ClinVar for MedGen (Select 815856) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25771281.	NM_018127.7(ELAC2):c.52C>T (p.Gln18Ter) GRCh37: Chr17:12921213 GRCh38: Chr17:13017896	ELAC2	Q18*	Combined oxidative phosphorylation defect type 17	Pathogenic (Jul 17, 2023)	criteria provided, single submitter
Select item 24284002.	NM_018127.7(ELAC2):c.1809-14T>G GRCh37: Chr17:12898393 GRCh38: Chr17:12995076	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 24280133.	NM_018127.7(ELAC2):c.38G>A (p.Gly13Glu) GRCh37: Chr17:12921227 GRCh38: Chr17:13017910	ELAC2	G13E	Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 24214524.	NM_018127.7(ELAC2):c.1407C>T (p.Asp469=) GRCh37: Chr17:12903489 GRCh38: Chr17:13000172	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 24214445.	NM_018127.7(ELAC2):c.797+9G>A GRCh37: Chr17:12909229 GRCh38: Chr17:13005912	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 24191126.	NM_018127.7(ELAC2):c.202C>T (p.Arg68Trp) GRCh37: Chr17:12921063 GRCh38: Chr17:13017746	ELAC2	R68W	Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 21995957.	NM_018127.7(ELAC2):c.1659+12G>C GRCh37: Chr17:12899852 GRCh38: Chr17:12996535	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 21974908.	NM_018127.7(ELAC2):c.1147C>T (p.His383Tyr) GRCh37: Chr17:12905829 GRCh38: Chr17:13002512	ELAC2	H343Y, H383Y	Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 21974519.	NM_018127.7(ELAC2):c.549C>G (p.Ile183Met) GRCh37: Chr17:12916534 GRCh38: Chr17:13013217	ELAC2	I183M	Combined oxidative phosphorylation defect type 17	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 219700810.	NM_018127.7(ELAC2):c.257A>G (p.Asn86Ser) GRCh37: Chr17:12920427 GRCh38: Chr17:13017110	ELAC2	N86S	Combined oxidative phosphorylation defect type 17	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 219686111.	NM_018127.7(ELAC2):c.1245del (p.Met416fs) GRCh37: Chr17:12905650 GRCh38: Chr17:13002333	ELAC2	M415fs, M376fs, M416fs	Combined oxidative phosphorylation defect type 17	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 219680012.	NM_018127.7(ELAC2):c.560-12T>C GRCh37: Chr17:12915111 GRCh38: Chr17:13011794	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 219672113.	NM_018127.7(ELAC2):c.1659+8T>C GRCh37: Chr17:12899856 GRCh38: Chr17:12996539	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 219646214.	NM_018127.7(ELAC2):c.797+8T>G GRCh37: Chr17:12909230 GRCh38: Chr17:13005913	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 219597115.	NM_018127.7(ELAC2):c.415T>C (p.Ser139Pro) GRCh37: Chr17:12919102 GRCh38: Chr17:13015785	ELAC2	S139P	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 219556716.	NM_018127.7(ELAC2):c.2397G>A (p.Leu799=) GRCh37: Chr17:12896219 GRCh38: Chr17:12992902	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 219425017.	NM_018127.7(ELAC2):c.75A>C (p.Ala25=) GRCh37: Chr17:12921190 GRCh38: Chr17:13017873	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 219409318.	NM_018127.7(ELAC2):c.2233G>A (p.Val745Ile) GRCh37: Chr17:12897024 GRCh38: Chr17:12993707	ELAC2	V705I, V744I, V745I	Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 219363119.	NM_018127.7(ELAC2):c.2047C>T (p.Leu683=) GRCh37: Chr17:12897803 GRCh38: Chr17:12994486	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 219336720.	NM_018127.7(ELAC2):c.2480G>A (p.Ter827=) GRCh37: Chr17:12896136 GRCh38: Chr17:12992819	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 219317321.	NM_018127.7(ELAC2):c.291G>C (p.Glu97Asp) GRCh37: Chr17:12920393 GRCh38: Chr17:13017076	ELAC2	E97D	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 219048122.	NM_018127.7(ELAC2):c.294C>T (p.His98=) GRCh37: Chr17:12920390 GRCh38: Chr17:13017073	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 219042023.	NM_018127.7(ELAC2):c.2254-14A>G GRCh37: Chr17:12896376 GRCh38: Chr17:12993059	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 218989224.	NM_018127.7(ELAC2):c.793C>G (p.Pro265Ala) GRCh37: Chr17:12909242 GRCh38: Chr17:13005925	ELAC2	P265A, P225A	Combined oxidative phosphorylation defect type 17	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 218939825.	NM_018127.7(ELAC2):c.50C>G (p.Ser17Trp) GRCh37: Chr17:12921215 GRCh38: Chr17:13017898	ELAC2	S17W	Combined oxidative phosphorylation defect type 17	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 218920126.	NM_018127.7(ELAC2):c.490+5G>A GRCh37: Chr17:12917751 GRCh38: Chr17:13014434	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 218834627.	NM_018127.7(ELAC2):c.1693G>A (p.Ala565Thr) GRCh37: Chr17:12899262 GRCh38: Chr17:12995945	ELAC2	A525T, A564T, A565T	Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 218674028.	NM_018127.7(ELAC2):c.1423+9G>T GRCh37: Chr17:12903464 GRCh38: Chr17:13000147	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 218667829.	NM_018127.7(ELAC2):c.30C>G (p.Ser10=) GRCh37: Chr17:12921235 GRCh38: Chr17:13017918	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 218618230.	NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn) GRCh37: Chr17:12908396 GRCh38: Chr17:13005079	ELAC2	T258N, T298N	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218547731.	NM_018127.7(ELAC2):c.1560A>T (p.Thr520=) GRCh37: Chr17:12899963 GRCh38: Chr17:12996646	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 218515132.	NM_018127.7(ELAC2):c.102G>A (p.Lys34=) GRCh37: Chr17:12921163 GRCh38: Chr17:13017846	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 218298433.	NM_018127.7(ELAC2):c.679+14C>G GRCh37: Chr17:12914966 GRCh38: Chr17:13011649	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 218121134.	NM_018127.7(ELAC2):c.1729C>G (p.Leu577Val) GRCh37: Chr17:12899099 GRCh38: Chr17:12995782	ELAC2	L576V, L577V, L537V	Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 218057035.	NM_018127.7(ELAC2):c.1062C>T (p.Tyr354=) GRCh37: Chr17:12906813 GRCh38: Chr17:13003496	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 217758036.	NM_018127.7(ELAC2):c.1011G>T (p.Val337=) GRCh37: Chr17:12906864 GRCh38: Chr17:13003547	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 217713237.	NM_018127.7(ELAC2):c.863_866del (p.Gly288fs) GRCh37: Chr17:12909074-12909077 GRCh38: Chr17:13005757-13005760	ELAC2	G248fs, G288fs	Combined oxidative phosphorylation defect type 17	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 217194638.	NM_018127.7(ELAC2):c.496C>G (p.Arg166Gly) GRCh37: Chr17:12916587 GRCh38: Chr17:13013270	ELAC2	R166G	Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 217128739.	NM_018127.7(ELAC2):c.1242G>A (p.Val414=) GRCh37: Chr17:12905653 GRCh38: Chr17:13002336	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 216986740.	NM_018127.7(ELAC2):c.1535dup (p.Leu513fs) GRCh37: Chr17:12899987-12899988 GRCh38: Chr17:12996670-12996671	ELAC2	L473fs, L512fs, L513fs	Combined oxidative phosphorylation defect type 17	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 216842241.	NM_018127.7(ELAC2):c.1305-8_1305-7insTC GRCh37: Chr17:12903598-12903599 GRCh38: Chr17:13000281-13000282	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 216724742.	NM_018127.7(ELAC2):c.1052A>G (p.Asp351Gly) GRCh37: Chr17:12906823 GRCh38: Chr17:13003506	ELAC2	D311G, D351G	Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 216536143.	NM_018127.7(ELAC2):c.465T>C (p.Ser155=) GRCh37: Chr17:12917781 GRCh38: Chr17:13014464	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 216513244.	NM_018127.7(ELAC2):c.1648G>T (p.Asp550Tyr) GRCh37: Chr17:12899875 GRCh38: Chr17:12996558	ELAC2	D510Y, D550Y, D549Y	Combined oxidative phosphorylation defect type 17	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 216484045.	NM_018127.7(ELAC2):c.245+18G>T GRCh37: Chr17:12921002 GRCh38: Chr17:13017685	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216448346.	NM_018127.7(ELAC2):c.1690C>T (p.Arg564Cys) GRCh37: Chr17:12899265 GRCh38: Chr17:12995948	ELAC2	R524C, R564C, R563C	Combined oxidative phosphorylation defect type 17	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 216242947.	NM_018127.7(ELAC2):c.2253+15C>T GRCh37: Chr17:12896989 GRCh38: Chr17:12993672	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216197048.	NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp) GRCh37: Chr17:12896204 GRCh38: Chr17:12992887	ELAC2	E764D, E803D, E804D	Combined oxidative phosphorylation defect type 17	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 216187649.	NM_018127.7(ELAC2):c.402A>G (p.Pro134=) GRCh37: Chr17:12919115 GRCh38: Chr17:13015798	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 216165350.	NM_018127.7(ELAC2):c.1778A>G (p.Asn593Ser) GRCh37: Chr17:12899050 GRCh38: Chr17:12995733	ELAC2	N553S, N592S, N593S	Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 216070551.	NM_018127.7(ELAC2):c.432+11C>T GRCh37: Chr17:12919074 GRCh38: Chr17:13015757	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 216030752.	NM_018127.7(ELAC2):c.1908G>A (p.Glu636=) GRCh37: Chr17:12898280 GRCh38: Chr17:12994963	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 215797453.	NM_018127.7(ELAC2):c.1909-14C>T GRCh37: Chr17:12898215 GRCh38: Chr17:12994898	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 215794954.	NM_018127.7(ELAC2):c.560-18G>A GRCh37: Chr17:12915117 GRCh38: Chr17:13011800	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 215721755.	NM_018127.7(ELAC2):c.797+20C>T GRCh37: Chr17:12909218 GRCh38: Chr17:13005901	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 215640656.	NM_018127.7(ELAC2):c.296+11C>T GRCh37: Chr17:12920377 GRCh38: Chr17:13017060	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 215623157.	NM_018127.7(ELAC2):c.1219-12T>C GRCh37: Chr17:12905688 GRCh38: Chr17:13002371	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 215591958.	NM_018127.7(ELAC2):c.1079+19C>T GRCh37: Chr17:12906777 GRCh38: Chr17:13003460	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 215524459.	NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys) GRCh37: Chr17:12896290 GRCh38: Chr17:12992973	ELAC2	E775K, E736K, E776K	Combined oxidative phosphorylation defect type 17	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 215295260.	NM_018127.7(ELAC2):c.1214G>A (p.Cys405Tyr) GRCh37: Chr17:12905762 GRCh38: Chr17:13002445	ELAC2	C365Y, C405Y	Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 215242361.	NM_018127.7(ELAC2):c.797+1G>A GRCh37: Chr17:12909237 GRCh38: Chr17:13005920	ELAC2		Combined oxidative phosphorylation defect type 17	Likely pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 215157362.	NM_018127.7(ELAC2):c.689A>G (p.Gln230Arg) GRCh37: Chr17:12913979 GRCh38: Chr17:13010662	ELAC2	Q230R, Q190R	Combined oxidative phosphorylation defect type 17	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 215091963.	NM_018127.7(ELAC2):c.798-19C>T GRCh37: Chr17:12909161 GRCh38: Chr17:13005844	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 215021964.	NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr) GRCh37: Chr17:12897008 GRCh38: Chr17:12993691	ELAC2	M750T, M710T, M749T	Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 214949365.	NM_018127.7(ELAC2):c.2064C>T (p.Thr688=) GRCh37: Chr17:12897786 GRCh38: Chr17:12994469	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 214911566.	NM_018127.7(ELAC2):c.1889G>A (p.Arg630Gln) GRCh37: Chr17:12898299 GRCh38: Chr17:12994982	ELAC2	R629Q, R630Q, R590Q	Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 214735667.	NM_018127.7(ELAC2):c.1727dup (p.Leu576fs) GRCh37: Chr17:12899100-12899101 GRCh38: Chr17:12995783-12995784	ELAC2	L576fs, L536fs, L575fs	Combined oxidative phosphorylation defect type 17	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 214719568.	NM_018127.7(ELAC2):c.1715C>T (p.Pro572Leu) GRCh37: Chr17:12899113 GRCh38: Chr17:12995796	ELAC2	P532L, P572L, P571L	Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 214682369.	NM_018127.7(ELAC2):c.1098G>A (p.Gln366=) GRCh37: Chr17:12905878 GRCh38: Chr17:13002561	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 214580370.	NM_018127.7(ELAC2):c.1405G>A (p.Asp469Asn) GRCh37: Chr17:12903491 GRCh38: Chr17:13000174	ELAC2	D429N, D468N, D469N	Combined oxidative phosphorylation defect type 17	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 214374271.	NM_018127.7(ELAC2):c.433G>A (p.Glu145Lys) GRCh37: Chr17:12917813 GRCh38: Chr17:13014496	ELAC2	E145K	Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 214371172.	NM_018127.7(ELAC2):c.975C>G (p.Thr325=) GRCh37: Chr17:12908314 GRCh38: Chr17:13004997	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 214112473.	NM_018127.7(ELAC2):c.1305-12C>G GRCh37: Chr17:12903603 GRCh38: Chr17:13000286	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 214073474.	NM_018127.7(ELAC2):c.444C>G (p.Leu148=) GRCh37: Chr17:12917802 GRCh38: Chr17:13014485	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 214055875.	NM_018127.7(ELAC2):c.472T>G (p.Leu158Val) GRCh37: Chr17:12917774 GRCh38: Chr17:13014457	ELAC2	L158V	Combined oxidative phosphorylation defect type 17, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214052176.	NM_018127.7(ELAC2):c.1424-12A>G GRCh37: Chr17:12901837 GRCh38: Chr17:12998520	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 213960877.	NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu) GRCh37: Chr17:12896284 GRCh38: Chr17:12992967	ELAC2	M738L, M778L, M777L	Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 213943878.	NM_018127.7(ELAC2):c.738+15C>G GRCh37: Chr17:12913915 GRCh38: Chr17:13010598	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 213829279.	NM_018127.7(ELAC2):c.183G>T (p.Gln61His) GRCh37: Chr17:12921082 GRCh38: Chr17:13017765	ELAC2	Q61H	Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 213721480.	NM_018127.7(ELAC2):c.640G>C (p.Asp214His) GRCh37: Chr17:12915019 GRCh38: Chr17:13011702	ELAC2	D214H	Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 213710281.	NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val) GRCh37: Chr17:12896293 GRCh38: Chr17:12992976	ELAC2	I774V, I735V, I775V	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 213398682.	NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr) GRCh37: Chr17:12896151 GRCh38: Chr17:12992834	ELAC2	K782T, K821T, K822T	Combined oxidative phosphorylation defect type 17	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213257983.	NM_018127.7(ELAC2):c.855T>C (p.Thr285=) GRCh37: Chr17:12909085 GRCh38: Chr17:13005768	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213193684.	NM_018127.7(ELAC2):c.297-3T>A GRCh37: Chr17:12920252 GRCh38: Chr17:13016935	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 212966485.	NM_018127.7(ELAC2):c.214G>A (p.Ala72Thr) GRCh37: Chr17:12921051 GRCh38: Chr17:13017734	ELAC2	A72T	Combined oxidative phosphorylation defect type 17	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter
Select item 212484786.	NM_018127.7(ELAC2):c.1434T>A (p.Ser478Arg) GRCh37: Chr17:12901815 GRCh38: Chr17:12998498	ELAC2	S438R, S477R, S478R	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212397387.	NM_018127.7(ELAC2):c.554T>C (p.Ile185Thr) GRCh37: Chr17:12916529 GRCh38: Chr17:13013212	ELAC2	I185T	Combined oxidative phosphorylation defect type 17	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 212232588.	NM_018127.7(ELAC2):c.1770G>C (p.Gln590His) GRCh37: Chr17:12899058 GRCh38: Chr17:12995741	ELAC2	Q590H, Q589H, Q550H	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212041389.	NM_018127.7(ELAC2):c.1999A>G (p.Thr667Ala) GRCh37: Chr17:12898111 GRCh38: Chr17:12994794	ELAC2	T666A, T667A, T627A	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 212007890.	NM_018127.7(ELAC2):c.1659+2dup GRCh37: Chr17:12899861-12899862 GRCh38: Chr17:12996544-12996545	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211922791.	NM_018127.7(ELAC2):c.1679T>A (p.Leu560Gln) GRCh37: Chr17:12899276 GRCh38: Chr17:12995959	ELAC2	L559Q, L520Q, L560Q	Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211771192.	NM_018127.7(ELAC2):c.245+9A>G GRCh37: Chr17:12921011 GRCh38: Chr17:13017694	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 211668193.	NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter) GRCh37: Chr17:12906809 GRCh38: Chr17:13003492	ELAC2	Q316, Q356	Combined oxidative phosphorylation defect type 17	Pathogenic (Mar 25, 2022)	criteria provided, single submitter
Select item 211594394.	NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter) GRCh37: Chr17:12906813 GRCh38: Chr17:13003496	ELAC2	Y314, Y354	Combined oxidative phosphorylation defect type 17	Pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 211581795.	NC_000017.11:g.13016942_13016943insGAAAACATTTAAACAGGATAACATGAACAGAACAAGCAACCTTTAACCTAAGAATGA GRCh37: Chr17:12920236-12920237 GRCh38: Chr17:13016919-13016920	ELAC2		Combined oxidative phosphorylation defect type 17	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211409596.	NM_018127.7(ELAC2):c.2368G>A (p.Val790Met) GRCh37: Chr17:12896248 GRCh38: Chr17:12992931	ELAC2	V790M, V750M, V789M	Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211265497.	NM_018127.7(ELAC2):c.1262G>C (p.Cys421Ser) GRCh37: Chr17:12905633 GRCh38: Chr17:13002316	ELAC2	C381S, C420S, C421S	Combined oxidative phosphorylation defect type 17	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 211212698.	NM_018127.7(ELAC2):c.8C>G (p.Ala3Gly) GRCh37: Chr17:12921257 GRCh38: Chr17:13017940	ELAC2	A3G	Combined oxidative phosphorylation defect type 17	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 210403999.	NM_018127.7(ELAC2):c.126G>C (p.Thr42=) GRCh37: Chr17:12921139 GRCh38: Chr17:13017822	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 2103005100.	NM_018127.7(ELAC2):c.680-16G>C GRCh37: Chr17:12914004 GRCh38: Chr17:13010687	ELAC2		Combined oxidative phosphorylation defect type 17	Likely benign (Feb 24, 2022)	criteria provided, single submitter

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