, SIRT1 (S16*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640520	NM_012238.5(SIRT1):c.207T>G (p.Gly69=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640519	NM_012238.5(SIRT1):c.183_206dup (p.Ala72_Ala73insArgGlyCysProGlyAlaAlaAla)	LOC107832851, SIRT1	Duplication (inframe_insertion)	not provided	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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2534562	NM_012238.5(SIRT1):c.56G>C (p.Gly19Ala)	LOC107832851, SIRT1 (G19A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2469659	NM_012238.5(SIRT1):c.203C>G (p.Pro68Arg)	LOC107832851, SIRT1 (P68R)	Single nucleotide variant (missense variant)	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 2459967	NM_012238.5(SIRT1):c.1417C>T (p.His473Tyr)	SIRT1 (H473Y +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2418531	NM_012238.5(SIRT1):c.960A>G (p.Gln320=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2389857	NM_012238.5(SIRT1):c.59C>A (p.Ala20Asp)	LOC107832851, SIRT1 (A20D)	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 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 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 2363948	NM_012238.5(SIRT1):c.59C>G (p.Ala20Gly)	LOC107832851, SIRT1 (A20G)	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 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 2246353	NM_012238.5(SIRT1):c.308A>G (p.Asn103Ser)	LOC107832851, SIRT1 (N103S)	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 2182216	NM_012238.5(SIRT1):c.2109A>C (p.Glu703Asp)	SIRT1 (E408D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163174	NM_012238.5(SIRT1):c.1022G>A (p.Arg341His)	SIRT1 (R341H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2157235	NM_012238.5(SIRT1):c.1916-9G>T	SIRT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2155907	NM_012238.5(SIRT1):c.2066T>G (p.Met689Arg)	SIRT1 (M386R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117996	NM_012238.5(SIRT1):c.2206G>A (p.Glu736Lys)	SIRT1 (E736K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082562	NM_012238.5(SIRT1):c.77C>T (p.Ser26Leu)	LOC107832851, SIRT1 (S26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076078	NM_012238.5(SIRT1):c.319C>T (p.Leu107=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069396	NM_012238.5(SIRT1):c.1209G>A (p.Pro403=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2066832	NM_012238.5(SIRT1):c.1784T>C (p.Met595Thr)	SIRT1 (M292T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2058577	NM_012238.5(SIRT1):c.2191A>G (p.Ile731Val)	SIRT1 (I428V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2048268	NM_012238.5(SIRT1):c.1452C>T (p.Val484=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047835	NM_012238.5(SIRT1):c.1110T>C (p.Ser370=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047588	NM_012238.5(SIRT1):c.192_215del (p.Arg65_Ala72del)	SIRT1, LOC107832851	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 2045818	NM_012238.5(SIRT1):c.6G>A (p.Ala2=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045614	NM_012238.5(SIRT1):c.1062G>A (p.Ala354=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2042819	NM_012238.5(SIRT1):c.196G>T (p.Gly66Cys)	LOC107832851, SIRT1 (G66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032992	NM_012238.5(SIRT1):c.1410T>C (p.Pro470=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030842	NM_012238.5(SIRT1):c.1900A>G (p.Ser634Gly)	SIRT1 (S634G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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