"Ambry Genetics"[submitter] AND "ELAC2"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1504125	NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp)	ELAC2 (R811W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2524991	NM_018127.7(ELAC2):c.2419G>A (p.Glu807Lys)	ELAC2 (E767K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 408865	NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup)	ELAC2	Duplication (inframe_insertion)	ELAC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2078356	NM_018127.7(ELAC2):c.2365_2373dup (p.Arg791_Ala792insGlnValArg)	ELAC2	Duplication (inframe_insertion)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 408867	NM_018127.7(ELAC2):c.2372G>A (p.Arg791Gln)	ELAC2 (R791Q +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 5058	NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)	ELAC2 (R781H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2289444	NM_018127.7(ELAC2):c.2253+1G>C	ELAC2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 999041	NM_018127.7(ELAC2):c.2080G>A (p.Glu694Lys)	ELAC2 (E654K +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 848864	NM_018127.7(ELAC2):c.2024G>A (p.Arg675Gln)	ELAC2 (R674Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1501545	NM_018127.7(ELAC2):c.2023C>T (p.Arg675Trp)	ELAC2 (R674W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 488502	NM_018127.7(ELAC2):c.2009del (p.Cys670fs)	ELAC2 (C669fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1372105	NM_018127.7(ELAC2):c.2000C>T (p.Thr667Ile)	ELAC2 (T666I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264050	NM_018127.7(ELAC2):c.1979A>T (p.Lys660Ile)	ELAC2 (K659I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293862	NM_018127.7(ELAC2):c.1947T>G (p.Phe649Leu)	ELAC2 (F609L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 408864	NM_018127.7(ELAC2):c.1799A>G (p.His600Arg)	ELAC2 (H600R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1417911	NM_018127.7(ELAC2):c.1705T>G (p.Leu569Val)	ELAC2 (L569V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 474561	NM_018127.7(ELAC2):c.1645G>A (p.Ala549Thr)	ELAC2 (A549T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1907398	NM_018127.7(ELAC2):c.1639C>A (p.Leu547Met)	ELAC2 (L507M +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 1039547	NM_018127.7(ELAC2):c.1577G>A (p.Arg526His)	ELAC2 (R525H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 3088118	NM_018127.7(ELAC2):c.1565G>A (p.Gly522Glu)	ELAC2 (G482E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1961612	NM_018127.7(ELAC2):c.1507C>T (p.Leu503Phe)	ELAC2 (L503F +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 452048	NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)	ELAC2 (E482* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1060188	NM_018127.7(ELAC2):c.1428AAG[1] (p.Arg477del)	ELAC2 (R437del +2 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2320026	NM_018127.7(ELAC2):c.1403A>G (p.Gln468Arg)	ELAC2 (Q428R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1426817	NM_018127.7(ELAC2):c.1319C>T (p.Thr440Ile)	ELAC2 (T400I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1463049	NM_018127.7(ELAC2):c.1305G>T (p.Arg435Ser)	ELAC2 (R395S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1053520	NM_018127.7(ELAC2):c.1211G>A (p.Arg404His)	ELAC2 (R364H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1477060	NM_018127.7(ELAC2):c.1210C>T (p.Arg404Cys)	ELAC2 (R404C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 2237199	NM_018127.7(ELAC2):c.1043T>A (p.Val348Glu)	ELAC2 (V308E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088121	NM_018127.7(ELAC2):c.965A>G (p.Glu322Gly)	ELAC2 (E322G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231665	NM_018127.7(ELAC2):c.937G>A (p.Asp313Asn)	ELAC2 (D313N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231664	NM_018127.7(ELAC2):c.931T>A (p.Cys311Ser)	ELAC2 (C271S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364981	NM_018127.7(ELAC2):c.908G>T (p.Gly303Val)	ELAC2 (G303V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 2605954	NM_018127.7(ELAC2):c.898C>T (p.Pro300Ser)	ELAC2 (P260S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1464140	NM_018127.7(ELAC2):c.895C>A (p.Pro299Thr)	ELAC2 (P259T +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 2289589	NM_018127.7(ELAC2):c.870+4A>T	ELAC2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2227685	NM_018127.7(ELAC2):c.829G>A (p.Ala277Thr)	ELAC2 (A237T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484559	NM_018127.7(ELAC2):c.814G>A (p.Ala272Thr)	ELAC2 (A232T +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 1423746	NM_018127.7(ELAC2):c.721G>A (p.Val241Ile)	ELAC2 (V241I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3088120	NM_018127.7(ELAC2):c.652A>G (p.Asn218Asp)	ELAC2 (N218D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3002453	NM_018127.7(ELAC2):c.557A>G (p.His186Arg)	ELAC2 (H186R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 2259359	NM_018127.7(ELAC2):c.541T>G (p.Tyr181Asp)	ELAC2 (Y181D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 581028	NM_018127.7(ELAC2):c.512C>T (p.Pro171Leu)	ELAC2 (P171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1315618	NM_018127.7(ELAC2):c.511C>T (p.Pro171Ser)	ELAC2 (P171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2140558	NM_018127.7(ELAC2):c.472T>G (p.Leu158Val)	ELAC2 (L158V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 1929642	NM_018127.7(ELAC2):c.361T>G (p.Leu121Val)	ELAC2 (L121V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 1345785	NM_018127.7(ELAC2):c.319A>G (p.Asn107Asp)	ELAC2 (N107D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 408861	NM_018127.7(ELAC2):c.297-2_297-1delinsT	ELAC2	Indel (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2231844	NM_018127.7(ELAC2):c.143C>T (p.Pro48Leu)	ELAC2 (P48L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621271	NM_018127.7(ELAC2):c.125C>G (p.Thr42Arg)	ELAC2 (T42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219248	NM_018127.7(ELAC2):c.103G>A (p.Asp35Asn)	ELAC2 (D35N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403185	NM_018127.7(ELAC2):c.86G>T (p.Arg29Leu)	ELAC2 (R29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1369319	NM_018127.7(ELAC2):c.19C>G (p.Leu7Val)	ELAC2 (L7V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance

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Items: 53