SIRT2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1269273	NM_012237.4(SIRT2):c.*426A>C	LOC130064385, RINL +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2218783	NM_012237.4(SIRT2):c.1135G>A (p.Glu379Lys)	SIRT2 (E342K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2229086	NM_012237.4(SIRT2):c.1118C>T (p.Pro373Leu)	SIRT2 (P336L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 745830	NM_012237.4(SIRT2):c.1074G>A (p.Ala358=)	SIRT2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3162513	NM_012237.4(SIRT2):c.1061C>G (p.Ala354Gly)	SIRT2 (A354G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2541226	NM_012237.4(SIRT2):c.1036C>T (p.Arg346Trp)	SIRT2 (R309W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 712248	NM_012237.4(SIRT2):c.1030C>A (p.Leu344Ile)	SIRT2 (L307I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2315228	NM_012237.4(SIRT2):c.964G>A (p.Gly322Ser)	SIRT2 (G322S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162519	NM_012237.4(SIRT2):c.923A>T (p.Asp308Val)	SIRT2 (D308V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306254	NM_012237.4(SIRT2):c.880G>T (p.Asp294Tyr)	SIRT2 (D294Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528305	NM_012237.4(SIRT2):c.878C>T (p.Ser293Leu)	SIRT2 (S256L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517516	NM_012237.4(SIRT2):c.848T>C (p.Leu283Pro)	SIRT2 (L246P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162518	NM_012237.4(SIRT2):c.741G>A (p.Met247Ile)	SIRT2 (M210I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400915	NM_012237.4(SIRT2):c.725G>A (p.Arg242His)	SIRT2 (R205H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162517	NM_012237.4(SIRT2):c.722C>T (p.Ala241Val)	SIRT2 (A204V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485880	NM_012237.4(SIRT2):c.707G>A (p.Gly236Asp)	SIRT2 (G199D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162516	NM_012237.4(SIRT2):c.697G>A (p.Val233Ile)	SIRT2 (V196I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162515	NM_012237.4(SIRT2):c.694A>G (p.Ile232Val)	SIRT2 (I195V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460167	NM_012237.4(SIRT2):c.653C>T (p.Thr218Met)	SIRT2 (T218M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781449	NM_012237.4(SIRT2):c.592G>A (p.Ala198Thr)	SIRT2 (A161T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2250112	NM_012237.4(SIRT2):c.553G>C (p.Glu185Gln)	SIRT2 (E148Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162514	NM_012237.4(SIRT2):c.529G>A (p.Gly177Arg)	SIRT2 (G140R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213946	NM_012237.4(SIRT2):c.521G>A (p.Arg174Gln)	SIRT2 (R137Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784716	NM_012237.4(SIRT2):c.458G>A (p.Arg153His)	SIRT2 (R116H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2596963	NM_012237.4(SIRT2):c.419C>T (p.Pro140Leu)	SIRT2 (P140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 757121	NM_012237.4(SIRT2):c.396C>T (p.Phe132=)	SIRT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2395841	NM_012237.4(SIRT2):c.319C>A (p.Leu107Ile)	SIRT2 (L70I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542114	NM_012237.4(SIRT2):c.304G>A (p.Gly102Ser)	SIRT2 (G102S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267955	NM_012237.4(SIRT2):c.289C>T (p.Arg97Cys)	SIRT2 (R97C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619854	NM_012237.4(SIRT2):c.272C>G (p.Ala91Gly)	SIRT2 (A54G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265832	NM_012237.4(SIRT2):c.259A>T (p.Ile87Phe)	SIRT2 (I50F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540729	NM_012237.4(SIRT2):c.224G>A (p.Arg75His)	SIRT2 (R75H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383061	NM_012237.4(SIRT2):c.206G>A (p.Arg69Gln)	SIRT2 (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225080	NM_012237.4(SIRT2):c.205C>T (p.Arg69Trp)	SIRT2 (R32W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493641	NM_012237.4(SIRT2):c.170G>A (p.Arg57His)	SIRT2 (R20H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775117	NM_012237.4(SIRT2):c.132A>T (p.Leu44Phe)	SIRT2 (L44F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2476851	NM_012237.4(SIRT2):c.91G>T (p.Ala31Ser)	SIRT2 (A31S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	ACP7, ACTN4 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395304	GRCh37/hg19 19q13.2(chr19:39360343-39369195)x3	RINL, SIRT2	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 48