ClinVar for Gene (Select 23408) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162546	NM_012241.5(SIRT5):c.89G>T (p.Cys30Phe)	SIRT5 (C30F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162545	NM_012241.5(SIRT5):c.889C>G (p.Leu297Val)	SIRT5 (L258V +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3162544	NM_012241.5(SIRT5):c.827C>T (p.Thr276Met)	SIRT5 (T168M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3162543	NM_012241.5(SIRT5):c.650G>A (p.Arg217Gln)	SIRT5 (R217Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162542	NM_012241.5(SIRT5):c.445G>A (p.Ala149Thr)	SIRT5 (A41T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162541	NM_012241.5(SIRT5):c.427G>A (p.Asp143Asn)	SIRT5 (D104N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162540	NM_012241.5(SIRT5):c.380G>A (p.Arg127Gln)	SIRT5 (R127Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162539	NM_012241.5(SIRT5):c.367G>C (p.Glu123Gln)	SIRT5 (E123Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162538	NM_012241.5(SIRT5):c.305A>G (p.Tyr102Cys)	SIRT5 (Y102C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 3053909	NM_012241.5(SIRT5):c.884C>T (p.Thr295Met)	SIRT5 (R254* +4 more)	Single nucleotide variant (missense variant +3 more)	SIRT5-related condition	GLikely benign
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2569737	NM_012241.5(SIRT5):c.440G>A (p.Arg147His)	SIRT5 (R39H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2400045	NM_012241.5(SIRT5):c.314G>A (p.Arg105Gln)	SIRT5 (R66Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 2372480	NM_012241.5(SIRT5):c.202C>T (p.Pro68Ser)	SIRT5 (P68S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GLikely benign
Select item 2293977	NM_012241.5(SIRT5):c.524A>G (p.Asn175Ser)	SIRT5 (N136S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2285340	NM_012241.5(SIRT5):c.439C>A (p.Arg147Ser)	SIRT5 (R147S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	CD83, DTNBP1 +9 more	Copy number loss	not specified	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1511468	NC_000006.11:g.(?_12290863)_(13612097_?)dup	SIRT5, TBC1D7 +3 more	Duplication	not provided	GUncertain significance
Select item 1226558	NC_000006.12:g.13574110G>A	SIRT5	Single nucleotide variant	not provided	GBenign
Select item 973211	NM_012241.5(SIRT5):c.857+3529A>T	SIRT5 (H287L)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	LOC129995520, LOC129995521 +610 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC132089500, LOC132090749 +641 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	LOC129389446, LOC129389447 +617 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ELOVL2-AS1, ERVFRD-1 +154 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995714, LOC129995715 +777 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 59498	GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3	GFOD1, GFOD1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 55