ClinVar for MedGen (Select 108273) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24219281.	NM_025136.4(OPA3):c.40T>G (p.Leu14Val) GRCh37: Chr19:46087983 GRCh38: Chr19:45584725	OPA3	L14V	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 24197282.	NM_025136.4(OPA3):c.458G>T (p.Arg153Leu) GRCh37: Chr19:46056854 GRCh38: Chr19:45553596	OPA3	R153L	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 21991613.	NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer) GRCh37: Chr19:46056888-46056889 GRCh38: Chr19:45553630-45553631	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 21977334.	NM_025136.4(OPA3):c.34C>G (p.Leu12Val) GRCh37: Chr19:46087989 GRCh38: Chr19:45584731	OPA3	L12V	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 21951985.	NM_025136.4(OPA3):c.289C>G (p.Leu97Val) GRCh37: Chr19:46057023 GRCh38: Chr19:45553765	OPA3	L97V	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 21913936.	NM_025136.4(OPA3):c.115A>G (p.Thr39Ala) GRCh37: Chr19:46087908 GRCh38: Chr19:45584650	OPA3	T39A	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 21902287.	NM_025136.4(OPA3):c.152G>A (p.Trp51Ter) GRCh37: Chr19:46057160 GRCh38: Chr19:45553902	OPA3	W51*	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 21879208.	NM_025136.4(OPA3):c.437A>G (p.Gln146Arg) GRCh37: Chr19:46056875 GRCh38: Chr19:45553617	OPA3	Q146R	3-Methylglutaconic aciduria type 3, Optic atrophy 3, Inborn genetic diseases	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21821549.	NM_025136.4(OPA3):c.24G>A (p.Met8Ile) GRCh37: Chr19:46087999 GRCh38: Chr19:45584741	OPA3	M8I	Inborn genetic diseases, 3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218071110.	NM_025136.4(OPA3):c.142+20C>T GRCh37: Chr19:46087861 GRCh38: Chr19:45584603	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 218024311.	NM_025136.4(OPA3):c.225G>A (p.Ala75=) GRCh37: Chr19:46057087 GRCh38: Chr19:45553829	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 216739512.	NM_025136.4(OPA3):c.352G>C (p.Ala118Pro) GRCh37: Chr19:46056960 GRCh38: Chr19:45553702	OPA3	A118P	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 216689013.	NM_025136.4(OPA3):c.417G>C (p.Gln139His) GRCh37: Chr19:46056895 GRCh38: Chr19:45553637	OPA3	Q139H	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 216681014.	NM_025136.4(OPA3):c.220G>T (p.Glu74Ter) GRCh37: Chr19:46057092 GRCh38: Chr19:45553834	OPA3	E74*	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 216088115.	NM_025136.4(OPA3):c.121A>G (p.Ile41Val) GRCh37: Chr19:46087902 GRCh38: Chr19:45584644	OPA3	I41V	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 215727116.	NM_025136.4(OPA3):c.143-17C>T GRCh37: Chr19:46057186 GRCh38: Chr19:45553928	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 215599517.	NM_025136.4(OPA3):c.337G>A (p.Glu113Lys) GRCh37: Chr19:46056975 GRCh38: Chr19:45553717	OPA3	E113K	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 214739818.	NM_025136.4(OPA3):c.448G>C (p.Glu150Gln) GRCh37: Chr19:46056864 GRCh38: Chr19:45553606	OPA3	E150Q	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 214261119.	NM_025136.4(OPA3):c.210G>A (p.Pro70=) GRCh37: Chr19:46057102 GRCh38: Chr19:45553844	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 214228020.	NM_025136.4(OPA3):c.45C>T (p.Gly15=) GRCh37: Chr19:46087978 GRCh38: Chr19:45584720	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 213471121.	NM_025136.4(OPA3):c.434C>T (p.Pro145Leu) GRCh37: Chr19:46056878 GRCh38: Chr19:45553620	OPA3	P145L	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 213428722.	NM_025136.4(OPA3):c.360C>A (p.Asn120Lys) GRCh37: Chr19:46056952 GRCh38: Chr19:45553694	OPA3	N120K	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213142923.	NM_025136.4(OPA3):c.513C>T (p.Ser171=) GRCh37: Chr19:46056799 GRCh38: Chr19:45553541	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 212887824.	NM_025136.4(OPA3):c.103G>T (p.Glu35Ter) GRCh37: Chr19:46087920 GRCh38: Chr19:45584662	OPA3	E35*	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 212832425.	NM_025136.4(OPA3):c.247C>T (p.Leu83=) GRCh37: Chr19:46057065 GRCh38: Chr19:45553807	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 211683626.	NM_025136.4(OPA3):c.373G>C (p.Glu125Gln) GRCh37: Chr19:46056939 GRCh38: Chr19:45553681	OPA3	E125Q	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 211161527.	NM_025136.4(OPA3):c.84G>A (p.Lys28=) GRCh37: Chr19:46087939 GRCh38: Chr19:45584681	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 210840328.	NM_025136.4(OPA3):c.228A>T (p.Ala76=) GRCh37: Chr19:46057084 GRCh38: Chr19:45553826	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 210440329.	NM_025136.4(OPA3):c.132G>C (p.Pro44=) GRCh37: Chr19:46087891 GRCh38: Chr19:45584633	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 209881630.	NM_025136.4(OPA3):c.380G>A (p.Gly127Asp) GRCh37: Chr19:46056932 GRCh38: Chr19:45553674	OPA3	G127D	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209797331.	NM_025136.4(OPA3):c.15G>A (p.Ala5=) GRCh37: Chr19:46088008 GRCh38: Chr19:45584750	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 209753132.	NM_025136.4(OPA3):c.89C>T (p.Ala30Val) GRCh37: Chr19:46087934 GRCh38: Chr19:45584676	OPA3	A30V	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 209346933.	NM_025136.4(OPA3):c.136G>A (p.Ala46Thr) GRCh37: Chr19:46087887 GRCh38: Chr19:45584629	OPA3	A46T	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 208451534.	NM_025136.4(OPA3):c.342G>A (p.Glu114=) GRCh37: Chr19:46056970 GRCh38: Chr19:45553712	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208331735.	NM_025136.4(OPA3):c.477G>T (p.Val159=) GRCh37: Chr19:46056835 GRCh38: Chr19:45553577	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 208315636.	NM_025136.4(OPA3):c.484C>T (p.Gln162Ter) GRCh37: Chr19:46056828 GRCh38: Chr19:45553570	OPA3	Q162*	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 208007037.	NM_025136.4(OPA3):c.304T>G (p.Trp102Gly) GRCh37: Chr19:46057008 GRCh38: Chr19:45553750	OPA3	W102G	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 207891638.	NM_025136.4(OPA3):c.455T>C (p.Leu152Pro) GRCh37: Chr19:46056857 GRCh38: Chr19:45553599	OPA3	L152P	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 205305239.	NM_025136.4(OPA3):c.25G>A (p.Ala9Thr) GRCh37: Chr19:46087998 GRCh38: Chr19:45584740	OPA3	A9T	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 204351740.	NM_025136.4(OPA3):c.494A>G (p.Asn165Ser) GRCh37: Chr19:46056818 GRCh38: Chr19:45553560	OPA3	N165S	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 204117141.	NM_025136.4(OPA3):c.238G>A (p.Gly80Ser) GRCh37: Chr19:46057074 GRCh38: Chr19:45553816	OPA3	G80S	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 203316642.	NM_025136.4(OPA3):c.143-9C>A GRCh37: Chr19:46057178 GRCh38: Chr19:45553920	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 202954343.	NM_025136.4(OPA3):c.204C>A (p.Ile68=) GRCh37: Chr19:46057108 GRCh38: Chr19:45553850	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 202868944.	NM_025136.4(OPA3):c.364C>T (p.Leu122=) GRCh37: Chr19:46056948 GRCh38: Chr19:45553690	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202354845.	NM_025136.4(OPA3):c.143-4G>T GRCh37: Chr19:46057173 GRCh38: Chr19:45553915	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 202163946.	NM_025136.4(OPA3):c.462A>G (p.Thr154=) GRCh37: Chr19:46056850 GRCh38: Chr19:45553592	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201907847.	NM_025136.4(OPA3):c.477G>C (p.Val159=) GRCh37: Chr19:46056835 GRCh38: Chr19:45553577	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201407448.	NM_025136.4(OPA3):c.253G>C (p.Gly85Arg) GRCh37: Chr19:46057059 GRCh38: Chr19:45553801	OPA3	G85R	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 200219149.	NM_025136.4(OPA3):c.195C>A (p.Gly65=) GRCh37: Chr19:46057117 GRCh38: Chr19:45553859	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 199950550.	NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr) GRCh37: Chr19:46056882-46056883 GRCh38: Chr19:45553624-45553625	OPA3	P144T	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 198648051.	NM_025136.4(OPA3):c.517G>A (p.Ala173Thr) GRCh37: Chr19:46056795 GRCh38: Chr19:45553537	OPA3	A173T	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 197776352.	NM_025136.4(OPA3):c.436C>A (p.Gln146Lys) GRCh37: Chr19:46056876 GRCh38: Chr19:45553618	OPA3	Q146K	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 196957653.	NM_025136.4(OPA3):c.244G>T (p.Glu82Ter) GRCh37: Chr19:46057068 GRCh38: Chr19:45553810	OPA3	E82*	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 196559654.	NM_025136.4(OPA3):c.392T>A (p.Leu131Gln) GRCh37: Chr19:46056920 GRCh38: Chr19:45553662	OPA3	L131Q	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 195755255.	NM_025136.4(OPA3):c.165G>T (p.Arg55=) GRCh37: Chr19:46057147 GRCh38: Chr19:45553889	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 195136256.	NM_025136.4(OPA3):c.111C>T (p.Phe37=) GRCh37: Chr19:46087912 GRCh38: Chr19:45584654	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 194489857.	NM_025136.4(OPA3):c.265A>G (p.Ile89Val) GRCh37: Chr19:46057047 GRCh38: Chr19:45553789	OPA3	I89V	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 194352758.	NM_025136.4(OPA3):c.374A>T (p.Glu125Val) GRCh37: Chr19:46056938 GRCh38: Chr19:45553680	OPA3	E125V	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 193931859.	NM_025136.4(OPA3):c.469C>G (p.Gln157Glu) GRCh37: Chr19:46056843 GRCh38: Chr19:45553585	OPA3	Q157E	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 193409160.	NM_025136.4(OPA3):c.81del (p.Lys28fs) GRCh37: Chr19:46087942 GRCh38: Chr19:45584684	OPA3	K28fs	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 192466661.	NM_025136.4(OPA3):c.472G>A (p.Glu158Lys) GRCh37: Chr19:46056840 GRCh38: Chr19:45553582	OPA3	E158K	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 190842962.	NM_025136.4(OPA3):c.142+13C>T GRCh37: Chr19:46087868 GRCh38: Chr19:45584610	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 190755663.	NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis) GRCh37: Chr19:46056926-46056927 GRCh38: Chr19:45553668-45553669	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 190737364.	NM_025136.4(OPA3):c.94C>T (p.Arg32Cys) GRCh37: Chr19:46087929 GRCh38: Chr19:45584671	OPA3	R32C	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 190011065.	NM_025136.4(OPA3):c.201del (p.Ile68fs) GRCh37: Chr19:46057111 GRCh38: Chr19:45553853	OPA3	I68fs	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 172723566.	NM_025136.4(OPA3):c.143-1G>A GRCh37: Chr19:46057170 GRCh38: Chr19:45553912	OPA3		3-Methylglutaconic aciduria type 3	Pathogenic	criteria provided, single submitter
Select item 172342167.	NC_000019.9:g.(46057170_46087880)_(46088123_?)del GRCh37: Chr19:46057170-46088123	OPA3		3-Methylglutaconic aciduria type 3	Likely pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 172230868.	NM_025136.4(OPA3):c.30G>C (p.Lys10Asn) GRCh37: Chr19:46087993 GRCh38: Chr19:45584735	OPA3	K10N	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 171913069.	NM_025136.4(OPA3):c.212T>C (p.Leu71Pro) GRCh37: Chr19:46057100 GRCh38: Chr19:45553842	OPA3	L71P	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 171559070.	NM_025136.4(OPA3):c.91G>C (p.Ala31Pro) GRCh37: Chr19:46087932 GRCh38: Chr19:45584674	OPA3	A31P	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 171439471.	NM_025136.4(OPA3):c.73A>G (p.Asn25Asp) GRCh37: Chr19:46087950 GRCh38: Chr19:45584692	OPA3	N25D	3-Methylglutaconic aciduria type 3, Optic atrophy 3	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 170996272.	NM_025136.4(OPA3):c.431C>G (p.Pro144Arg) GRCh37: Chr19:46056881 GRCh38: Chr19:45553623	OPA3	P144R	3-Methylglutaconic aciduria type 3, Optic atrophy 3, Optic atrophy 3	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167494873.	NM_025136.4(OPA3):c.143-8C>T GRCh37: Chr19:46057177 GRCh38: Chr19:45553919	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jul 15, 2021)	criteria provided, single submitter
Select item 167260174.	NM_025136.4(OPA3):c.531C>T (p.Ser177=) GRCh37: Chr19:46056781 GRCh38: Chr19:45553523	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 167067875.	NM_025136.4(OPA3):c.30G>A (p.Lys10=) GRCh37: Chr19:46087993 GRCh38: Chr19:45584735	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jan 11, 2021)	criteria provided, single submitter
Select item 166864576.	NM_025136.4(OPA3):c.453A>G (p.Glu151=) GRCh37: Chr19:46056859 GRCh38: Chr19:45553601	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jun 18, 2021)	criteria provided, single submitter
Select item 166383177.	NM_025136.4(OPA3):c.235C>T (p.Leu79=) GRCh37: Chr19:46057077 GRCh38: Chr19:45553819	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 165730578.	NM_025136.4(OPA3):c.363G>C (p.Ala121=) GRCh37: Chr19:46056949 GRCh38: Chr19:45553691	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 165426479.	NM_025136.4(OPA3):c.142+18T>C GRCh37: Chr19:46087863 GRCh38: Chr19:45584605	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Dec 2, 2020)	criteria provided, single submitter
Select item 165269080.	NM_025136.4(OPA3):c.144G>A (p.Leu48=) GRCh37: Chr19:46057168 GRCh38: Chr19:45553910	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 165228981.	NM_025136.4(OPA3):c.462A>C (p.Thr154=) GRCh37: Chr19:46056850 GRCh38: Chr19:45553592	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 164422682.	NM_025136.4(OPA3):c.333G>A (p.Lys111=) GRCh37: Chr19:46056979 GRCh38: Chr19:45553721	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 164195783.	NM_025136.4(OPA3):c.237G>A (p.Leu79=) GRCh37: Chr19:46057075 GRCh38: Chr19:45553817	OPA3		Optic atrophy 3, 3-Methylglutaconic aciduria type 3	Likely benign (Mar 24, 2021)	criteria provided, single submitter
Select item 164015584.	NM_025136.4(OPA3):c.516C>T (p.His172=) GRCh37: Chr19:46056796 GRCh38: Chr19:45553538	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 163897485.	NM_025136.4(OPA3):c.142+16A>G GRCh37: Chr19:46087865 GRCh38: Chr19:45584607	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 163096086.	NM_025136.4(OPA3):c.441C>G (p.Gly147=) GRCh37: Chr19:46056871 GRCh38: Chr19:45553613	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 162837287.	NM_025136.4(OPA3):c.142+10A>T GRCh37: Chr19:46087871 GRCh38: Chr19:45584613	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 161807788.	NM_025136.4(OPA3):c.507C>G (p.Ser169=) GRCh37: Chr19:46056805 GRCh38: Chr19:45553547	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 161363789.	NM_025136.4(OPA3):c.282C>T (p.Gly94=) GRCh37: Chr19:46057030 GRCh38: Chr19:45553772	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 161315190.	NM_025136.4(OPA3):c.255C>G (p.Gly85=) GRCh37: Chr19:46057057 GRCh38: Chr19:45553799	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 159275491.	NM_025136.4(OPA3):c.351T>C (p.Ala117=) GRCh37: Chr19:46056961 GRCh38: Chr19:45553703	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 158937492.	NM_025136.4(OPA3):c.143-9C>G GRCh37: Chr19:46057178 GRCh38: Chr19:45553920	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 158735493.	NM_025136.4(OPA3):c.426G>A (p.Ala142=) GRCh37: Chr19:46056886 GRCh38: Chr19:45553628	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Nov 18, 2021)	criteria provided, single submitter
Select item 158649194.	NM_025136.4(OPA3):c.363G>A (p.Ala121=) GRCh37: Chr19:46056949 GRCh38: Chr19:45553691	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Aug 29, 2021)	criteria provided, single submitter
Select item 158368995.	NM_025136.4(OPA3):c.327C>G (p.Arg109=) GRCh37: Chr19:46056985 GRCh38: Chr19:45553727	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 157634396.	NM_025136.4(OPA3):c.72C>T (p.Ala24=) GRCh37: Chr19:46087951 GRCh38: Chr19:45584693	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 157421197.	NM_025136.4(OPA3):c.6G>C (p.Val2=) GRCh37: Chr19:46088017 GRCh38: Chr19:45584759	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 156957898.	NM_025136.4(OPA3):c.303C>T (p.Tyr101=) GRCh37: Chr19:46057009 GRCh38: Chr19:45553751	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 156806399.	NM_025136.4(OPA3):c.246G>A (p.Glu82=) GRCh37: Chr19:46057066 GRCh38: Chr19:45553808	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 1558662100.	NM_025136.4(OPA3):c.40T>C (p.Leu14=) GRCh37: Chr19:46087983 GRCh38: Chr19:45584725	OPA3		3-Methylglutaconic aciduria type 3, Optic atrophy 3	Likely benign (Sep 1, 2021)	criteria provided, single submitter

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