ClinVar for MedGen (Select 815856) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3767199	NM_018127.7(ELAC2):c.1943C>T (p.Ala648Val)	ELAC2 (A608V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 3730823	NM_018127.7(ELAC2):c.1637_1638del (p.His546fs)	ELAC2 (H506fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3730783	NM_018127.7(ELAC2):c.1659+7G>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3730459	NM_018127.7(ELAC2):c.1660-18C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3730372	NM_018127.7(ELAC2):c.1311C>T (p.Ala437=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3730145	NM_018127.7(ELAC2):c.467G>T (p.Gly156Val)	ELAC2 (G156V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3727985	NM_018127.7(ELAC2):c.1079+16C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3726874	NM_018127.7(ELAC2):c.1908+8del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GBenign
Select item 3725964	NM_018127.7(ELAC2):c.936A>C (p.Pro312=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3724154	NM_018127.7(ELAC2):c.1551T>G (p.Gly517=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3722579	NM_018127.7(ELAC2):c.36C>A (p.Ala12=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3722479	NM_018127.7(ELAC2):c.507T>G (p.Ser169=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3722247	NM_018127.7(ELAC2):c.983+16_983+17del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3719258	NM_018127.7(ELAC2):c.194C>T (p.Ala65Val)	ELAC2 (A65V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3718983	NM_018127.7(ELAC2):c.51G>T (p.Ser17=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3717725	NM_018127.7(ELAC2):c.2108+14_2108+16dup	ELAC2	Duplication (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3716256	NM_018127.7(ELAC2):c.2253+15C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715956	NM_018127.7(ELAC2):c.1304+15del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715955	NM_018127.7(ELAC2):c.645C>T (p.Ser215=)	ELAC2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715950	NM_018127.7(ELAC2):c.1884G>C (p.Leu628=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3715546	NM_018127.7(ELAC2):c.1093dup (p.Thr365fs)	ELAC2 (T325fs +1 more)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3713655	NM_018127.7(ELAC2):c.245+14C>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3712519	NM_018127.7(ELAC2):c.2362C>T (p.Arg788Trp)	ELAC2 (R748W +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3712382	NM_018127.7(ELAC2):c.1461A>T (p.Gly487=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3712339	NM_018127.7(ELAC2):c.1521-16C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3712076	NM_018127.7(ELAC2):c.423T>A (p.Pro141=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3711535	NM_018127.7(ELAC2):c.1521-24CT[2]	ELAC2	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3709014	NM_018127.7(ELAC2):c.246-19T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3707843	NM_018127.7(ELAC2):c.297-10T>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3707104	NM_018127.7(ELAC2):c.1923G>A (p.Leu641=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3706961	NM_018127.7(ELAC2):c.297-9C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3706793	NM_018127.7(ELAC2):c.2283C>T (p.Pro761=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3706155	NM_018127.7(ELAC2):c.1218+11A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3704494	NM_018127.7(ELAC2):c.1353G>A (p.Leu451=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3703606	NM_018127.7(ELAC2):c.2254-16C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3703288	NM_018127.7(ELAC2):c.738+16C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3703167	NM_018127.7(ELAC2):c.367+19G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3697646	NM_018127.7(ELAC2):c.876G>A (p.Leu292=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3696220	NM_018127.7(ELAC2):c.264A>T (p.Gly88=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3695621	NM_018127.7(ELAC2):c.1572G>A (p.Leu524=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3692396	NM_018127.7(ELAC2):c.870+11T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3692108	NM_018127.7(ELAC2):c.1764C>T (p.Leu588=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3691371	NM_018127.7(ELAC2):c.139G>T (p.Gly47Ter)	ELAC2 (G47*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3690098	NM_018127.7(ELAC2):c.697_698delinsAA (p.Gly233Lys)	ELAC2 (G193K +1 more)	Indel (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3690097	NM_018127.7(ELAC2):c.700_713del (p.Val234fs)	ELAC2 (V194fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3686034	NM_018127.7(ELAC2):c.1909-20del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3685914	NM_018127.7(ELAC2):c.1716G>A (p.Pro572=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3685891	NM_018127.7(ELAC2):c.444C>T (p.Leu148=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3684895	NM_018127.7(ELAC2):c.1881G>A (p.Ser627=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3684410	NM_018127.7(ELAC2):c.750G>A (p.Lys250=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3683760	NM_018127.7(ELAC2):c.1233C>G (p.Thr411=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3682801	NM_018127.7(ELAC2):c.1219-17T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3681731	NM_018127.7(ELAC2):c.30_36del (p.Ala11fs)	ELAC2 (A11fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3681442	NM_018127.7(ELAC2):c.1080-16G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3672457	NM_018127.7(ELAC2):c.1699-12T>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3672182	NM_018127.7(ELAC2):c.2452C>G (p.Pro818Ala)	ELAC2 (P817A +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3672099	NM_018127.7(ELAC2):c.1423+1G>A	ELAC2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3671213	NM_018127.7(ELAC2):c.1660-9C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3671156	NM_018127.7(ELAC2):c.983+20G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3670547	NM_018127.7(ELAC2):c.1909-16A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3670386	NM_018127.7(ELAC2):c.296+11C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3670077	NM_018127.7(ELAC2):c.616A>C (p.Arg206=)	ELAC2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3669200	NM_018127.7(ELAC2):c.1698+1G>A	ELAC2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 3669014	NM_018127.7(ELAC2):c.1920T>C (p.Cys640=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3668531	NM_018127.7(ELAC2):c.747A>G (p.Leu249=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3667978	NM_018127.7(ELAC2):c.491-11T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3666519	NM_018127.7(ELAC2):c.1521-20C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3661835	NM_018127.7(ELAC2):c.1802_1803insAACCA (p.His601fs)	ELAC2 (H601fs +2 more)	Insertion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3661741	NM_018127.7(ELAC2):c.871-7T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3661067	NM_018127.7(ELAC2):c.738+1G>A	ELAC2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 3660966	NM_018127.7(ELAC2):c.2430G>A (p.Gln810=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3660948	NM_018127.7(ELAC2):c.2283C>G (p.Pro761=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3656833	NM_018127.7(ELAC2):c.246-15A>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3656695	NM_018127.7(ELAC2):c.2278del (p.Met760fs)	ELAC2 (M720fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3655518	NM_018127.7(ELAC2):c.2359C>G (p.Leu787Val)	ELAC2 (L786V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3655064	NM_018127.7(ELAC2):c.1960G>C (p.Val654Leu)	ELAC2 (V654L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3654225	NM_018127.7(ELAC2):c.941A>G (p.Glu314Gly)	ELAC2 (E274G +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3653682	NM_018127.7(ELAC2):c.1812G>T (p.Met604Ile)	ELAC2 (M564I +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3653099	NM_018127.7(ELAC2):c.433-5A>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3651523	NM_018127.7(ELAC2):c.739-4G>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3651267	NM_018127.7(ELAC2):c.340C>T (p.His114Tyr)	ELAC2 (H114Y)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3649754	NM_018127.7(ELAC2):c.491-20G>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3649547	NM_018127.7(ELAC2):c.526G>T (p.Glu176Ter)	ELAC2 (E176*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3648026	NM_018127.7(ELAC2):c.1578T>A (p.Arg526=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3647554	NM_018127.7(ELAC2):c.2355G>A (p.Arg785=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3642387	NM_018127.7(ELAC2):c.1071G>A (p.Trp357Ter)	ELAC2 (W317* +1 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3633158	NM_018127.7(ELAC2):c.1082T>G (p.Phe361Cys)	ELAC2 (F361C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3628851	NM_018127.7(ELAC2):c.127C>T (p.Arg43Ter)	ELAC2 (R43*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 3628082	NM_018127.7(ELAC2):c.297-16G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3627814	NM_018127.7(ELAC2):c.441C>T (p.Tyr147=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3627537	NM_018127.7(ELAC2):c.1065G>A (p.Gln355=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3626603	NM_018127.7(ELAC2):c.2030-15G>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3625683	NM_018127.7(ELAC2):c.680-6C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3624879	NM_018127.7(ELAC2):c.1020G>A (p.Val340=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3624495	NM_018127.7(ELAC2):c.680-19C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3623822	NM_018127.7(ELAC2):c.2253+15C>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3623589	NM_018127.7(ELAC2):c.180G>A (p.Leu60=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3621380	NM_018127.7(ELAC2):c.2041A>C (p.Thr681Pro)	ELAC2 (T641P +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3621373	NM_018127.7(ELAC2):c.1602G>A (p.Arg534=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3620817	NM_018127.7(ELAC2):c.2254-12T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign

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