"Ambry Genetics"[submitter] AND "SIRT3"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2244715	NM_012239.6(SIRT3):c.1154A>T (p.Asp385Val)	SIRT3 (D321V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521042	NM_012239.6(SIRT3):c.1108G>A (p.Val370Met)	SIRT3 (V146M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162520	NM_012239.6(SIRT3):c.1066C>T (p.Arg356Cys)	SIRT3 (R302C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318641	NM_012239.6(SIRT3):c.1012G>C (p.Val338Leu)	SIRT3 (V196L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359125	NM_012239.6(SIRT3):c.994G>A (p.Glu332Lys)	SIRT3 (E268K +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162533	NM_012239.6(SIRT3):c.956G>T (p.Gly319Val)	SIRT3 (G95V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522048	NM_012239.6(SIRT3):c.946C>T (p.Leu316Phe)	SIRT3 (L316F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318647	NM_012239.6(SIRT3):c.940C>G (p.Leu314Val)	SIRT3 (L250V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162531	NM_012239.6(SIRT3):c.889C>T (p.Pro297Ser)	SIRT3 (P25S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367357	NM_012239.6(SIRT3):c.868G>A (p.Asp290Asn)	SIRT3 (D148N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318646	NM_012239.6(SIRT3):c.832C>T (p.Pro278Ser)	SIRT3 (P54S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607969	NM_012239.6(SIRT3):c.828G>C (p.Arg276Ser)	SIRT3 (R276S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379510	NM_012239.6(SIRT3):c.806G>A (p.Arg269Gln)	SIRT3 (R127Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319367	NM_012239.6(SIRT3):c.710C>T (p.Ser237Leu)	SIRT3 (S156L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478094	NM_012239.6(SIRT3):c.691G>A (p.Asp231Asn)	SIRT3 (D231N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391264	NM_012239.6(SIRT3):c.665T>C (p.Leu222Pro)	SIRT3 (L158P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318643	NM_012239.6(SIRT3):c.621C>G (p.Asn207Lys)	SIRT3 (N126K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162529	NM_012239.6(SIRT3):c.521C>T (p.Pro174Leu)	SIRT3 (P110L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520916	NM_012239.6(SIRT3):c.488G>A (p.Gly163Asp)	SIRT3 (G99D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162528	NM_012239.6(SIRT3):c.479C>T (p.Pro160Leu)	SIRT3 (P79L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352870	NM_012239.6(SIRT3):c.479C>A (p.Pro160Gln)	SIRT3 (P79Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208130	NM_012239.6(SIRT3):c.452C>G (p.Pro151Arg)	SIRT3 (P9R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162527	NM_012239.6(SIRT3):c.451C>A (p.Pro151Thr)	SIRT3 (P70T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162526	NM_012239.6(SIRT3):c.436G>T (p.Ala146Ser)	SIRT3 (A146S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464894	NM_012239.6(SIRT3):c.422T>C (p.Val141Ala)	SIRT3 (V141A +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3162525	NM_012239.6(SIRT3):c.385G>A (p.Ala129Thr)	SIRT3 (A129T +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2264012	NM_012239.6(SIRT3):c.320G>T (p.Gly107Val)	SIRT3 (G107V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3318644	NM_012239.6(SIRT3):c.266G>A (p.Ser89Asn)	SIRT3 (S89N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513269	NM_012239.6(SIRT3):c.242G>A (p.Arg81Lys)	SIRT3 (R81K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162524	NM_012239.6(SIRT3):c.230G>C (p.Arg77Thr)	SIRT3 (R77T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365777	NM_012239.6(SIRT3):c.197C>G (p.Pro66Arg)	SIRT3 (P66R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162523	NM_012239.6(SIRT3):c.169C>T (p.Arg57Cys)	SIRT3 (R57C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162522	NM_012239.6(SIRT3):c.169C>G (p.Arg57Gly)	SIRT3 (R57G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494947	NM_012239.6(SIRT3):c.159C>A (p.Ser53Arg)	SIRT3 (S53R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537662	NM_012239.6(SIRT3):c.146G>T (p.Gly49Val)	SIRT3 (G49V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318645	NM_012239.6(SIRT3):c.136G>C (p.Val46Leu)	SIRT3 (V46L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3162521	NM_012239.6(SIRT3):c.133G>T (p.Asp45Tyr)	SIRT3 (D45Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3318642	NM_012239.6(SIRT3):c.127A>G (p.Arg43Gly)	SIRT3 (R43G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3162532	NM_012239.6(SIRT3):c.89C>T (p.Pro30Leu)	SIRT3 (P30L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3162530	NM_012239.6(SIRT3):c.5C>T (p.Ala2Val)	SIRT3 (A2V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance

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Items: 40