ClinVar for MedGen (Select 1377817) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16871641.	NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys) GRCh37: Chr6:44272052 GRCh38: Chr6:44304315	AARS2, POLR1C	R625C	Combined oxidative phosphorylation defect type 8	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16854852.	NM_020745.4(AARS2):c.964C>T (p.Arg322Cys) GRCh37: Chr6:44275062 GRCh38: Chr6:44307325	AARS2, POLR1C	R322C	Combined oxidative phosphorylation defect type 8	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16854843.	NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe) GRCh37: Chr6:44274727 GRCh38: Chr6:44306990	AARS2, POLR1C	S361F	not provided, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Jun 12, 2022)	criteria provided, conflicting interpretations
Select item 16854834.	NM_020745.4(AARS2):c.2487+1G>C GRCh37: Chr6:44270127 GRCh38: Chr6:44302390	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16852255.	NM_020745.4(AARS2):c.790G>A (p.Val264Met) GRCh37: Chr6:44278140 GRCh38: Chr6:44310403	AARS2, POLR1C	V264M	Combined oxidative phosphorylation defect type 8	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 13684246.	NM_020745.4(AARS2):c.2561G>A (p.Arg854His) GRCh37: Chr6:44269834 GRCh38: Chr6:44302097	AARS2, POLR1C	R854H	Combined oxidative phosphorylation defect type 8, Inborn genetic diseases, not provided	Uncertain significance (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13398567.	GRCh37/hg19 6p21.1(chr6:44274357-44278496)x1 GRCh37: Chr6:44274357-44278496	AARS2		Combined oxidative phosphorylation defect type 8	not provided	no assertion provided
Select item 13220298.	NM_020745.4(AARS2):c.2255+1G>A GRCh37: Chr6:44270802 GRCh38: Chr6:44303065	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 11855509.	NM_020745.4(AARS2):c.2793+86_2793+87insCAGA GRCh37: Chr6:44268806-44268807 GRCh38: Chr6:44301069-44301070	AARS2, POLR1C		Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation defect type 8, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118535110.	NM_020745.4(AARS2):c.1041-29A>G GRCh37: Chr6:44274797 GRCh38: Chr6:44307060	AARS2, POLR1C		Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation defect type 8, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118535011.	NM_020745.4(AARS2):c.2255+35C>A GRCh37: Chr6:44270768 GRCh38: Chr6:44303031	AARS2, POLR1C		Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation defect type 8, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118534912.	NM_020745.4(AARS2):c.2598+117G>C GRCh37: Chr6:44269680 GRCh38: Chr6:44301943	AARS2, POLR1C		Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation defect type 8, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116814113.	NM_020745.4(AARS2):c.2683-20A>G GRCh37: Chr6:44269023 GRCh38: Chr6:44301286	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116420614.	NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) GRCh37: Chr6:44275011 GRCh38: Chr6:44307274	AARS2, POLR1C	I339V	Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation defect type 8, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106470015.	NM_020745.4(AARS2):c.845C>G (p.Ser282Cys) GRCh37: Chr6:44278085 GRCh38: Chr6:44310348	AARS2, POLR1C	S282C	Combined oxidative phosphorylation defect type 8	Pathogenic (Dec 25, 2020)	no assertion criteria provided
Select item 106469916.	NM_020745.4(AARS2):c.277C>T (p.Arg93Ter) GRCh37: Chr6:44279967 GRCh38: Chr6:44312230	AARS2, POLR1C	R93*	Combined oxidative phosphorylation defect type 8	Pathogenic (Dec 25, 2020)	no assertion criteria provided
Select item 103072717.	NM_020745.4(AARS2):c.649C>T (p.Pro217Ser) GRCh37: Chr6:44278831 GRCh38: Chr6:44311094	AARS2, POLR1C	P217S	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 103072618.	NM_020745.4(AARS2):c.472C>A (p.Gln158Lys) GRCh37: Chr6:44279236 GRCh38: Chr6:44311499	AARS2, POLR1C	Q158K	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jul 16, 2019)	criteria provided, single submitter
Select item 103072519.	NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) GRCh37: Chr6:44274262 GRCh38: Chr6:44306525	AARS2, POLR1C	A386V	Inborn genetic diseases, Leukoencephalopathy, progressive, with ovarian failure, not provided, Combined oxidative phosphorylation defect type 8	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93113620.	NM_020745.4(AARS2):c.459G>A (p.Trp153Ter) GRCh37: Chr6:44279249 GRCh38: Chr6:44311512	AARS2, POLR1C	W153*	Combined oxidative phosphorylation defect type 8	Likely pathogenic (Aug 17, 2019)	criteria provided, single submitter
Select item 93034521.	NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter) GRCh37: Chr6:44268358 GRCh38: Chr6:44300621	AARS2, POLR1C	Q962*	Combined oxidative phosphorylation defect type 8	Pathogenic (Jan 24, 2019)	criteria provided, single submitter
Select item 91224822.	NM_020745.4(AARS2):c.1788T>C (p.Cys596=) GRCh37: Chr6:44272235 GRCh38: Chr6:44304498	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91224723.	NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys) GRCh37: Chr6:44271920 GRCh38: Chr6:44304183	AARS2, POLR1C	Q669K	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91218124.	NM_020745.4(AARS2):c.2937C>G (p.Thr979=) GRCh37: Chr6:44268305 GRCh38: Chr6:44300568	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91218025.	NM_020745.4(AARS2):c.*51T>C GRCh37: Chr6:44268233 GRCh38: Chr6:44300496	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91211626.	NM_020745.4(AARS2):c.*1007A>G GRCh37: Chr6:44267277 GRCh38: Chr6:44299540	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91211527.	NM_020745.4(AARS2):c.*1045G>A GRCh37: Chr6:44267239 GRCh38: Chr6:44299502	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91211428.	NM_020745.4(AARS2):c.*1197C>T GRCh37: Chr6:44267087 GRCh38: Chr6:44299350	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91211329.	NM_020745.4(AARS2):c.*1293A>G GRCh37: Chr6:44266991 GRCh38: Chr6:44299254	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91211230.	NM_020745.4(AARS2):c.*1310T>C GRCh37: Chr6:44266974 GRCh38: Chr6:44299237	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91211131.	NM_020745.4(AARS2):c.*1326A>G GRCh37: Chr6:44266958 GRCh38: Chr6:44299221	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91129232.	NM_020745.4(AARS2):c.750-9C>T GRCh37: Chr6:44278189 GRCh38: Chr6:44310452	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91108633.	NM_020745.4(AARS2):c.940G>A (p.Glu314Lys) GRCh37: Chr6:44275086 GRCh38: Chr6:44307349	AARS2, POLR1C	E314K	Combined oxidative phosphorylation defect type 8, not provided	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 91108534.	NM_020745.4(AARS2):c.1041G>A (p.Pro347=) GRCh37: Chr6:44274768 GRCh38: Chr6:44307031	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91108435.	NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro) GRCh37: Chr6:44274760 GRCh38: Chr6:44307023	POLR1C, AARS2	L350P	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91101736.	NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr) GRCh37: Chr6:44270837 GRCh38: Chr6:44303100	AARS2, POLR1C	A741T	not provided, Combined oxidative phosphorylation defect type 8, Inborn genetic diseases	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91095737.	NM_020745.4(AARS2):c.*155C>T GRCh37: Chr6:44268129 GRCh38: Chr6:44300392	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91095638.	NM_020745.4(AARS2):c.*317G>A GRCh37: Chr6:44267967 GRCh38: Chr6:44300230	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91088839.	NM_020745.4(AARS2):c.*1471C>T GRCh37: Chr6:44266813 GRCh38: Chr6:44299076	POLR1C, AARS2		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91088740.	NM_020745.4(AARS2):c.*1473G>T GRCh37: Chr6:44266811 GRCh38: Chr6:44299074	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91088641.	NM_020745.4(AARS2):c.*1536G>C GRCh37: Chr6:44266748 GRCh38: Chr6:44299011	POLR1C, AARS2		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91019442.	NM_020745.4(AARS2):c.1191C>T (p.Ile397=) GRCh37: Chr6:44274126 GRCh38: Chr6:44306389	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 91012643.	NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser) GRCh37: Chr6:44270606 GRCh38: Chr6:44302869	AARS2, POLR1C	I766S	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 19, 2018)	criteria provided, single submitter
Select item 91005644.	NM_020745.4(AARS2):c.*448G>T GRCh37: Chr6:44267836 GRCh38: Chr6:44300099	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90915745.	NM_020745.4(AARS2):c.57G>C (p.Ser19=) GRCh37: Chr6:44281004 GRCh38: Chr6:44313267	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90915646.	NM_020745.4(AARS2):c.60C>T (p.Pro20=) GRCh37: Chr6:44281001 GRCh38: Chr6:44313264	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8, not provided	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 90830947.	NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) GRCh37: Chr6:44280979 GRCh38: Chr6:44313242	AARS2, POLR1C	R28G	Inborn genetic diseases, Combined oxidative phosphorylation defect type 8, not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90830848.	NM_020745.4(AARS2):c.426A>G (p.Glu142=) GRCh37: Chr6:44279818 GRCh38: Chr6:44312081	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90830749.	NM_020745.4(AARS2):c.435+9C>T GRCh37: Chr6:44279800 GRCh38: Chr6:44312063	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8, not provided	Conflicting interpretations of pathogenicity (Feb 26, 2022)	criteria provided, conflicting interpretations
Select item 90824650.	NM_020745.4(AARS2):c.1474T>C (p.Leu492=) GRCh37: Chr6:44272896 GRCh38: Chr6:44305159	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Mar 23, 2022)	criteria provided, conflicting interpretations
Select item 90824551.	NM_020745.4(AARS2):c.1533C>T (p.Asp511=) GRCh37: Chr6:44272837 GRCh38: Chr6:44305100	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 90817352.	NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp) GRCh37: Chr6:44269164 GRCh38: Chr6:44301427	AARS2, POLR1C	S879W	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90817253.	NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys) GRCh37: Chr6:44269129 GRCh38: Chr6:44301392	AARS2, POLR1C	E891K	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90817154.	NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly) GRCh37: Chr6:44268985 GRCh38: Chr6:44301248	AARS2, POLR1C	R901G	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90811055.	NM_020745.4(AARS2):c.*627G>A GRCh37: Chr6:44267657 GRCh38: Chr6:44299920	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90810956.	NM_020745.4(AARS2):c.*683C>G GRCh37: Chr6:44267601 GRCh38: Chr6:44299864	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90810857.	NM_020745.4(AARS2):c.*752G>C GRCh37: Chr6:44267532 GRCh38: Chr6:44299795	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87345858.	NM_020745.4(AARS2):c.2599-1G>A GRCh37: Chr6:44269202 GRCh38: Chr6:44301465	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Likely pathogenic	criteria provided, single submitter
Select item 80994359.	NM_020745.4(AARS2):c.679G>A (p.Asp227Asn) GRCh37: Chr6:44278801 GRCh38: Chr6:44311064	AARS2, POLR1C	D227N	not provided, Combined oxidative phosphorylation defect type 8	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80735660.	NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) GRCh37: Chr6:44269864 GRCh38: Chr6:44302127	AARS2, POLR1C	L844P	Combined oxidative phosphorylation defect type 8	Likely pathogenic (Nov 21, 2018)	criteria provided, single submitter
Select item 72178261.	NM_020745.4(AARS2):c.2683-10C>T GRCh37: Chr6:44269013 GRCh38: Chr6:44301276	POLR1C, AARS2		Combined oxidative phosphorylation defect type 8, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 63248762.	NM_020745.4(AARS2):c.1040+1G>A GRCh37: Chr6:44274985 GRCh38: Chr6:44307248	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 8, 2019)	criteria provided, single submitter
Select item 63248663.	NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter) GRCh37: Chr6:44273437 GRCh38: Chr6:44305700	AARS2, POLR1C	Q463*	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 30, 2018)	criteria provided, single submitter
Select item 63248564.	NM_020745.4(AARS2):c.2683-1G>T GRCh37: Chr6:44269004 GRCh38: Chr6:44301267	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Dec 13, 2018)	criteria provided, single submitter
Select item 62338765.	NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro) GRCh37: Chr6:44271141 GRCh38: Chr6:44303404	AARS2, POLR1C	Q676P	Combined oxidative phosphorylation defect type 8	Pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 52086166.	NM_020745.4(AARS2):c.2146-2A>G GRCh37: Chr6:44270914 GRCh38: Chr6:44303177	AARS2, POLR1C		Inborn genetic diseases, Combined oxidative phosphorylation defect type 8	Pathogenic/Likely pathogenic (Feb 26, 2020)	criteria provided, multiple submitters, no conflicts
Select item 51066567.	NM_020745.4(AARS2):c.1434+7G>A GRCh37: Chr6:44273383 GRCh38: Chr6:44305646	AARS2, POLR1C		not specified, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 48846168.	NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr) GRCh37: Chr6:44270547 GRCh38: Chr6:44302810	AARS2, POLR1C	A786T	Combined oxidative phosphorylation defect type 8	Pathogenic (Sep 8, 2017)	criteria provided, single submitter
Select item 38904269.	NM_020745.4(AARS2):c.2598+11G>A GRCh37: Chr6:44269786 GRCh38: Chr6:44302049	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8, not specified	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 35708470.	NM_020745.4(AARS2):c.22G>T (p.Ala8Ser) GRCh37: Chr6:44281039 GRCh38: Chr6:44313302	AARS2, POLR1C	A8S	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35708371.	NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) GRCh37: Chr6:44281036 GRCh38: Chr6:44313299	AARS2, POLR1C	A9T	not provided, Inborn genetic diseases, Combined oxidative phosphorylation defect type 8	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35708272.	NM_020745.4(AARS2):c.243+6G>A GRCh37: Chr6:44280812 GRCh38: Chr6:44313075	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35708173.	NM_020745.4(AARS2):c.408T>C (p.Asn136=) GRCh37: Chr6:44279836 GRCh38: Chr6:44312099	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35708074.	NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) GRCh37: Chr6:44278169 GRCh38: Chr6:44310432	AARS2, POLR1C	G254A	Combined oxidative phosphorylation defect type 8, not provided	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 35707975.	NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) GRCh37: Chr6:44278145 GRCh38: Chr6:44310408	AARS2, POLR1C	R262Q	Combined oxidative phosphorylation defect type 8, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (May 3, 2023)	criteria provided, conflicting interpretations
Select item 35707876.	NM_020745.4(AARS2):c.872C>T (p.Pro291Leu) GRCh37: Chr6:44278058 GRCh38: Chr6:44310321	AARS2, POLR1C	P291L	Combined oxidative phosphorylation defect type 8, not provided	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35707777.	NM_020745.4(AARS2):c.879C>T (p.Leu293=) GRCh37: Chr6:44278051 GRCh38: Chr6:44310314	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35707678.	NM_020745.4(AARS2):c.915C>T (p.Tyr305=) GRCh37: Chr6:44275111 GRCh38: Chr6:44307374	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35707579.	NM_020745.4(AARS2):c.967G>A (p.Val323Met) GRCh37: Chr6:44275059 GRCh38: Chr6:44307322	AARS2, POLR1C	V323M	Combined oxidative phosphorylation defect type 8, not provided	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35707480.	NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) GRCh37: Chr6:44275041 GRCh38: Chr6:44307304	AARS2, POLR1C	R329C	Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (May 13, 2019)	criteria provided, conflicting interpretations
Select item 35707381.	NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) GRCh37: Chr6:44274725 GRCh38: Chr6:44306988	AARS2, POLR1C	M362L	Combined oxidative phosphorylation defect type 8, not provided	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35707182.	NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp) GRCh37: Chr6:44272926 GRCh38: Chr6:44305189	AARS2, POLR1C	R482W	not provided, Combined oxidative phosphorylation defect type 8	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35707083.	NM_020745.4(AARS2):c.1534G>C (p.Asp512His) GRCh37: Chr6:44272836 GRCh38: Chr6:44305099	AARS2, POLR1C	D512H	not provided, Combined oxidative phosphorylation deficiency, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Apr 11, 2023)	criteria provided, conflicting interpretations
Select item 35706984.	NM_020745.4(AARS2):c.1569C>T (p.Ser523=) GRCh37: Chr6:44272801 GRCh38: Chr6:44305064	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8, not provided	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 35706885.	NM_020745.4(AARS2):c.1644C>T (p.Ser548=) GRCh37: Chr6:44272490 GRCh38: Chr6:44304753	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 35706786.	NM_020745.4(AARS2):c.1661G>A (p.Arg554His) GRCh37: Chr6:44272473 GRCh38: Chr6:44304736	AARS2, POLR1C	R554H	Combined oxidative phosphorylation defect type 8, Inborn genetic diseases, not provided	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35706687.	NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) GRCh37: Chr6:44272452 GRCh38: Chr6:44304715	AARS2, POLR1C	R561T	Inborn genetic diseases, Combined oxidative phosphorylation defect type 8	Uncertain significance (Jun 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35706588.	NM_020745.4(AARS2):c.1753-14C>G GRCh37: Chr6:44272284 GRCh38: Chr6:44304547	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35706489.	NM_020745.4(AARS2):c.2007+8C>T GRCh37: Chr6:44271910 GRCh38: Chr6:44304173	AARS2, POLR1C		not specified, not provided, Combined oxidative phosphorylation defect type 8	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35706390.	NM_020745.4(AARS2):c.2132G>A (p.Arg711His) GRCh37: Chr6:44271036 GRCh38: Chr6:44303299	AARS2, POLR1C	R711H	not provided, Combined oxidative phosphorylation defect type 8	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35706291.	NM_020745.4(AARS2):c.2146-11C>T GRCh37: Chr6:44270923 GRCh38: Chr6:44303186	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35706192.	NM_020745.4(AARS2):c.2202G>A (p.Leu734=) GRCh37: Chr6:44270856 GRCh38: Chr6:44303119	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35706093.	NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys) GRCh37: Chr6:44270637 GRCh38: Chr6:44302900	AARS2, POLR1C	R756C	not provided, Combined oxidative phosphorylation defect type 8	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35705994.	NM_020745.4(AARS2):c.2607G>A (p.Lys869=) GRCh37: Chr6:44269193 GRCh38: Chr6:44301456	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35705895.	NM_020745.4(AARS2):c.2679C>T (p.Leu893=) GRCh37: Chr6:44269121 GRCh38: Chr6:44301384	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (May 27, 2022)	criteria provided, conflicting interpretations
Select item 35705796.	NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser) GRCh37: Chr6:44268448 GRCh38: Chr6:44300711	AARS2, POLR1C	G932S	not provided, Combined oxidative phosphorylation defect type 8	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35705697.	NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr) GRCh37: Chr6:44268382 GRCh38: Chr6:44300645	AARS2, POLR1C	A954T	Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35705598.	NM_020745.4(AARS2):c.2871A>G (p.Ser957=) GRCh37: Chr6:44268371 GRCh38: Chr6:44300634	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8, Leukoencephalopathy, progressive, with ovarian failure	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35705499.	NM_020745.4(AARS2):c.*9C>T GRCh37: Chr6:44268275 GRCh38: Chr6:44300538	AARS2, POLR1C		not provided, Combined oxidative phosphorylation defect type 8	Conflicting interpretations of pathogenicity (Jan 27, 2021)	criteria provided, conflicting interpretations
Select item 357053100.	NM_020745.4(AARS2):c.*256A>G GRCh37: Chr6:44268028 GRCh38: Chr6:44300291	AARS2, POLR1C		Combined oxidative phosphorylation defect type 8	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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