14929[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
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 2816576	NM_012238.5(SIRT1):c.11A>G (p.Glu4Gly)	LOC107832851, SIRT1 (E4G)	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 2980946	NM_012238.5(SIRT1):c.23C>T (p.Ala8Val)	LOC107832851, SIRT1 (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787077	NM_012238.5(SIRT1):c.24C>A (p.Ala8=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1524941	NM_012238.5(SIRT1):c.40T>C (p.Ser14Pro)	LOC107832851, SIRT1 (S14P)	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 2978096	NM_012238.5(SIRT1):c.44C>T (p.Pro15Leu)	SIRT1, LOC107832851 (P15L)	Single nucleotide variant (missense variant)	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 1622951	NM_012238.5(SIRT1):c.48G>A (p.Ser16=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 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 2720095	NM_012238.5(SIRT1):c.69G>A (p.Glu23=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2082562	NM_012238.5(SIRT1):c.77C>T (p.Ser26Leu)	LOC107832851, SIRT1 (S26L)	Single nucleotide variant (missense variant)	not provided	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 2885484	NM_012238.5(SIRT1):c.109C>G (p.Pro37Ala)	LOC107832851, SIRT1 (P37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541459	NM_012238.5(SIRT1):c.110C>T (p.Pro37Leu)	LOC107832851, SIRT1 (P37L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2722379	NM_012238.5(SIRT1):c.143C>T (p.Pro48Leu)	LOC107832851, SIRT1 (P48L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640519	NM_012238.5(SIRT1):c.183_206dup (p.Ala72_Ala73insArgGlyCysProGlyAlaAlaAla)	LOC107832851, SIRT1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1467163	NM_012238.5(SIRT1):c.182C>G (p.Pro61Arg)	LOC107832851, SIRT1 (P61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047588	NM_012238.5(SIRT1):c.192_215del (p.Arg65_Ala72del)	LOC107832851, SIRT1	Deletion (inframe_deletion)	not provided	GBenign
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 2042819	NM_012238.5(SIRT1):c.196G>T (p.Gly66Cys)	LOC107832851, SIRT1 (G66C)	Single nucleotide variant (missense variant)	not provided	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 1572053	NM_012238.5(SIRT1):c.204G>A (p.Pro68=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1377998	NM_012238.5(SIRT1):c.208GCG[6] (p.Ala74dup)	LOC107832851, SIRT1	Microsatellite (inframe_insertion)	not provided	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 3049203	NM_012238.5(SIRT1):c.210G>A (p.Ala70=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	SIRT1-related disorder	GLikely benign
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 2986687	NM_012238.5(SIRT1):c.219G>T (p.Ala73=)	LOC107832851, SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218700	NM_012238.5(SIRT1):c.233A>G (p.Glu78Gly)	LOC107832851, SIRT1 (E78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2026285	NM_012238.5(SIRT1):c.236C>T (p.Ala79Val)	LOC107832851, SIRT1 (A79V)	Single nucleotide variant (missense variant)	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 1559401	NM_012238.5(SIRT1):c.290C>A (p.Ala97Glu)	LOC107832851, SIRT1 (A97E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2076078	NM_012238.5(SIRT1):c.319C>T (p.Leu107=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48639	NM_012238.5(SIRT1):c.320T>C (p.Leu107Pro)	SIRT1 (L107P)	Single nucleotide variant (missense variant)	Variant of unknown significance	GUncertain significance
Select item 1657042	NM_012238.5(SIRT1):c.341C>A (p.Pro114Gln)	SIRT1 (P114Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2970693	NM_012238.5(SIRT1):c.357C>T (p.Asn119=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394849	NM_012238.5(SIRT1):c.372CGA[5] (p.Asp127dup)	SIRT1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2730801	NM_012238.5(SIRT1):c.372CGA[2] (p.Asp126_Asp127del)	SIRT1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1493319	NM_012238.5(SIRT1):c.392A>G (p.Glu131Gly)	SIRT1 (E131G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441459	NM_012238.5(SIRT1):c.403GCG[6] (p.Ala139dup)	SIRT1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2717509	NM_012238.5(SIRT1):c.403GCG[4] (p.Ala139del)	SIRT1 (A139del)	Microsatellite (inframe_deletion)	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 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 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 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 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 760832	NM_012238.5(SIRT1):c.509A>G (p.His170Arg)	SIRT1 (H170R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 1915072	NM_012238.5(SIRT1):c.548-11C>T	SIRT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909021	NM_012238.5(SIRT1):c.548-10C>G	SIRT1	Single nucleotide variant (intron variant)	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 709788	NM_012238.5(SIRT1):c.561T>C (p.Phe187=)	SIRT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1941847	NM_012238.5(SIRT1):c.631C>A (p.Pro211Thr)	SIRT1 (P211T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934572	NM_012238.5(SIRT1):c.657A>T (p.Thr219=)	SIRT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 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 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 1445012	NM_012238.5(SIRT1):c.841G>A (p.Ala281Thr)	SIRT1 (A281T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 1628824	NM_012238.5(SIRT1):c.942+7T>C	SIRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2418531	NM_012238.5(SIRT1):c.960A>G (p.Gln320=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987502	NM_012238.5(SIRT1):c.984A>G (p.Lys328=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561038	NM_012238.5(SIRT1):c.994T>C (p.Leu332=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1476066	NM_012238.5(SIRT1):c.998C>T (p.Ser333Leu)	SIRT1 (S30L +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 1915359	NM_012238.5(SIRT1):c.1061C>T (p.Ala354Val)	SIRT1 (A354V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045614	NM_012238.5(SIRT1):c.1062G>A (p.Ala354=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1479108	NM_012238.5(SIRT1):c.1071A>T (p.Gln357His)	SIRT1 (Q54H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843975	NM_012238.5(SIRT1):c.1090+12T>G	SIRT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655913	NM_012238.5(SIRT1):c.1091-20T>C	SIRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2047835	NM_012238.5(SIRT1):c.1110T>C (p.Ser370=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706038	NM_012238.5(SIRT1):c.1122dup (p.Lys375Ter)	SIRT1 (K375* +2 more)	Duplication (nonsense)	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 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 2069396	NM_012238.5(SIRT1):c.1209G>A (p.Pro403=)	SIRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2526328	NM_012238.5(SIRT1):c.1255C>A (p.Pro419Thr)	SIRT1 (P116T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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