SIRT3[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 161085	GRCh38/hg38 11p15.5(chr11:196966-244236)x1	BET1L, CIMAP1A +8 more	Copy number loss	See cases	GUncertain significance
Select item 144144	GRCh38/hg38 11p15.5(chr11:196966-244236)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 57951	GRCh38/hg38 11p15.5(chr11:196966-251588)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GUncertain significance
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 151347	GRCh38/hg38 11p15.5(chr11:200222-237805)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
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 3056505	NM_012239.6(SIRT3):c.1104C>T (p.His368=)	SIRT3	Single nucleotide variant (synonymous variant +2 more)	SIRT3-related disorder	GBenign
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 3044843	NM_012239.6(SIRT3):c.853G>A (p.Gly285Ser)	SIRT3 (G13S +5 more)	Single nucleotide variant (missense variant +2 more)	SIRT3-related disorder	GLikely benign
Select item 3034628	NM_012239.6(SIRT3):c.843G>A (p.Pro281=)	SIRT3	Single nucleotide variant (synonymous variant +2 more)	SIRT3-related disorder	GBenign
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 782538	NM_012239.6(SIRT3):c.785C>A (p.Pro262His)	SIRT3 (P181H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 3060261	NM_012239.6(SIRT3):c.622G>A (p.Val208Ile)	SIRT3 (V127I +3 more)	Single nucleotide variant (missense variant +2 more)	SIRT3-related disorder	GBenign
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 3036236	NM_012239.6(SIRT3):c.483G>T (p.Gly161=)	SIRT3	Single nucleotide variant (synonymous variant +2 more)	SIRT3-related disorder	GLikely benign
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 3060621	NM_012239.6(SIRT3):c.477G>T (p.Ser159=)	SIRT3	Single nucleotide variant (synonymous variant +2 more)	SIRT3-related disorder	GBenign
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 3057000	NM_012239.6(SIRT3):c.238C>T (p.Arg80Trp)	SIRT3 (R80W)	Single nucleotide variant (missense variant +2 more)	SIRT3-related disorder	GBenign
Select item 708797	NM_012239.6(SIRT3):c.235T>C (p.Phe79Leu)	SIRT3 (F79L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 3034122	NM_012239.6(SIRT3):c.33C>T (p.Ala11=)	SIRT3	Single nucleotide variant (5 prime UTR variant +3 more)	SIRT3-related disorder	GLikely benign
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
Select item 3038327	NM_012239.6(SIRT3):c.-9G>C	SIRT3	Single nucleotide variant (5 prime UTR variant +2 more)	SIRT3-related disorder	GBenign
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1410009	NC_000011.9:g.(?_216698)_(299504_?)dup	PSMD13, IFITM5 +3 more	Duplication	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688993	GRCh37/hg19 11p15.5(chr11:210898-461373)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685591	GRCh37/hg19 11p15.5(chr11:230615-253390)x1	PSMD13, SIRT3	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 624552	GRCh37/hg19 11p15.5(chr11:210300-487062)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 443493	GRCh37/hg19 11p15.5(chr11:230615-253390)x1	PSMD13, SIRT3	Copy number loss	See cases	GUncertain significance
Select item 443411	GRCh37/hg19 11p15.5(chr11:230615-378405)x1	B4GALNT4, IFITM1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 393875	GRCh37/hg19 11p15.5(chr11:193842-475940)x3	ANO9, B4GALNT4 +15 more	Copy number gain	See cases	GLikely benign
Select item 253707	GRCh37/hg19 11p15.5(chr11:193142-299384)x3	RIC8A, PGGHG +7 more	Copy number gain	See cases	GUncertain significance

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Items: 90