ClinVar for MedGen (Select 815856) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023762	NM_018127.7(ELAC2):c.984-2A>G	ELAC2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 3015882	NM_018127.7(ELAC2):c.1442C>T (p.Pro481Leu)	ELAC2 (P441L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3010871	NM_018127.7(ELAC2):c.1845G>A (p.Glu615=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3005109	NM_018127.7(ELAC2):c.246-20G>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3004086	NM_018127.7(ELAC2):c.2034A>G (p.Lys678=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3002980	NM_018127.7(ELAC2):c.2109-18T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 3002453	NM_018127.7(ELAC2):c.557A>G (p.His186Arg)	ELAC2 (H186R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2997308	NM_018127.7(ELAC2):c.333A>G (p.Thr111=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2996960	NM_018127.7(ELAC2):c.984-3del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2992149	NM_018127.7(ELAC2):c.297-8A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2988881	NM_018127.7(ELAC2):c.1214del (p.Cys405fs)	ELAC2 (C365fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 2983464	NM_018127.7(ELAC2):c.2073T>C (p.Asp691=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2980774	NM_018127.7(ELAC2):c.2029+1G>A	ELAC2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 2978507	NM_018127.7(ELAC2):c.983+19G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2976960	NM_018127.7(ELAC2):c.1808+7A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2976674	NM_018127.7(ELAC2):c.1182G>A (p.Pro394=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2966669	NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2966163	NM_018127.7(ELAC2):c.2223G>A (p.Glu741=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2965709	NM_018127.7(ELAC2):c.1962G>A (p.Val654=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2963504	NM_018127.7(ELAC2):c.1173C>T (p.Leu391=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2918646	NM_018127.7(ELAC2):c.1304+15G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2914463	NM_018127.7(ELAC2):c.1917C>T (p.Thr639=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2914178	NM_018127.7(ELAC2):c.1678C>T (p.Leu560=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2913456	NM_018127.7(ELAC2):c.627A>G (p.Pro209=)	ELAC2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2913206	NM_018127.7(ELAC2):c.297-14T>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2912373	NM_018127.7(ELAC2):c.1662C>T (p.Gly554=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2911983	NM_018127.7(ELAC2):c.792C>T (p.Leu264=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2911732	NM_018127.7(ELAC2):c.983+17A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2906669	NM_018127.7(ELAC2):c.1659+20A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2906296	NM_018127.7(ELAC2):c.432+12del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2905124	NM_018127.7(ELAC2):c.1080-16dup	ELAC2	Duplication (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2904685	NM_018127.7(ELAC2):c.739-20C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2903369	NM_018127.7(ELAC2):c.1626G>A (p.Val542=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2901090	NM_018127.7(ELAC2):c.106C>T (p.Pro36Ser)	ELAC2 (P36S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2896090	NM_018127.7(ELAC2):c.606G>A (p.Arg202=)	ELAC2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2895726	NM_018127.7(ELAC2):c.368-10T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2893218	NM_018127.7(ELAC2):c.501C>G (p.Pro167=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2892918	NM_018127.7(ELAC2):c.2164C>T (p.Leu722=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2887928	NM_018127.7(ELAC2):c.738+12T>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2887313	NM_018127.7(ELAC2):c.360C>T (p.Gly120=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2886359	NM_018127.7(ELAC2):c.1659+12G>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2885407	NM_018127.7(ELAC2):c.1440C>T (p.Tyr480=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2885223	NM_018127.7(ELAC2):c.1478C>G (p.Pro493Arg)	ELAC2 (P453R +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2884340	NM_018127.7(ELAC2):c.367+15del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2883883	NM_018127.7(ELAC2):c.234C>G (p.Ser78=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2881086	NM_018127.7(ELAC2):c.1674C>T (p.Ile558=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2880221	NM_018127.7(ELAC2):c.797+8_797+9del	ELAC2	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2877681	NM_018127.7(ELAC2):c.2030-12C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2865870	NM_018127.7(ELAC2):c.1809-1G>A	ELAC2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 2865573	NM_018127.7(ELAC2):c.660T>C (p.Asn220=)	ELAC2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2865154	NM_018127.7(ELAC2):c.828T>C (p.Ala276=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2863017	NM_018127.7(ELAC2):c.2085G>A (p.Glu695=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2862630	NM_018127.7(ELAC2):c.1908+9C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2862569	NM_018127.7(ELAC2):c.1080-20C>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2857077	NM_018127.7(ELAC2):c.2049G>A (p.Leu683=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2853637	NM_018127.7(ELAC2):c.117C>T (p.His39=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2851090	NM_018127.7(ELAC2):c.296+13_296+14del	ELAC2	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2846408	NM_018127.7(ELAC2):c.144G>T (p.Pro48=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2841860	NM_018127.7(ELAC2):c.1119C>T (p.Asn373=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2827303	NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)	ELAC2 (P726Q +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2824952	NM_018127.7(ELAC2):c.2312_2313del (p.Phe771fs)	ELAC2 (F731fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2823260	NM_018127.7(ELAC2):c.367+15T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2820115	NM_018127.7(ELAC2):c.159C>G (p.Gly53=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2818495	NM_018127.7(ELAC2):c.432+17A>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2814360	NM_018127.7(ELAC2):c.1185C>T (p.Asp395=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2808783	NM_018127.7(ELAC2):c.1218+19C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2801409	NM_018127.7(ELAC2):c.1452C>A (p.Ile484=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2797044	NM_018127.7(ELAC2):c.1713G>A (p.Lys571=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2791575	NM_018127.7(ELAC2):c.1275C>T (p.Tyr425=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2781850	NM_018127.7(ELAC2):c.368G>A (p.Gly123Glu)	ELAC2 (G123E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2781812	NM_018127.7(ELAC2):c.171C>G (p.Thr57=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2778085	NM_018127.7(ELAC2):c.1053C>T (p.Asp351=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2776477	NM_018127.7(ELAC2):c.897T>C (p.Pro299=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2771177	NM_018127.7(ELAC2):c.2030-18del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2771063	NM_018127.7(ELAC2):c.1423+19A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2770519	NM_018127.7(ELAC2):c.1304+9C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2768233	NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2767560	NM_018127.7(ELAC2):c.174G>C (p.Val58=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2761400	NM_018127.7(ELAC2):c.180G>C (p.Leu60=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2758770	NM_018127.7(ELAC2):c.297-9C>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2758769	NM_018127.7(ELAC2):c.297-5del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2756840	NM_018127.7(ELAC2):c.299dup (p.Leu100fs)	ELAC2 (L100fs)	Duplication (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 2752653	NM_018127.7(ELAC2):c.713C>T (p.Ser238Phe)	ELAC2 (S198F +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2750587	NM_018127.7(ELAC2):c.739-13_739-9del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2742519	NM_018127.7(ELAC2):c.1699-1G>A	ELAC2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 2741317	NM_018127.7(ELAC2):c.246-8T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2738675	NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2733635	NM_018127.7(ELAC2):c.597T>A (p.Ser199Arg)	ELAC2 (S199R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2733137	NM_018127.7(ELAC2):c.490+11G>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2730911	NM_018127.7(ELAC2):c.156C>A (p.Ser52=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2727604	NM_018127.7(ELAC2):c.2254-13T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2725314	NM_018127.7(ELAC2):c.1716G>T (p.Pro572=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2724626	NM_018127.7(ELAC2):c.858T>C (p.His286=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2723007	NM_018127.7(ELAC2):c.198T>C (p.Gly66=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2721694	NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)	ELAC2 (E250fs +1 more)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation defect type 17	GPathogenic
Select item 2720761	NM_018127.7(ELAC2):c.496C>T (p.Arg166Trp)	ELAC2 (R166W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2720700	NM_018127.7(ELAC2):c.1424-6dup	ELAC2	Duplication (intron variant)	Combined oxidative phosphorylation defect type 17	GBenign
Select item 2720408	NM_018127.7(ELAC2):c.680-14G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2719458	NM_018127.7(ELAC2):c.1521-2A>G	ELAC2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 17	GLikely pathogenic
Select item 2718319	NM_018127.7(ELAC2):c.1464A>G (p.Thr488=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign

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