Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)	SNV Germline	Chr11:126275389	Pathogenic	Mitochondrial complex I deficiency, nuclear type 19 Condition: not provided Leigh syndrome FOXRED1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA113792	rs_267606829	6 SubmittersRCV000000015 RCV000578659 RCV001194045 RCV003390625
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)	SNV Germline	Chr5:61073136	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 10 Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases Leigh syndrome not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115096	rs_137852863	7 SubmittersRCV000001661 RCV000779476 RCV000624428 RCV000679870 RCV000781647 RCV001582459
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	SNV Germline	Chr2:218661153	Pathogenic	Mitochondrial complex III deficiency nuclear type 1 Condition: not provided BCS1L-related disorder GRACILE syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Pili torti-deafness syndrome Leigh syndrome Pili torti-deafness syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Pili torti-deafness syndrome Autosomal recessive BCS1L-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA118015	rs_121908576	22 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989 RCV005016249 RCV006554428
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	SNV Germline	Chr2:218661846	Pathogenic	Pili torti-deafness syndrome Leigh syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome Pili torti-deafness syndrome Mitochondrial complex III deficiency nuclear type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118021	rs_121908577	7 SubmittersRCV000006545 RCV000779835 RCV001835622 RCV002243624 RCV002476937 RCV002512833
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	SNV Germline	Chr5:53646371	Pathogenic	Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118548	rs_104893898	8 SubmittersRCV000578296 RCV000735424 RCV002298437 RCV002307359
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)	SNV Germline	Chr11:68033147	Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 2 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118853	rs_28939679	3 SubmittersRCV000007941 RCV000442702 RCV000762861
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)	SNV Germline	Chr19:1391006	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 3 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118993	rs_104894705	12 SubmittersRCV000008120 RCV000197296 RCV003155020
NM_024407.5(NDUFS7):c.17-1167C>G	SNV Germline	Chr19:1386644	Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 3 Leigh syndrome	Criteria Provided Single Submitter	CA891844320	rs_1568985256	2 SubmittersRCV000008122 RCV002265550
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	SNV Germline	Chr5:251100	Likely pathogenic	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Leigh syndrome Condition: not provided Diffuse midline glioma, H3 K27-altered Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 SDHA-related disorder Pheochromocytoma/paraganglioma syndrome 5 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA119879	rs_9809219	13 SubmittersRCV000009281 RCV000456631 RCV000573113 RCV000790927 RCV001818148 RCV003315222 RCV003473060 RCV005031432 RCV005417425 RCV006554429 RCV006255129
NC_012920.1(MT-TV):m.1624C>T	SNV Germline	ChrMT:1624	Likely pathogenic	Leigh syndrome MELAS syndrome Leigh syndrome, mitochondrial Mitochondrial disease	Reviewed By Expert Panel	CA120537	rs_199476144	5 SubmittersRCV000010158 RCV000850667 RCV004554592 RCV005415393
NC_012920.1(MT-TK):m.8344A>G	SNV Germline	ChrMT:8344	Pathogenic	Leigh syndrome MERRF syndrome Parkinson disease, mitochondrial Condition: not provided Mitochondrial disease MT-TK-related mitochondrial disorder MELAS syndrome MT-TK-related disorder Complex hereditary spastic paraplegia Thrombocythemia 2 Primary mitochondrial disorders	Reviewed By Expert Panel	CA254836	rs_118192098	19 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV001729345 RCV000850950 RCV003492290 RCV004766996 RCV005862705 RCV006555292
NC_012920.1(MT-TK):m.8363G>A	SNV Germline	ChrMT:8363	Likely pathogenic	Cardiomyopathy and Deafness Leigh syndrome MERRF syndrome MELAS syndrome Mitochondrial disease MT-TK-related disorder	Reviewed By Expert Panel	CA120555	rs_118192100	6 SubmittersRCV000010197 RCV000144004 RCV000192053 RCV000850961 RCV003162232 RCV006554430
NC_012920.1(MT-TL1):m.3243A>G	SNV Germline/somatic	ChrMT:3243	Pathogenic	MELAS syndrome Age related macular degeneration 2 Mitochondrial complex IV deficiency, nuclear type 1 Cyclical vomiting syndrome MERRF/MELAS overlap syndrome 3-methylglutaconic aciduria type 1 Diabetes-deafness syndrome maternally transmitted Leigh syndrome Condition: not provided Stroke disorder Glucose intolerance Sensorineural hearing loss disorder Short stature Mitochondrial disease MERRF syndrome MELAS syndrome Cerebral palsy not specified See cases Leigh Syndrome (mtDNA mutation) Hypertrophic cardiomyopathy MELAS syndrome Diabetes-deafness syndrome maternally transmitted Auditory neuropathy spectrum disorder Maternally-inherited mitochondrial myopathy Leigh syndrome, mitochondrial Histiocytoid cardiomyopathy MT-TL1-related disorders	Reviewed By Expert Panel	CA120560	rs_199474657	39 SubmittersRCV000010206 RCV000010209 RCV000010211 RCV000010210 RCV000022902 RCV000022901 RCV000032997 RCV000143997 RCV000224855 RCV000626561 RCV000495738 RCV000763623 RCV001794441 RCV002285005 RCV002287327 RCV003325938 RCV003984803 RCV004766997 RCV004554593 RCV006258917 RCV006554431
NC_012920.1(MT-ATP6):m.8993T>C	SNV Germline	ChrMT:8993	Pathogenic	Leigh syndrome Ataxia and polyneuropathy, adult-onset Mitochondrial disease Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 NARP syndrome Condition: not provided Leber optic atrophy	Reviewed By Expert Panel	CA120596	rs_199476133	12 SubmittersRCV000010275 RCV000010276 RCV000495030 RCV000754647 RCV000854390 RCV001268873 RCV002247300
NC_012920.1(MT-ATP6):m.9176T>C	SNV Germline	ChrMT:9176	Pathogenic	Leigh syndrome Striatonigral degeneration, infantile, mitochondrial Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Condition: not provided Leber optic atrophy Maternally-inherited spastic paraplegia Mitochondrial disease Leigh syndrome, mitochondrial NARP syndrome MT-ATP6-related disorder Primary mitochondrial disorders	Reviewed By Expert Panel	CA120597	rs_199476135	16 SubmittersRCV000010279 RCV000010278 RCV000754652 RCV001027501 RCV001542707 RCV002251425 RCV002260585 RCV004554599 RCV004766998 RCV005867740 RCV006555302
NC_012920.1(MT-ATP6):m.9185T>C	SNV Germline	ChrMT:9185	Pathogenic	Leigh syndrome Charcot-Marie-Tooth disease Mitochondrial disease Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Leber optic atrophy Condition: not provided Mitochondrial DNA-Associated Leigh Syndrome and NARP Charcot-Marie-Tooth disease, type IA NARP syndrome Primary mitochondrial disorders	Reviewed By Expert Panel	CA340928	rs_199476138	18 SubmittersRCV000010282 RCV000240612 RCV000495689 RCV000754648 RCV001542709 RCV001267926 RCV002267606 RCV003224857 RCV004760325 RCV006555303
NC_012920.1(MT-ATP6):m.9176T>G	SNV Germline	ChrMT:9176	Likely pathogenic	Leigh syndrome Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Leber optic atrophy Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA340929	rs_199476135	6 SubmittersRCV000010285 RCV000754649 RCV001542708 RCV001543462 RCV002221473
NC_012920.1(MT-CO1):m.6480G>A	SNV Germline	ChrMT:6480	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Mitochondrial disease	Criteria Provided Conflicting Classifications	CA120611	rs_199476128	3 SubmittersRCV000010304 RCV000853974 RCV003985072
NC_012920.1(MT-CYB):m.15242G>A	SNV Germline	ChrMT:15242	Likely pathogenic	Mitochondrial encephalomyopathy Leigh syndrome Mitochondrial disease Primary mitochondrial disorders	Reviewed By Expert Panel	CA120618	rs_207459999	4 SubmittersRCV000010318 RCV000855252 RCV004691092 RCV006555305
NC_012920.1(MT-ND6):m.14484T>C	SNV Germline	ChrMT:14484	Pathogenic	Leber optic atrophy Leigh syndrome Condition: not provided Mitochondrial disease Retinal dystrophy Optic atrophy Leber optic atrophy and dystonia Primary mitochondrial disorders	Reviewed By Expert Panel	CA340932	rs_199476104	16 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238 RCV004814873 RCV004814874 RCV005867741 RCV006555306
NC_012920.1(MT-ND6):m.14453G>A	SNV Germline	ChrMT:14453	Likely pathogenic	MELAS syndrome Leigh syndrome Mitochondrial disease Primary mitochondrial disorders	Reviewed By Expert Panel	CA254853	rs_199476107	6 SubmittersRCV000010331 RCV000855109 RCV002260589 RCV006555308
NC_012920.1(MT-ND6):m.14487T>C	SNV Germline	ChrMT:14487	Pathogenic	Striatal necrosis, bilateral, with dystonia Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Leber optic atrophy Mitochondrial disease MELAS syndrome	Reviewed By Expert Panel	CA120627	rs_199476109	6 SubmittersRCV000010334 RCV000010333 RCV000144020 RCV002247307 RCV003162239 RCV005252673
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)	SNV Germline	ChrMT:12706	Likely pathogenic	Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA120628	rs_267606893	5 SubmittersRCV000010338 RCV000144015 RCV002247308 RCV002260591
NC_012920.1(MT-ND5):m.13513G>A	SNV Germline	ChrMT:13513	Pathogenic	Leigh syndrome due to mitochondrial complex I deficiency MELAS syndrome Leigh syndrome Condition: not provided Mitochondrial disease Primary mitochondrial disorders	Reviewed By Expert Panel	CA120632	rs_267606897	13 SubmittersRCV000010346 RCV000010345 RCV000144016 RCV000224472 RCV000494941 RCV006555309
NC_012920.1(MT-ND5):m.13042G>A	SNV Germline	ChrMT:13042	Likely pathogenic	MELAS syndrome MERRF syndrome Leigh syndrome due to mitochondrial complex I deficiency Leber optic atrophy Mitochondrial disease Primary mitochondrial disorders	Reviewed By Expert Panel	CA120633	rs_267606898	6 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592 RCV006555310
NC_012920.1(MT-ND4):m.11777C>A	SNV Germline	ChrMT:11777	Likely pathogenic	Mitochondrial complex I deficiency Leigh syndrome Leber optic atrophy Mitochondrial disease Leber optic atrophy and dystonia	Reviewed By Expert Panel	CA120636	rs_28384199	5 SubmittersRCV000010357 RCV000144013 RCV000854746 RCV002260594 RCV005252675
NC_012920.1(MT-ND3):m.10191T>C	SNV Germline	ChrMT:10191	Pathogenic	Mitochondrial complex I deficiency, mitochondrial type 1 Leigh syndrome Mitochondrial complex I deficiency Mitochondrial disease Primary mitochondrial disorders	Reviewed By Expert Panel	CA120637	rs_267606890	6 SubmittersRCV000010358 RCV000144010 RCV001542636 RCV002291212 RCV006555312
NC_012920.1(MT-ND3):m.10158T>C	SNV Germline	ChrMT:10158	Pathogenic	Mitochondrial complex I deficiency, mitochondrial type 1 Leigh syndrome Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA120639	rs_199476117	7 SubmittersRCV000010360 RCV000144009 RCV000224598 RCV001796716
NC_012920.1(MT-ND3):m.10197G>A	SNV Germline	ChrMT:10197	Pathogenic	Leber optic atrophy and dystonia Mitochondrial complex I deficiency, mitochondrial type 1 Leigh syndrome Condition: not provided Mitochondrial DNA-Associated Leigh Syndrome and NARP not specified Mitochondrial disease See cases Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy Primary mitochondrial disorders	Reviewed By Expert Panel	CA120640	rs_267606891	12 SubmittersRCV000010363 RCV000010362 RCV000144011 RCV000507278 RCV002247309 RCV002285008 RCV002291213 RCV004017234 RCV004767000 RCV006555313
NC_012920.1(MT-ND1):m.3460G>A	SNV Germline	ChrMT:3460	Pathogenic	Leber optic atrophy Leigh syndrome Condition: not provided MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 Mitochondrial disease Optic atrophy Leber optic atrophy and dystonia Primary mitochondrial disorders	Reviewed By Expert Panel	CA120646	rs_199476118	12 SubmittersRCV000010370 RCV000143998 RCV000757484 RCV000735416 RCV003319165 RCV004814877 RCV005867742 RCV006555314
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)	SNV Germline	Chr9:133352446	Pathogenic	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided Mitochondrial disease Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA122692	rs_121918657	6 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553 RCV005042037
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu)	SNV Germline	Chr9:133353893	Pathogenic	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Single Submitter	CA122697	rs_28933402	2 SubmittersRCV000013606 RCV001851829
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	SNV Germline	Chr11:67612225	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency Condition: not provided Mitochondrial complex I deficiency, nuclear type 4 Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123735	rs_121913659	14 SubmittersRCV000015100 RCV000200093 RCV000735412 RCV000763271 RCV002468969
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)	SNV Germline	Chr11:67608571	Pathogenic	Mitochondrial complex I deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA082750	rs_768050261	7 SubmittersRCV000015101 RCV000494645 RCV001420935
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)	SNV Germline	Chr11:67611511	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123737	rs_121913660	7 SubmittersRCV000015102 RCV001331688 RCV001851864 RCV003155025
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)	SNV Germline	Chr11:67610510	Pathogenic	Mitochondrial complex I deficiency, nuclear type 4 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123738	rs_121913661	4 SubmittersRCV000015103 RCV000497761 RCV003234905
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	SNV Germline	Chr15:65021533	Pathogenic	Combined oxidative phosphorylation defect type 15 Leigh syndrome Condition: not provided 6 conditions Mitochondrial complex I deficiency, nuclear type 27 Mitochondrial complex I deficiency, nuclear type 27 Combined oxidative phosphorylation defect type 15 See cases Inborn genetic diseases MTFMT-Related Disorders MTFMT-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130599	rs_201431517	21 SubmittersRCV000033047 RCV000190888 RCV000320667 RCV000415235 RCV000735417 RCV002477042 RCV002251943 RCV002513312 RCV005055532 RCV005256554
NC_012920.1(MT-ATP6):m.9191T>C	SNV Germline	ChrMT:9191	Likely pathogenic	Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA345914	rs_1556423632	2 SubmittersRCV000144006 RCV002221481
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	SNV Germline	Chr6:98899282	Pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Inborn genetic diseases Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA144886	rs_201889294	12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr6:98875673	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Mitochondrial encephalomyopathy Global developmental delay Condition: not provided Leigh syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA144891	rs_398123061	13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974
NM_001303.4(COX10):c.929-7C>T	SNV Germline	Chr17:14206803	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA203461	rs_62052075	8 SubmittersRCV000179820 RCV000265719 RCV000361435 RCV000676610
NM_001303.4(COX10):c.981C>T (p.Asn327=)	SNV Germline	Chr17:14206862	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA290460	rs_146175179	5 SubmittersRCV000124565 RCV000366250 RCV000302186 RCV000513362
NM_001303.4(COX10):c.1096G>T (p.Val366Leu)	SNV Germline	Chr17:14206977	Conflicting classifications of pathogenicity	not specified Condition: not provided Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Mitochondrial complex IV deficiency, nuclear type 3 Ovarian serous cystadenocarcinoma Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Lung cancer Cervical cancer Sarcoma	Criteria Provided Conflicting Classifications	CA290464	rs_111541535	7 SubmittersRCV000124567 RCV000961080 RCV001127831 RCV001127832 RCV001802947 RCV005890672 RCV005890673 RCV005890674 RCV005890669 RCV005890675 RCV005890670 RCV005890671
NM_001303.4(COX10):c.302C>T (p.Pro101Leu)	SNV Germline	Chr17:14076859	Conflicting classifications of pathogenicity	not specified Condition: not provided Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA290476	rs_145948285	4 SubmittersRCV000124573 RCV000975987 RCV001127736 RCV001127735
NM_001303.4(COX10):c.682C>T (p.Arg228Cys)	SNV Germline	Chr17:14159934	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA290480	rs_114521946	5 SubmittersRCV000124575 RCV000223992 RCV001124729 RCV001124728
NM_078470.6(COX15):c.-23G>T	SNV Germline	Chr10:99732072	Conflicting classifications of pathogenicity	not specified Leigh syndrome	Criteria Provided Conflicting Classifications	CA290482	rs_2231678	2 SubmittersRCV000124576 RCV001103675
NM_078470.6(COX15):c.988-8C>A	SNV Germline	Chr10:99716469	Conflicting classifications of pathogenicity	not specified Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA290484	rs_542092025	4 SubmittersRCV000124578 RCV000426006 RCV001106672
NM_000108.5(DLD):c.543A>T (p.Ile181=)	SNV Germline	Chr7:107905465	Conflicting classifications of pathogenicity	not specified Leigh syndrome Pyruvate dehydrogenase complex deficiency Condition: not provided Pyruvate dehydrogenase E3 deficiency	Criteria Provided Conflicting Classifications	CA303053	rs_61749952	12 SubmittersRCV000179714 RCV000261104 RCV000388010 RCV000676800 RCV000999887
NM_004544.4(NDUFA10):c.548-9A>G	SNV Germline	Chr2:240014869	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA292420	rs_147876332	5 SubmittersRCV000127100 RCV000275112 RCV000355965 RCV000676557
NM_005006.7(NDUFS1):c.421-7A>G	SNV Germline	Chr2:206147668	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided NDUFS1-related disorder	Criteria Provided Conflicting Classifications	CA292482	rs_192949406	7 SubmittersRCV000127139 RCV000296747 RCV000388644 RCV000888456 RCV004752752
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)	SNV Germline	Chr2:206138586	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency, nuclear type 5 Leigh syndrome NDUFS1-related disorder	Criteria Provided Conflicting Classifications	CA232547	rs_78042826	12 SubmittersRCV000195297 RCV000513877 RCV000605317 RCV001143218 RCV001282631 RCV001143217 RCV003925255
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	SNV Germline	Chr2:206138506	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 5 Gastric cancer Uterine carcinosarcoma Lung cancer Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Hepatocellular carcinoma Uterine corpus endometrial carcinoma Ovarian serous cystadenocarcinoma Thymoma Nonpapillary renal cell carcinoma Cervical cancer Clear cell carcinoma of kidney Malignant lymphoma, large B-cell, diffuse Colon adenocarcinoma Colorectal cancer Sarcoma	Criteria Provided Conflicting Classifications	CA292489	rs_2230892	7 SubmittersRCV000127145 RCV000399898 RCV000298259 RCV000676270 RCV001000338 RCV005886707 RCV005886709 RCV005886713 RCV005886711 RCV005886712 RCV005886699 RCV005886700 RCV005886714 RCV005886708 RCV005886710 RCV005886701 RCV005886702 RCV005886703 RCV005886704 RCV005886698 RCV005886705 RCV005886706
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)	SNV Germline	Chr11:47582432	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex I deficiency, nuclear type 8 Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA292502	rs_77113494	7 SubmittersRCV000127155 RCV000969794 RCV001000472 RCV001107482 RCV001107483
NM_004551.3(NDUFS3):c.628-7C>T	SNV Germline	Chr11:47584307	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided Mitochondrial complex I deficiency, nuclear type 8 NDUFS3-related disorder	Criteria Provided Conflicting Classifications	CA292504	rs_11039306	6 SubmittersRCV000127156 RCV000292090 RCV000383892 RCV000964320 RCV003114278 RCV004734666
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)	SNV Germline	Chr5:53603455	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA292505	rs_138941073	3 SubmittersRCV000127157 RCV000280441 RCV000386502 RCV000905987
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)	SNV Germline	Chr19:1388863	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA292511	rs_140236960	7 SubmittersRCV000127162 RCV000301558 RCV000365710 RCV000885712
NM_007103.4(NDUFV1):c.72+15G>T	SNV Germline	Chr11:67607091	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided NDUFV1-related disorder	Criteria Provided Conflicting Classifications	CA292522	rs_187400726	4 SubmittersRCV000127169 RCV000315626 RCV000372683 RCV002055710 RCV004532524
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)	SNV Germline	Chr17:10697492	Conflicting classifications of pathogenicity	not specified Condition: not provided Leigh syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA293431	rs_61753148	9 SubmittersRCV000128008 RCV000224328 RCV000330754 RCV006362072
NM_003172.4(SURF1):c.604G>C (p.Asp202His)	SNV Germline	Chr9:133352593	Conflicting classifications of pathogenicity	not specified Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA293830	rs_72619327	5 SubmittersRCV000128342 RCV000394086 RCV000999265
NM_004168.4(SDHA):c.969C>T (p.Gly323=)	SNV Germline	Chr5:233550	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 not specified Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Condition: not provided Pheochromocytoma/paraganglioma syndrome 5 Gastric cancer Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA345710	rs_142849100	18 SubmittersRCV000129664 RCV000203785 RCV000246464 RCV000314076 RCV000362684 RCV000399972 RCV001357190 RCV003315880 RCV005886903 RCV005886904
NM_004168.4(SDHA):c.512G>A (p.Arg171His)	SNV Germline/somatic	Chr5:225938	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Gastrointestinal stromal tumor Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Neoplasm	Criteria Provided Conflicting Classifications	CA166671	rs_587782076	9 SubmittersRCV000130572 RCV000466700 RCV000512840 RCV001153307 RCV001153308 RCV001153309 RCV001799623 RCV003474764 RCV004786391 RCV006273547
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SNV Germline	Chr5:223509	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5 Carney triad Condition: not provided Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Pilocytic astrocytoma Leigh syndrome Rhabdomyosarcoma Mitochondrial complex II deficiency, nuclear type 1 Gastrointestinal stromal tumor Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5 Neurodegeneration with ataxia and late-onset optic atrophy SDHA-related disorder Dilated cardiomyopathy 1GG Inherited phaeochromocytoma and paraganglioma excluding NF1 Intellectual disability Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA168793	rs_142441643	50 SubmittersRCV000131808 RCV000148026 RCV000170328 RCV000413945 RCV000627791 RCV000722034 RCV001089554 RCV001257553 RCV001762318 RCV001799624 RCV002478402 RCV003330507 RCV003335126 RCV003474779 RCV005865243 RCV005625311 RCV005859338
NC_012920.1(MT-ND1):m.3890G>A	SNV Germline	ChrMT:3890	Likely pathogenic	Leigh syndrome Mitochondrial disease not specified Primary mitochondrial disorders	Reviewed By Expert Panel	CA345911	rs_587776434	4 SubmittersRCV000144000 RCV002260617 RCV002285011 RCV006555482
NC_012920.1(MT-ND3):m.10254G>A	SNV Germline	ChrMT:10254	Likely pathogenic	Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA345916	rs_587776438	2 SubmittersRCV000144012 RCV005251082
NC_012920.1(MT-ND5):m.13514A>G	SNV Germline	ChrMT:13514	Likely pathogenic	Leigh syndrome Mitochondrial disease MELAS syndrome	Reviewed By Expert Panel	CA345918	rs_587776440	3 SubmittersRCV000144017 RCV002260618 RCV003333959
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)	SNV Germline	Chr10:133373332	Pathogenic/Likely pathogenic	Leigh syndrome Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA214804	rs_587776497	4 SubmittersRCV000144496 RCV000167581 RCV002515942
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)	SNV Germline	Chr10:133373329	Pathogenic	Leigh syndrome Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA214806	rs_587776498	7 SubmittersRCV000144497 RCV000167582 RCV000481050
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)	SNV Germline	Chr1:220126827	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA233272	rs_373436822	4 SubmittersRCV000144716 RCV000144955 RCV001334971
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)	SNV Germline	Chr1:220137990	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided not specified Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA233274	rs_143722284	8 SubmittersRCV000144717 RCV000144956 RCV000601238 RCV000986556
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	SNV Germline	Chr5:251427	Pathogenic/Likely pathogenic	Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA188615	rs_200397144	15 SubmittersRCV000148027 RCV000163558 RCV000464783 RCV000762143 RCV000765834 RCV001824123 RCV003474794 RCV005394505
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	SNV Germline	Chr7:107893260	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase complex deficiency Leigh syndrome Pyruvate dehydrogenase E3 deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA312448	rs_138002793	11 SubmittersRCV000317845 RCV000281549 RCV000376021 RCV000367820 RCV000487629
NM_000108.5(DLD):c.763A>C (p.Met255Leu)	SNV Germline	Chr7:107915584	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase complex deficiency Leigh syndrome Pyruvate dehydrogenase E3 deficiency	Criteria Provided Conflicting Classifications	CA312464	rs_533405046	5 SubmittersRCV000185855 RCV000298315 RCV000408335 RCV001086796
NM_000108.5(DLD):c.788G>A (p.Arg263His)	SNV Germline	Chr7:107915609	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E3 deficiency Condition: not provided Leigh syndrome Pyruvate dehydrogenase complex deficiency Inborn genetic diseases DLD-related disorder	Criteria Provided Conflicting Classifications	CA312466	rs_145670503	10 SubmittersRCV000653827 RCV000676803 RCV001161965 RCV001161966 RCV004020251 RCV004545876
NC_012920.1(MT-ND6):m.14597A>G	SNV Germline	ChrMT:14597	Likely pathogenic	Dystonic disorder Dysarthria Leigh syndrome not specified Mitochondrial disease	Reviewed By Expert Panel	CA250381	rs_797045055	4 SubmittersRCV000191107 RCV000855132 RCV002247618 RCV004791314
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)	SNV Germline	Chr2:206130196	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319780	rs_201806038	5 SubmittersRCV000195446 RCV001138793 RCV001138792 RCV002515413
NM_001079866.2(BCS1L):c.-43G>A	SNV Germline	Chr2:218660945	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome	Criteria Provided Conflicting Classifications	CA323137	rs_145989550	2 SubmittersRCV000198605 RCV000289306 RCV000341934 RCV000382259
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)	SNV Germline	Chr2:218661113	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex III deficiency nuclear type 1 Leigh syndrome GRACILE syndrome	Criteria Provided Conflicting Classifications	CA325107	rs_144200704	5 SubmittersRCV000200525 RCV000886562 RCV001140092 RCV001140093 RCV001140853
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)	SNV Germline	Chr2:218661911	Conflicting classifications of pathogenicity	not specified BCS1L-related disorder Condition: not provided Mitochondrial complex III deficiency nuclear type 1 Leigh syndrome GRACILE syndrome	Criteria Provided Conflicting Classifications	CA325212	rs_148278887	9 SubmittersRCV000200623 RCV000714568 RCV000949252 RCV001137961 RCV001137962 RCV001137963
NM_004544.4(NDUFA10):c.1000-3C>G	SNV Germline	Chr2:239961189	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA324354	rs_199648872	2 SubmittersRCV000199808 RCV000333603 RCV000388170
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)	SNV Germline	Chr2:240021253	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency, nuclear type 22 NDUFA10-related disorder	Criteria Provided Conflicting Classifications	CA325234	rs_140776586	5 SubmittersRCV000200645 RCV001141067 RCV001141068 RCV002470809 RCV003955191
NM_004544.4(NDUFA10):c.-38T>G	SNV Germline	Chr2:240025339	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA324598	rs_374970309	2 SubmittersRCV000200045 RCV001141189 RCV001141188
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)	SNV Germline	Chr2:43995941	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Inborn genetic diseases LRPPRC-related disorder	Criteria Provided Conflicting Classifications	CA324447	rs_200686732	9 SubmittersRCV000901776 RCV000986628 RCV001137778 RCV002517228 RCV003937736
NM_002495.4(NDUFS4):c.-6A>T	SNV Germline	Chr5:53560657	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 NDUFS4-related disorder	Criteria Provided Conflicting Classifications	CA323173	rs_73754255	4 SubmittersRCV000198638 RCV001151560 RCV001151559 RCV003917799
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)	SNV Germline	Chr5:53560672	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA325091	rs_185711494	3 SubmittersRCV000335188 RCV000960853 RCV001154576 RCV001154575
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)	SNV Germline	Chr5:53560675	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency Leigh syndrome Inborn genetic diseases NDUFS4-related disorder	Criteria Provided Conflicting Classifications	CA323413	rs_149323691	5 SubmittersRCV000198881 RCV000329830 RCV000295911 RCV000660466 RCV002517243 RCV003947635
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)	SNV Germline	Chr5:61073128	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA322323	rs_775605330	4 SubmittersRCV000197862 RCV001157922 RCV001157923 RCV002515408
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)	SNV Germline	Chr8:95035527	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 17 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA325074	rs_201732170	8 SubmittersRCV000412555 RCV001004883 RCV002517199
NM_003172.4(SURF1):c.889A>C (p.Thr297Pro)	SNV Germline	Chr9:133351927	Conflicting classifications of pathogenicity	not specified Leigh syndrome	Criteria Provided Conflicting Classifications	CA324187	rs_782620122	2 SubmittersRCV000199642 RCV002515441
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)	SNV Germline	Chr9:133352452	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA322228	rs_587669420	7 SubmittersRCV000699472 RCV001699229 RCV006452508
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	SNV Germline	Chr9:133352708	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 4K Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K Mitochondrial disease	Criteria Provided Multiple Submitters No Conflicts	CA215067	rs_782190413	7 SubmittersRCV000199387 RCV000202523 RCV000631410 RCV002492907 RCV003314575
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)	SNV Germline	Chr9:133352719	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome not specified Inborn genetic diseases Cholangiocarcinoma Lung cancer Cervical cancer	Criteria Provided Conflicting Classifications	CA321229	rs_200702528	6 SubmittersRCV000196814 RCV001215689 RCV002222439 RCV002517263 RCV005893555 RCV005893556 RCV005893554
NM_003172.4(SURF1):c.324-11T>G	SNV Germline	Chr9:133353951	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA323008	rs_375398247	8 SubmittersRCV000198496 RCV003152693 RCV003509513
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr)	SNV Germline	Chr9:133356414	Conflicting classifications of pathogenicity	not specified Leigh syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA323176	rs_863224224	4 SubmittersRCV000198640 RCV001853202 RCV004020427
NM_078470.6(COX15):c.929C>G (p.Pro310Arg)	SNV Germline	Chr10:99718404	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome COX15-related disorder Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Criteria Provided Conflicting Classifications	CA320228	rs_138293000	6 SubmittersRCV000195853 RCV000321049 RCV003927838 RCV004558441
NM_078470.6(COX15):c.164G>A (p.Arg55Lys)	SNV Germline	Chr10:99729661	Conflicting classifications of pathogenicity	not specified Leigh syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA321735	rs_777532861	4 SubmittersRCV000197287 RCV000291406 RCV002515389 RCV002517204
NM_017547.4(FOXRED1):c.86-1G>A	SNV Germline	Chr11:126271436	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial complex I deficiency, nuclear type 19 Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA320799	rs_768720209	4 SubmittersRCV000196380 RCV001090003 RCV006263748
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)	SNV Germline	Chr11:126277140	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency, nuclear type 19	Criteria Provided Conflicting Classifications	CA324443	rs_138061928	7 SubmittersRCV000199891 RCV000763714 RCV001107765 RCV005396586
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)	SNV Germline	Chr11:47579324	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA324576	rs_141187412	4 SubmittersRCV000200026 RCV001105706 RCV001105707 RCV002515417
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)	SNV Germline	Chr11:47582181	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided NDUFS3-related disorder Mitochondrial complex I deficiency, nuclear type 8	Criteria Provided Conflicting Classifications	CA320767	rs_148331180	8 SubmittersRCV000274500 RCV000331648 RCV000884571 RCV004530169 RCV005396588
NM_007103.4(NDUFV1):c.-45T>G	SNV Germline	Chr11:67606960	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome NDUFV1-related disorder	Criteria Provided Conflicting Classifications	CA320601	rs_373940385	3 SubmittersRCV000196176 RCV000274501 RCV000331800 RCV004541263
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)	SNV Germline	Chr11:67608473	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA324342	rs_11540012	4 SubmittersRCV000199787 RCV000285221 RCV000342561 RCV000676963
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr)	SNV Germline	Chr11:67609474	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex I deficiency, nuclear type 4 Leigh syndrome	Criteria Provided Conflicting Classifications	CA325310	rs_757486575	4 SubmittersRCV000200734 RCV003137782 RCV005055709
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)	SNV Germline	Chr11:67609490	Pathogenic/Likely pathogenic	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 4	Criteria Provided Multiple Submitters No Conflicts	CA321698	rs_750831299	5 SubmittersRCV000197256 RCV004586617 RCV004554745
NM_007103.4(NDUFV1):c.700+12C>T	SNV Germline	Chr11:67610582	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA320641	rs_200417926	3 SubmittersRCV000196215 RCV001104931 RCV001104932 RCV002517246
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys)	SNV Germline	Chr11:67611094	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 4 NDUFV1-related disorder	Criteria Provided Conflicting Classifications	CA320044	rs_141400889	9 SubmittersRCV000195680 RCV000294572 RCV000390228 RCV002517247 RCV004725050 RCV004734853
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)	SNV Germline	Chr11:68032155	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 2 NDUFS8-related disorder	Criteria Provided Conflicting Classifications	CA324025	rs_150278938	11 SubmittersRCV000726015 RCV000765008 RCV001108403 RCV002517245 RCV003458354 RCV003907737
NM_024407.5(NDUFS7):c.*16C>T	SNV Germline	Chr19:1395504	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA324673	rs_573586959	2 SubmittersRCV000200114 RCV001127321 RCV001126907
NM_003172.4(SURF1):c.106+1G>C	SNV Germline	Chr9:133356268	Likely pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA278935	rs_863224926	2 SubmittersRCV000196131
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)	SNV Germline	Chr11:68033254	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA277529	rs_764276946	3 SubmittersRCV000200148 RCV001853220
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)	SNV Germline	Chr5:230935	Conflicting classifications of pathogenicity	Skeletal myopathy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Pheochromocytoma/paraganglioma syndrome 5 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Condition: not provided Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA069792	rs_367721665	10 SubmittersRCV000208222 RCV000228322 RCV000411374 RCV000342145 RCV000283732 RCV000396726 RCV000570331 RCV002510820 RCV003474989 RCV005031782
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	SNV Germline	Chr5:223551	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Hereditary cancer-predisposing syndrome Hereditary renal cell carcinoma Condition: not provided not specified SDHA-related disorder	Criteria Provided Conflicting Classifications	CA358573	rs_140736646	16 SubmittersRCV000210508 RCV000347454 RCV000401643 RCV000410936 RCV000308179 RCV000572294 RCV000678682 RCV001355540 RCV003330583 RCV004530260
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)	SNV Germline	Chr5:236535	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA358579	rs_149875171	17 SubmittersRCV000210523 RCV000247565 RCV000570838 RCV001080809 RCV001157831 RCV001157833 RCV001157832 RCV003316163 RCV005396683
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)	SNV Germline	Chr5:218372	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA358571	rs_187964306	12 SubmittersRCV000216190 RCV000224380 RCV000282383 RCV000374489 RCV000349064 RCV000411625 RCV000573807 RCV001080211 RCV005396685
NM_004168.4(SDHA):c.822C>T (p.Gly274=)	SNV Germline	Chr5:230927	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma not specified Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma/paraganglioma syndrome 5 Lung cancer Colon adenocarcinoma Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Uterine corpus endometrial carcinoma Thyroid cancer, nonmedullary, 1 Nonpapillary renal cell carcinoma Clear cell carcinoma of kidney Thymoma Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA358575	rs_34771391	15 SubmittersRCV000210510 RCV000287211 RCV000317795 RCV000372488 RCV000426962 RCV000570502 RCV003736642 RCV003316165 RCV005893862 RCV005893853 RCV005893857 RCV005893858 RCV005893859 RCV005396686 RCV005893863 RCV005893861 RCV005893855 RCV005893856 RCV005893860 RCV005893854
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)	SNV Germline	Chr5:236472	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 not specified Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma/paraganglioma syndrome 5 Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA358583	rs_35964044	15 SubmittersRCV000210529 RCV000242588 RCV000376037 RCV000291485 RCV000346462 RCV000565630 RCV003114371 RCV003316166 RCV005396687
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)	SNV Germline	Chr5:236580	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 not specified Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Pheochromocytoma/paraganglioma syndrome 5 SDHA-related disorder Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA358577	rs_34779890	15 SubmittersRCV000210520 RCV000437200 RCV000562445 RCV001152356 RCV001152357 RCV001157834 RCV001579483 RCV003316168 RCV004541303 RCV005396689
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)	SNV Germline	Chr20:13816520	Pathogenic/Likely pathogenic	Inborn genetic diseases Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 16 Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA358016	rs_761389904	9 SubmittersRCV000210569 RCV000679869 RCV001507280 RCV001275555 RCV002517436
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)	SNV Germline	Chr5:228302	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA3172957	rs_571292356	9 SubmittersRCV000214276 RCV000230633 RCV000765826 RCV000663181 RCV003477750 RCV004567619
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)	SNV Germline	Chr5:256398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Condition: not provided not specified Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA3173475	rs_377632619	9 SubmittersRCV000217918 RCV000275247 RCV000333745 RCV000388419 RCV000649461 RCV000765836 RCV001775682 RCV001818525 RCV004567550 RCV005031795
NM_004168.4(SDHA):c.441C>T (p.Pro147=)	SNV Germline	Chr5:225547	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3172819	rs_201453889	5 SubmittersRCV000233726 RCV000332396 RCV000389166 RCV000274933 RCV000564203 RCV005420912 RCV005641560
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)	SNV Germline	Chr5:225548	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Dilated cardiomyopathy 1GG Condition: not provided Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG not specified	Criteria Provided Conflicting Classifications	CA3172820	rs_375576259	8 SubmittersRCV000228365 RCV000287726 RCV000345164 RCV000383376 RCV000572868 RCV003475076 RCV003477820 RCV005031816 RCV005055778
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)	SNV Germline	Chr5:230882	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Pheochromocytoma/paraganglioma syndrome 5 SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3172993	rs_140243793	7 SubmittersRCV000234552 RCV000567901 RCV001153421 RCV001153420 RCV001153422 RCV003430784 RCV005420919 RCV004541406
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)	SNV Germline	Chr5:251101	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5 Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome not specified Condition: not provided SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3173313	rs_376391115	9 SubmittersRCV000226282 RCV000565244 RCV000663186 RCV001153644 RCV001153645 RCV001153646 RCV002267990 RCV002253311 RCV004541404
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)	SNV Germline	Chr5:256404	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3173479	rs_191412461	14 SubmittersRCV000227636 RCV000409751 RCV000563763 RCV000998351 RCV001158017 RCV001158019 RCV001158018 RCV004529398
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)	SNV Germline	Chr9:133352696	Pathogenic	Leigh syndrome Condition: not provided SURF1-related disorder Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA10584085	rs_147816470	6 SubmittersRCV000235079 RCV000578885 RCV004554757 RCV005044488 RCV005890956
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)	SNV Germline	Chr5:233583	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Condition: not provided not specified Pheochromocytoma/paraganglioma syndrome 5 SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3173063	rs_144252500	12 SubmittersRCV000239366 RCV000570639 RCV001152241 RCV001152242 RCV001152243 RCV001705321 RCV001820792 RCV003316318 RCV004535211
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)	SNV Germline	Chr5:251063	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy	Criteria Provided Conflicting Classifications	CA3173306	rs_35502109	17 SubmittersRCV000239362 RCV000242066 RCV000569690 RCV001081440 RCV001153641 RCV001153642 RCV001153643 RCV003316319 RCV005396843
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)	SNV Germline	Chr5:224364	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 not specified Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Condition: not provided Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172744	rs_377470390	10 SubmittersRCV000239368 RCV000565564 RCV000764599 RCV001820793 RCV003313064 RCV003137852 RCV003475849 RCV005031828 RCV005420930
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)	SNV Germline	Chr5:256344	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 not specified	Criteria Provided Conflicting Classifications	CA3173461	rs_372480044	8 SubmittersRCV000239361 RCV000663177 RCV000574591 RCV000836807 RCV000765835 RCV004586651
NM_004168.4(SDHA):c.549C>T (p.Gly183=)	SNV Germline	Chr5:225975	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma/paraganglioma syndrome 5 Melanoma Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Sarcoma Ovarian serous cystadenocarcinoma Uterine corpus endometrial carcinoma Clear cell carcinoma of kidney Gastric cancer Uterine carcinosarcoma	Criteria Provided Conflicting Classifications	CA3172874	rs_61733344	17 SubmittersRCV000239367 RCV000291747 RCV000339713 RCV000394814 RCV000418051 RCV000571465 RCV001800618 RCV003316320 RCV005891079 RCV005396845 RCV005891075 RCV005891077 RCV005891080 RCV005891074 RCV005891076 RCV005891078
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)	SNV Germline	Chr5:233572	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3173058	rs_200526913	6 SubmittersRCV000239369 RCV000567963 RCV000765830 RCV002291613
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	SNV Germline	Chr20:13788652	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 16 Mitochondrial complex I deficiency Mitochondrial complex I deficiency, nuclear type 1 NDUFAF5-related disorder Leigh syndrome Sarcoma Uterine carcinosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA9767701	rs_150613320	14 SubmittersRCV000255420 RCV001266325 RCV001507283 RCV001833296 RCV001824717 RCV004757983 RCV004701358 RCV005895422 RCV005895423
NM_078470.6(COX15):c.396-3C>G	SNV Germline	Chr10:99727157	Conflicting classifications of pathogenicity	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Condition: not provided Leigh syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA5642274	rs_200910834	8 SubmittersRCV000006553 RCV000266470 RCV002469094 RCV005895477
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)	SNV Germline	Chr9:133352509	Pathogenic	Condition: not provided Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K	Criteria Provided Multiple Submitters No Conflicts	CA10603164	rs_782623477	5 SubmittersRCV000321649 RCV000631405 RCV005049509
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)	SNV Germline	Chr2:218661188	Conflicting classifications of pathogenicity	Leigh syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2109620	rs_142540289	5 SubmittersRCV000273790 RCV000313563 RCV000370613 RCV000376147
NM_001079866.2(BCS1L):c.321-12G>A	SNV Germline	Chr2:218661394	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2109643	rs_776363896	2 SubmittersRCV000285241 RCV000324948 RCV000382055 RCV003574755
NM_001079866.2(BCS1L):c.258T>C (p.His86=)	SNV Germline	Chr2:218661245	Conflicting classifications of pathogenicity	Leigh syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10612819	rs_886055627	4 SubmittersRCV000272188 RCV000330882 RCV000364504 RCV000982868
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=)	SNV Germline	Chr2:240014859	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2200958	rs_149783296	4 SubmittersRCV000301141 RCV000392325 RCV000613561 RCV002519957
NM_004544.4(NDUFA10):c.*647C>T	SNV Germline	Chr2:239960471	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10613273	rs_116254382	2 SubmittersRCV000268599 RCV000321400 RCV001797082
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	SNV Germline	Chr2:206132982	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome See cases Mitochondrial complex I deficiency, nuclear type 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2070426	rs_137889316	10 SubmittersRCV000348996 RCV000397471 RCV002252098 RCV001728094 RCV001861145 RCV004955438
NM_001079866.2(BCS1L):c.-14G>A	SNV Germline	Chr2:218660974	Conflicting classifications of pathogenicity	GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Leigh syndrome not specified	Criteria Provided Conflicting Classifications	CA2109591	rs_367721351	2 SubmittersRCV000340599 RCV000302189 RCV000395551 RCV000605569
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)	SNV Germline	Chr2:218662558	Conflicting classifications of pathogenicity	Mitochondrial complex III deficiency nuclear type 1 Leigh syndrome GRACILE syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2109753	rs_781666793	4 SubmittersRCV000279975 RCV000338686 RCV000394839 RCV000927961
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)	SNV Germline	Chr2:218662612	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex III deficiency nuclear type 1 not specified GRACILE syndrome Condition: not provided BCS1L-related disorder	Criteria Provided Conflicting Classifications	CA2109770	rs_112329020	5 SubmittersRCV000311482 RCV000351273 RCV000426045 RCV000401551 RCV000913045 RCV004732851
NM_004168.4(SDHA):c.723C>T (p.Asp241=)	SNV Germline	Chr5:228286	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy	Criteria Provided Conflicting Classifications	CA3172951	rs_146653693	17 SubmittersRCV000275715 RCV000334152 RCV000381733 RCV000457962 RCV000562470 RCV001529253 RCV001821078 RCV005420942 RCV005398480
NM_004168.4(SDHA):c.1092C>T (p.Val364=)	SNV Germline	Chr5:235171	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10620256	rs_886060515	3 SubmittersRCV000260734 RCV000316002 RCV000355512 RCV002446606 RCV004695857
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)	SNV Germline	Chr5:60945353	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3278067	rs_779872068	2 SubmittersRCV000294764 RCV000386723 RCV003278786
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)	SNV Germline	Chr5:61152859	Conflicting classifications of pathogenicity	Leigh syndrome Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA3278195	rs_770172045	2 SubmittersRCV000302238 RCV004649139 RCV000400065
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val)	SNV Germline	Chr5:61152867	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3278196	rs_749677218	3 SubmittersRCV000266885 RCV000359308 RCV001861260 RCV006362302
NM_000108.5(DLD):c.*1736T>C	SNV Germline	Chr7:107920995	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase complex deficiency Leigh syndrome	Criteria Provided Conflicting Classifications	CA10622985	rs_190655078	1 SubmittersRCV000283475 RCV000340859 RCV000380454
NM_004168.4(SDHA):c.-1C>T	SNV Germline	Chr5:218355	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172673	rs_560932680	7 SubmittersRCV000279041 RCV000317717 RCV000380480 RCV001013984 RCV003137969 RCV005033891
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)	SNV Germline	Chr5:251020	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Dilated cardiomyopathy 1GG Condition: not provided	Criteria Provided Conflicting Classifications	CA3173301	rs_766352407	5 SubmittersRCV000287976 RCV000352061 RCV000396802 RCV000461471 RCV001012256 RCV003475935 RCV006259883
NM_004168.4(SDHA):c.*133G>C	SNV Germline	Chr5:256553	Conflicting classifications of pathogenicity	Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA10624444	rs_193112615	1 SubmittersRCV000285270 RCV000334630 RCV000379866
NM_002495.4(NDUFS4):c.178-4G>C	SNV Germline	Chr5:53646229	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3264238	rs_200384843	2 SubmittersRCV000337873 RCV000395461 RCV002523527
NM_174889.5(NDUFAF2):c.128-14C>G	SNV Germline	Chr5:61073111	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3278114	rs_537327206	2 SubmittersRCV000399037 RCV000351951 RCV002520379
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)	SNV Germline	Chr5:61073193	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3278128	rs_769579395	2 SubmittersRCV000298358 RCV000336991 RCV003243110
NM_000108.5(DLD):c.1503G>A (p.Ala501=)	SNV Germline	Chr7:107919232	Conflicting classifications of pathogenicity	Leigh syndrome Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E3 deficiency	Criteria Provided Conflicting Classifications	CA4434735	rs_766286119	2 SubmittersRCV000282664 RCV000337641 RCV000376969
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)	SNV Germline	Chr7:107893234	Conflicting classifications of pathogenicity	Leigh syndrome Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase complex deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4434344	rs_61749951	3 SubmittersRCV000266066 RCV000321362 RCV000360727 RCV003168554
NM_000108.5(DLD):c.*470G>A	SNV Germline	Chr7:107919729	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase complex deficiency Leigh syndrome Pyruvate dehydrogenase E3 deficiency	Criteria Provided Conflicting Classifications	CA10627980	rs_111619940	1 SubmittersRCV000296036 RCV000348657 RCV000401807
NM_000108.5(DLD):c.1465-7C>G	SNV Germline	Chr7:107919187	Conflicting classifications of pathogenicity	Leigh syndrome Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E3 deficiency	Criteria Provided Conflicting Classifications	CA10628052	rs_886061908	2 SubmittersRCV000286136 RCV000322294 RCV000380507
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)	SNV Germline	Chr9:133354853	Conflicting classifications of pathogenicity	Leigh syndrome not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10629377	rs_147993882	6 SubmittersRCV000264670 RCV000507001 RCV001354540 RCV003168574
NM_007103.4(NDUFV1):c.326+12G>A	SNV Germline	Chr11:67608734	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided Gastric cancer	Criteria Provided Conflicting Classifications	CA6143135	rs_184136353	3 SubmittersRCV000307097 RCV000363981 RCV002056232 RCV005893010
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=)	SNV Germline	Chr11:67610476	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10631385	rs_886048589	2 SubmittersRCV000291492 RCV000343621 RCV003708510
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)	SNV Germline	Chr11:68033210	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146437	rs_748754134	2 SubmittersRCV000307867 RCV000344135 RCV000490220
NM_002496.4(NDUFS8):c.501+12C>G	SNV Germline	Chr11:68036393	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10631392	rs_372004236	2 SubmittersRCV000367973 RCV000390827 RCV002056233
NM_003172.4(SURF1):c.366C>T (p.Val122=)	SNV Germline	Chr9:133353898	Conflicting classifications of pathogenicity	Leigh syndrome	Criteria Provided Conflicting Classifications	CA10632727	rs_886063630	2 SubmittersRCV000268062
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)	SNV Germline	Chr11:47584469	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided NDUFS3-related disorder	Criteria Provided Conflicting Classifications	CA5978099	rs_117981655	4 SubmittersRCV000284678 RCV000406732 RCV000939941 RCV004544516
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)	SNV Germline	Chr11:67609491	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome not specified Condition: not provided NDUFV1-related disorder	Criteria Provided Conflicting Classifications	CA6143155	rs_140445386	4 SubmittersRCV000275192 RCV000367341 RCV000444047 RCV000880288 RCV004544517
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)	SNV Germline	Chr11:67610433	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6143212	rs_142982022	3 SubmittersRCV000321979 RCV000383441 RCV000523777
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=)	SNV Germline	Chr11:67611113	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6143291	rs_150859374	4 SubmittersRCV000351838 RCV000392952 RCV000885478
NM_007103.4(NDUFV1):c.843T>C (p.His281=)	SNV Germline	Chr11:67611137	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6143296	rs_766555879	2 SubmittersRCV000312468 RCV000355545 RCV000907358
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)	SNV Germline	Chr11:67611564	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided NDUFV1-related disorder	Criteria Provided Conflicting Classifications	CA6143373	rs_142499054	6 SubmittersRCV000265767 RCV000327949 RCV000761787 RCV004537723
NM_002496.4(NDUFS8):c.200-14C>T	SNV Germline	Chr11:68033097	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146422	rs_373128833	2 SubmittersRCV000342747 RCV000401109 RCV002520746
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)	SNV Germline	Chr11:68036339	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146535	rs_149201273	3 SubmittersRCV000308579 RCV000390917 RCV000907728
NM_002496.4(NDUFS8):c.502-10C>T	SNV Germline	Chr11:68036452	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome not specified Condition: not provided NDUFS8-related disorder	Criteria Provided Conflicting Classifications	CA6146557	rs_369961682	4 SubmittersRCV000260796 RCV000315895 RCV000602666 RCV000898642 RCV003950032
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)	SNV Germline	Chr11:68036557	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6146575	rs_1804688	4 SubmittersRCV000265926 RCV000356692 RCV001718621
NM_078470.6(COX15):c.582+14A>G	SNV Germline	Chr10:99726954	Conflicting classifications of pathogenicity	Leigh syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5642234	rs_79410539	3 SubmittersRCV000285899 RCV000443501 RCV001523675
NM_078470.6(COX15):c.1029C>A (p.Leu343=)	SNV Germline	Chr10:99716420	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5642109	rs_757725009	2 SubmittersRCV000374551 RCV003718156
NM_078470.6(COX15):c.255T>C (p.Ile85=)	SNV Germline	Chr10:99729570	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5642324	rs_147881961	3 SubmittersRCV000396573 RCV001672415
NM_004551.3(NDUFS3):c.657G>A (p.Val219=)	SNV Germline	Chr11:47584343	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5978068	rs_377323760	3 SubmittersRCV000325919 RCV000382544 RCV002056209
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)	SNV Germline	Chr17:10681157	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Mitochondrial complex IV deficiency, nuclear type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8393457	rs_139771078	7 SubmittersRCV000324448 RCV002061215 RCV003137923 RCV005268591
NM_001303.4(COX10):c.543G>A (p.Pro181=)	SNV Germline	Chr17:14102161	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided Uterine corpus endometrial carcinoma Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA8402358	rs_371273328	4 SubmittersRCV000328617 RCV000383020 RCV001564175 RCV005894577 RCV005894576
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=)	SNV Germline	Chr11:67611506	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6143362	rs_371426372	2 SubmittersRCV000267146 RCV000354895 RCV003765798
NM_007103.4(NDUFV1):c.1309-9C>T	SNV Germline	Chr11:67612363	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6143498	rs_374581520	2 SubmittersRCV000281538 RCV000387593 RCV000930807
NM_002496.4(NDUFS8):c.502-13C>T	SNV Germline	Chr11:68036449	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6146555	rs_199793417	3 SubmittersRCV000314847 RCV000369510 RCV000427186 RCV002056234
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)	SNV Germline	Chr11:47579292	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5977804	rs_770306617	3 SubmittersRCV000301677 RCV000358793 RCV000616791 RCV003765795
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)	SNV Germline	Chr11:67608601	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6143111	rs_199543483	5 SubmittersRCV000284822 RCV000393780 RCV000424374 RCV000939143
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=)	SNV Germline	Chr19:1390912	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9043328	rs_375120743	4 SubmittersRCV000307576 RCV000405173 RCV000891844
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=)	SNV Germline	Chr19:1395407	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10642357	rs_144570086	3 SubmittersRCV000274190 RCV000319795 RCV003765901
NM_001303.4(COX10):c.*646C>G	SNV Germline	Chr17:14207859	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10644889	rs_7214082	2 SubmittersRCV000347246 RCV000395029 RCV001778908
NM_001303.4(COX10):c.624+4A>G	SNV Germline	Chr17:14102246	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8402373	rs_199668725	7 SubmittersRCV000288666 RCV000343670 RCV000829183 RCV006342228
NM_001303.4(COX10):c.-24G>A	SNV Germline	Chr17:14069582	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8402192	rs_201257809	2 SubmittersRCV000279297 RCV000373740 RCV000827262
NM_001303.4(COX10):c.192G>A (p.Leu64=)	SNV Germline	Chr17:14076749	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8402269	rs_569444237	3 SubmittersRCV000262578 RCV000357092 RCV002522914
NM_001303.4(COX10):c.909C>T (p.Ala303=)	SNV Germline	Chr17:14192202	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8402460	rs_370260574	2 SubmittersRCV000349796 RCV000398956 RCV001636907
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)	SNV Germline	Chr19:1387815	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9043014	rs_201222388	2 SubmittersRCV000287249 RCV000400936 RCV003556343
NM_004168.4(SDHA):c.-7A>C	SNV Germline	Chr5:218349	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 not specified Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA3172666	rs_751633537	16 SubmittersRCV000411889 RCV000425129 RCV000649475 RCV000756629 RCV001151931 RCV001151932 RCV001151933 RCV002255377
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)	SNV Germline	Chr5:233636	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Hereditary cancer-predisposing syndrome Dilated cardiomyopathy 1GG Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA3173073	rs_199844384	13 SubmittersRCV000411606 RCV000463749 RCV000498298 RCV000563279 RCV000765832 RCV001153526 RCV001153527 RCV001153528 RCV003475997 RCV003483608 RCV005033927
NM_003172.4(SURF1):c.751+5G>A	SNV Germline	Chr9:133352441	Conflicting classifications of pathogenicity	Condition: not provided Muscle weakness Abnormal pyramidal sign Dysarthria Cerebellar ataxia Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K not specified	Criteria Provided Conflicting Classifications	CA16042683	rs_781934508	6 SubmittersRCV000413105 RCV000626843 RCV002283477 RCV002523941 RCV005044629 RCV005238967
NM_007103.4(NDUFV1):c.1162+4A>C	SNV Germline	Chr11:67611982	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 4 Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA6143415	rs_199683937	5 SubmittersRCV000015104 RCV000414504 RCV000763270 RCV001778956
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)	SNV Germline	Chr2:206147029	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided NDUFS1-related disorder	Criteria Provided Conflicting Classifications	CA2070717	rs_148544177	4 SubmittersRCV000419653 RCV001138898 RCV001138899 RCV002061445 RCV003950361
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)	SNV Germline	Chr2:218661470	Pathogenic/Likely pathogenic	Condition: not provided Leigh syndrome Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16604118	rs_1057521059	7 SubmittersRCV000432529 RCV001329213 RCV002285017 RCV004798833
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	SNV Germline	Chr2:218661158	Conflicting classifications of pathogenicity	not specified GRACILE syndrome Leigh syndrome Mitochondrial complex III deficiency nuclear type 1 Condition: not provided BCS1L-related disorder	Criteria Provided Conflicting Classifications	CA2109614	rs_756932413	4 SubmittersRCV000432338 RCV001140854 RCV001140856 RCV001140855 RCV001484726 RCV004539801
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)	SNV Germline	Chr2:206142757	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2070575	rs_112026097	3 SubmittersRCV000429059 RCV001143219 RCV001143220 RCV001512828
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)	SNV Germline	Chr2:218662561	Conflicting classifications of pathogenicity	not specified GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Leigh syndrome Condition: not provided BCS1L-related disorder	Criteria Provided Conflicting Classifications	CA2109755	rs_148302981	4 SubmittersRCV000438295 RCV001138378 RCV001138379 RCV001138380 RCV002521706 RCV004539845
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)	SNV Germline	Chr5:53603503	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3264190	rs_142368721	4 SubmittersRCV001157095 RCV001157096 RCV000906096
NM_000108.5(DLD):c.321A>G (p.Ala107=)	SNV Germline	Chr7:107903531	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E3 deficiency Leigh syndrome Pyruvate dehydrogenase complex deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4434418	rs_138398782	5 SubmittersRCV000898845 RCV001160216 RCV001163571 RCV001703709 RCV006268768
NM_004168.4(SDHA):c.895+13G>A	SNV Germline	Chr5:231013	Conflicting classifications of pathogenicity	not specified Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA3173017	rs_201461936	4 SubmittersRCV000440704 RCV000662985 RCV001157730 RCV001157731 RCV001157732 RCV002256236
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)	SNV Germline	Chr9:133352516	Pathogenic	Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16605403	rs_1057520688	2 SubmittersRCV000440906 RCV003619671
NM_003172.4(SURF1):c.240+1G>T	SNV Germline	Chr9:133354823	Pathogenic	Condition: not provided Leigh syndrome Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA16605409	rs_781948238	5 SubmittersRCV000422985 RCV001260417 RCV002502493
NM_003172.4(SURF1):c.833+3G>A	SNV Germline	Chr9:133352058	Conflicting classifications of pathogenicity	not specified Leigh syndrome	Criteria Provided Conflicting Classifications	CA16605652	rs_587699821	3 SubmittersRCV000428492 RCV002522381
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)	SNV Germline	Chr9:133354713	Pathogenic/Likely pathogenic	Condition: not provided Leigh syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16605654	rs_782024654	8 SubmittersRCV000437222 RCV001379593 RCV004022345
NM_007103.4(NDUFV1):c.155+12C>T	SNV Germline	Chr11:67608490	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6143092	rs_199963966	3 SubmittersRCV000444487 RCV001105992 RCV001105991 RCV002062380
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=)	SNV Germline	Chr11:67611125	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA6143295	rs_139299777	4 SubmittersRCV000917470 RCV001106100 RCV001106099
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)	SNV Germline	Chr11:67612226	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6143466	rs_147719815	3 SubmittersRCV000426011 RCV001105039 RCV001105040 RCV003766367
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)	SNV Germline	Chr11:68033166	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome NDUFS8-related disorder	Criteria Provided Conflicting Classifications	CA6146432	rs_144125742	8 SubmittersRCV000431887 RCV000676967 RCV001111479 RCV001111480 RCV003912624
NM_001303.4(COX10):c.93C>A (p.Asp31Glu)	SNV Germline	Chr17:14074372	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided COX10-related disorder	Criteria Provided Conflicting Classifications	CA8402242	rs_141481210	5 SubmittersRCV001125643 RCV001125644 RCV001718821 RCV003950347
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)	SNV Germline	Chr19:1388848	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9043125	rs_147710123	3 SubmittersRCV001127213 RCV001123144 RCV001698192
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)	SNV Germline	Chr5:240452	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Condition: not provided Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173266	rs_746453879	6 SubmittersRCV000473824 RCV000573305 RCV001152358 RCV001152359 RCV001152360 RCV003478054 RCV005421900
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)	SNV Germline	Chr5:233595	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided SDHA-related disorder Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173065	rs_201341132	6 SubmittersRCV000456689 RCV000563364 RCV001152244 RCV001152246 RCV001152245 RCV001310840 RCV004535493 RCV005421894
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)	SNV Germline	Chr5:233536	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Dilated cardiomyopathy 1GG Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 not specified Condition: not provided Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173042	rs_377509915	11 SubmittersRCV000462816 RCV000565889 RCV000765829 RCV001821296 RCV002272249 RCV003476127 RCV005421813
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)	SNV Germline	Chr5:251399	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173340	rs_758252610	5 SubmittersRCV000466412 RCV000561801 RCV001156240 RCV001156241 RCV001156242 RCV003478052 RCV005421878
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)	SNV Germline	Chr5:218360	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma and paraganglioma Condition: not provided Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA3172677	rs_780064103	8 SubmittersRCV000473246 RCV000569083 RCV001153198 RCV001153199 RCV001153200 RCV003225073 RCV004568122
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr6:98899281	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3933489	rs_754142863	5 SubmittersRCV000493951 RCV000501572 RCV000623300 RCV004782406
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)	SNV Germline	Chr16:1773083	Likely pathogenic	Leigh syndrome Combined oxidative phosphorylation deficiency 32	Criteria Provided Single Submitter	CA394244567	rs_1131692037	3 SubmittersRCV000494696 RCV000505523
NM_023936.1(MRPS34):c.321+1G>T	SNV Germline	Chr16:1772798	Pathogenic	Leigh syndrome Combined oxidative phosphorylation deficiency 32	No Assertion Criteria Provided	CA394243765	rs_1161932777	2 SubmittersRCV000585740 RCV000505529
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)	SNV Germline	Chr6:98899353	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA3933499	rs_773850151	7 SubmittersRCV000499421 RCV001591147 RCV004800434
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)	SNV Germline	Chr11:126275814	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6354204	rs_146661281	5 SubmittersRCV000514034 RCV000763713 RCV004023480
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)	SNV Germline	Chr17:14207172	Conflicting classifications of pathogenicity	Condition: not provided not specified Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 COX10-related disorder	Criteria Provided Conflicting Classifications	CA8402598	rs_113058506	9 SubmittersRCV000514768 RCV000603785 RCV001122054 RCV001122055 RCV003925530
NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	SNV Germline	Chr17:14076868	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 3	Criteria Provided Conflicting Classifications	CA8402295	rs_202207627	7 SubmittersRCV000521510 RCV001127738 RCV001127737 RCV002476049
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)	SNV Germline	Chr5:235267	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome SDHA-related disorder Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA3173134	rs_778667374	6 SubmittersRCV000541698 RCV001010227 RCV001156143 RCV001156144 RCV001157830 RCV004735622 RCV005422058 RCV006260216
NM_004168.4(SDHA):c.-2A>T	SNV Germline	Chr5:218354	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3172671	rs_763680697	5 SubmittersRCV000564955 RCV001151934 RCV001153197 RCV001153196 RCV003139877
NM_002495.4(NDUFS4):c.178-2A>G	SNV Germline	Chr5:53646231	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA359719528	rs_1554059248	1 SubmittersRCV000578463
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)	SNV Germline	Chr11:68036321	Likely pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381569172	rs_1267554976	2 SubmittersRCV000578254 RCV001815416
NM_003172.4(SURF1):c.752-1G>C	SNV Germline	Chr9:133352143	Pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375693588	rs_1391748504	4 SubmittersRCV000578241 RCV004592782
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)	SNV Germline	Chr5:61152896	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA3278200	rs_9885480	8 SubmittersRCV000602804 RCV000585479 RCV001152463 RCV001153733
NM_002495.4(NDUFS4):c.99-1G>A	SNV Germline	Chr5:53603451	Pathogenic	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided Mitochondrial disease Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA3264179	rs_376281345	8 SubmittersRCV000007294 RCV000588112 RCV003558447 RCV005357776 RCV005898611
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)	SNV Germline	Chr5:61098995	Pathogenic/Likely pathogenic	Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 10	Criteria Provided Multiple Submitters No Conflicts	CA3278149	rs_772294726	5 SubmittersRCV000587093 RCV001557146 RCV002497240
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)	SNV Germline	Chr10:99727098	Pathogenic/Likely pathogenic	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Leigh syndrome Condition: not provided See cases COX15-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5642259	rs_149718203	10 SubmittersRCV000033254 RCV000586150 RCV000599531 RCV002252173 RCV004757251
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	SNV Germline	Chr11:67611973	Pathogenic/Likely pathogenic	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 4 NDUFV1-related disorder Mitochondrial complex I deficiency, nuclear type	Criteria Provided Multiple Submitters No Conflicts	CA6143414	rs_536758576	13 SubmittersRCV000592779 RCV001731801 RCV001783094 RCV004530649 RCV004760638
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)	SNV Germline	Chr11:126277071	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Leigh syndrome Mitochondrial complex I deficiency, nuclear type 19	Criteria Provided Multiple Submitters No Conflicts	CA383231093	rs_1555066709	5 SubmittersRCV000598917 RCV002532695 RCV004586826 RCV005044897
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)	SNV Germline	Chr11:47584433	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided Gastric cancer	Criteria Provided Conflicting Classifications	CA5978089	rs_3740654	4 SubmittersRCV000614898 RCV001103853 RCV001103854 RCV002531615 RCV005899960
NM_004589.4(SCO1):c.411G>A (p.Gly137=)	SNV Germline	Chr17:10692915	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided SCO1-related disorder	Criteria Provided Conflicting Classifications	CA8393600	rs_371690301	5 SubmittersRCV001124450 RCV001124449 RCV001697873 RCV004544751
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser)	SNV Germline	Chr9:133352122	Pathogenic	Leigh syndrome	No Assertion Criteria Provided	CA200832091	rs_1053850536	1 SubmittersRCV000754102
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr)	SNV Germline	Chr9:133352750	Conflicting classifications of pathogenicity	Leigh syndrome	No Assertion Criteria Provided	CA375694077	rs_587753385	2 SubmittersRCV000754103
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)	SNV Germline	Chr8:95048461	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA371746474	rs_762620949	1 SubmittersRCV000626222
NM_004168.4(SDHA):c.558C>T (p.Ala186=)	SNV Germline	Chr5:225984	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172877	rs_199618059	4 SubmittersRCV000649483 RCV001155907 RCV001155908 RCV001155909 RCV002343344 RCV005422919
NM_003172.4(SURF1):c.588+1G>A	SNV Germline	Chr9:133352693	Pathogenic	Leigh syndrome Charcot-Marie-Tooth disease type 4K Leigh syndrome	Criteria Provided Single Submitter	CA375693956	rs_1219762677	2 SubmittersRCV000662348 RCV002530598
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)	SNV Germline	Chr7:107893215	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase complex deficiency Leigh syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4434339	rs_144038427	5 SubmittersRCV000701637 RCV001163784 RCV001163783 RCV001561816 RCV006268962
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)	SNV Germline	Chr5:53658555	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3264293	rs_747359752	4 SubmittersRCV000714799 RCV000714800 RCV002532977 RCV003558540
NM_003172.4(SURF1):c.833+1G>A	SNV Germline	Chr9:133352060	Pathogenic	Leigh syndrome not specified Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA375693425	rs_782609482	6 SubmittersRCV000735985 RCV000781906 RCV001784364 RCV002272341
NM_003172.4(SURF1):c.516-2A>G	SNV Germline	Chr9:133352768	Pathogenic	not specified Condition: not provided Leigh syndrome Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA200832536	rs_782682492	5 SubmittersRCV000780770 RCV001726326 RCV001242611 RCV005897395
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)	SNV Germline	Chr9:133353760	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375694143	rs_1564349087	1 SubmittersRCV000785948
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)	SNV Germline	Chr2:218662993	Conflicting classifications of pathogenicity	not specified Condition: not provided Leigh syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1	Criteria Provided Conflicting Classifications	CA2109810	rs_146731467	5 SubmittersRCV000825116 RCV000885856 RCV001140962 RCV001140960 RCV001140961
NC_012920.1(MT-ATP6):m.9035T>C	SNV Germline	ChrMT:9035	Likely pathogenic	Progressive cerebellar ataxia Leigh syndrome See cases Leber optic atrophy Mitochondrial disease MT-ATP6-related primary mitochondrial disease MT-ATP6-related disorder NARP syndrome Primary mitochondrial disorders	Reviewed By Expert Panel	CA414801955	rs_1603222000	11 SubmittersRCV000851177 RCV000854406 RCV001196557 RCV002249546 RCV002260672 RCV002466594 RCV005870934 RCV004768714 RCV006556754
NC_012920.1(MT-ND5):m.13094T>C	SNV Germline	ChrMT:13094	Pathogenic	MELAS syndrome Mitochondrial disease Leber optic atrophy Leigh syndrome, mitochondrial Primary mitochondrial disorders	Reviewed By Expert Panel	CA414816540	rs_1603224029	6 SubmittersRCV000854891 RCV002291219 RCV002249552 RCV005638538 RCV006556762
NC_012920.1(MT-ND5):m.13112T>C	SNV Germline	ChrMT:13112	Conflicting classifications of pathogenicity	Leigh syndrome	Criteria Provided Conflicting Classifications	CA414816577	rs_1603224043	2 SubmittersRCV000854896
NC_012920.1(MT-CYB):m.14924T>C	SNV Germline	ChrMT:14924	Conflicting classifications of pathogenicity	Leigh syndrome not specified	Criteria Provided Conflicting Classifications	CA913172462	rs_1603224966	2 SubmittersRCV000855184 RCV005436185
NC_012920.1(MT-ND1):m.3565A>G	SNV Germline	ChrMT:3565	Conflicting classifications of pathogenicity	Leigh syndrome Intellectual disability	Criteria Provided Conflicting Classifications	CA337096593	rs_2854133	2 SubmittersRCV000853677 RCV005626236
NC_012920.1(MT-ATP6):m.8609C>T	SNV Germline	ChrMT:8609	Conflicting classifications of pathogenicity	Leigh syndrome not specified	Criteria Provided Conflicting Classifications	CA414796911	rs_1603221634	2 SubmittersRCV000854258 RCV005436137
NM_003172.4(SURF1):c.321C>T (p.Ala107=)	SNV Germline	Chr9:133354661	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Thyroid cancer, nonmedullary, 1 Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA200833334	rs_141425824	4 SubmittersRCV000874503 RCV001593100 RCV005907154 RCV005907153
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)	SNV Germline	Chr5:256402	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173478	rs_768693502	4 SubmittersRCV000887554 RCV001013815 RCV001158014 RCV001158015 RCV001158016 RCV005427357
NM_078470.6(COX15):c.664C>T (p.Arg222Cys)	SNV Germline	Chr10:99724042	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome COX15-related disorder	Criteria Provided Conflicting Classifications	CA5642212	rs_2231682	4 SubmittersRCV000898890 RCV001108828 RCV003950526
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)	SNV Germline	Chr11:67610467	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA6143223	rs_151104852	3 SubmittersRCV000898339 RCV001103034 RCV001103033
NM_004589.4(SCO1):c.579G>T (p.Leu193=)	SNV Germline	Chr17:10691948	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 SCO1-related disorder Uterine corpus endometrial carcinoma	Criteria Provided Conflicting Classifications	CA8393553	rs_376145746	4 SubmittersRCV000906371 RCV001124446 RCV001124445 RCV004531046 RCV005907684
NM_001303.4(COX10):c.260C>T (p.Thr87Ile)	SNV Germline	Chr17:14076817	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA8402283	rs_144000161	4 SubmittersRCV000899247 RCV001127734 RCV001127733
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=)	SNV Germline	Chr5:53658560	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA3264294	rs_368876333	2 SubmittersRCV000911644 RCV001154689 RCV001154690
NM_007103.4(NDUFV1):c.432G>T (p.Val144=)	SNV Germline	Chr11:67609557	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA6143168	rs_144087607	2 SubmittersRCV000925053 RCV001108218 RCV001108219
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)	SNV Germline	Chr11:68032170	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA6146321	rs_142658611	7 SubmittersRCV000923575 RCV001103233 RCV001103232
NM_000108.5(DLD):c.375G>A (p.Glu125=)	SNV Germline	Chr7:107904995	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase complex deficiency Leigh syndrome	Criteria Provided Conflicting Classifications	CA4434451	rs_559057715	3 SubmittersRCV000928867 RCV001163572 RCV001163573
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)	SNV Germline	Chr20:13801633	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA9767833	rs_199543540	3 SubmittersRCV000944245 RCV001279574
NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)	SNV Germline	Chr2:206770181	Pathogenic	Leigh syndrome Combined oxidative phosphorylation deficiency 44 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2074979	rs_778120270	5 SubmittersRCV000984085 RCV001090022 RCV002508273
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr2:206141947	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 5	Criteria Provided Conflicting Classifications	CA2070515	rs_776114731	3 SubmittersRCV000986982 RCV001858657 RCV005603674
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)	SNV Unknown	Chr2:206147564	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA350061036	rs_747249702	1 SubmittersRCV000986985
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)	SNV Germline	Chr9:133354828	Pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA375694727	rs_1244071473	2 SubmittersRCV000988283
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)	SNV Germline	Chr11:67611060	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 4 Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA6143282	rs_755312472	5 SubmittersRCV000988584 RCV001869354 RCV005049723 RCV001104933
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)	SNV Germline	Chr11:67611945	Likely pathogenic	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 4	Criteria Provided Multiple Submitters No Conflicts	CA381541638	rs_1591111808	2 SubmittersRCV000988585 RCV005049724
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)	SNV Germline	Chr5:235256	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided Dilated cardiomyopathy 1GG SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3173130	rs_372989971	7 SubmittersRCV001010145 RCV001156140 RCV001156141 RCV001156142 RCV001238661 RCV003478607 RCV004569864 RCV004536047
NM_078470.6(COX15):c.495G>T (p.Leu165=)	SNV Germline	Chr10:99727055	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA471122730	rs_2036978379	2 SubmittersRCV001108830 RCV005093505
NM_078470.6(COX15):c.84A>G (p.Arg28=)	SNV Germline	Chr10:99731966	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5642380	rs_370595065	2 SubmittersRCV001103674 RCV002555014
NM_007103.3(NDUFV1):c.-74T>C	SNV Germline	Chr11:67606931	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA224171197	rs_373383800	2 SubmittersRCV001102922 RCV001102923 RCV001568735
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)	SNV Germline	Chr11:67612190	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA475511102	rs_1854932368	2 SubmittersRCV001103128 RCV001103129 RCV003669187
NM_078470.6(COX15):c.832+9C>T	SNV Germline	Chr10:99720978	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5642165	rs_777349150	2 SubmittersRCV001108826 RCV003769111
NM_007103.4(NDUFV1):c.1308+7A>T	SNV Germline	Chr11:67612272	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6143475	rs_767679135	2 SubmittersRCV001105041 RCV001105042 RCV002558047
NM_004589.4(SCO1):c.16C>T (p.Leu6=)	SNV Germline	Chr17:10697492	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8393733	rs_61753148	2 SubmittersRCV001124543 RCV001124544 RCV002558228
NM_001303.4(COX10):c.1305C>T (p.Gly435=)	SNV Germline	Chr17:14207186	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8402607	rs_199737206	2 SubmittersRCV001122056 RCV001122057 RCV002556626
NM_001303.4(COX10):c.*305A>G	SNV Germline	Chr17:14207518	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA288081256	rs_143758001	2 SubmittersRCV001124826 RCV001124825 RCV003405332
NM_001303.4(COX10):c.*904C>G	SNV Germline	Chr17:14208117	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA288081799	rs_75839697	1 SubmittersRCV001125912 RCV001125911
NM_001303.4(COX10):c.*1079G>A	SNV Germline	Chr17:14208292	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA288081928	rs_116445114	2 SubmittersRCV001122250 RCV001122251 RCV001779119
NM_001303.4(COX10):c.*1267A>G	SNV Germline	Chr17:14208480	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA288082058	rs_75844637	2 SubmittersRCV001122254 RCV001122255 RCV001786437
NM_001303.4(COX10):c.*1383G>A	SNV Germline	Chr17:14208596	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA288082146	rs_145948022	2 SubmittersRCV001125028 RCV001125029 RCV001836945
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)	SNV Germline	Chr19:1388868	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9043133	rs_565395435	3 SubmittersRCV001123146 RCV001123145 RCV002556658 RCV003339513
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)	SNV Germline	Chr19:1393311	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9043424	rs_757488156	3 SubmittersRCV001124231 RCV001124232 RCV001569783
NM_024407.5(NDUFS7):c.455+13C>T	SNV Germline	Chr19:1391178	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9043387	rs_376025020	2 SubmittersRCV001124228 RCV001124230 RCV002558225
NM_005006.7(NDUFS1):c.*426T>G	SNV Germline	Chr2:206123759	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA63645927	rs_114402169	2 SubmittersRCV001138693 RCV001138694 RCV001856776
NM_005006.7(NDUFS1):c.*341A>G	SNV Germline	Chr2:206123844	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA63645950	rs_150214409	2 SubmittersRCV001141271 RCV001141270 RCV001786443
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)	SNV Germline	Chr2:206126760	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases Leigh syndrome	Criteria Provided Conflicting Classifications	CA2070312	rs_769276632	2 SubmittersRCV001136552 RCV002558295 RCV001136551
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)	SNV Germline	Chr2:206144996	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2070657	rs_148726142	2 SubmittersRCV001136655 RCV001136656 RCV002556902
NM_005006.7(NDUFS1):c.63T>C (p.Val21=)	SNV Germline	Chr2:206152509	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2070912	rs_756632601	2 SubmittersRCV001143331 RCV001143332 RCV002070724
NM_005006.7(NDUFS1):c.-64T>C	SNV Germline	Chr2:206159400	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA63679006	rs_145023130	1 SubmittersRCV001138992 RCV001138991
NM_005006.7(NDUFS1):c.-75A>G	SNV Germline	Chr2:206159411	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA63679024	rs_138818421	3 SubmittersRCV001138995 RCV001138996 RCV003438669
NM_005006.7(NDUFS1):c.-76G>A	SNV Germline	Chr2:206159412	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA63679027	rs_116137442	2 SubmittersRCV001141606 RCV001141607 RCV001786444
NM_004544.4(NDUFA10):c.*2133A>G	SNV Germline	Chr2:239958985	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA68047691	rs_6736791	2 SubmittersRCV001139764 RCV001139765 RCV002221610
NM_004544.4(NDUFA10):c.*1930C>G	SNV Germline	Chr2:239959188	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA68047822	rs_535714073	1 SubmittersRCV001142384 RCV001142385
NM_004544.4(NDUFA10):c.*1453G>A	SNV Germline	Chr2:239959665	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA68048052	rs_192964209	1 SubmittersRCV001140649 RCV001140650
NM_004544.4(NDUFA10):c.*679A>G	SNV Germline	Chr2:239960439	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA68048533	rs_374065697	1 SubmittersRCV001140110 RCV001140109
NM_004544.4(NDUFA10):c.*428C>T	SNV Germline	Chr2:239960690	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA68048797	rs_557106858	1 SubmittersRCV001142724 RCV001142725
NM_004544.4(NDUFA10):c.*183C>T	SNV Germline	Chr2:239960935	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA68048980	rs_112660586	1 SubmittersRCV001138395 RCV001138396
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)	SNV Germline	Chr2:240014778	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2200936	rs_148656779	2 SubmittersRCV001138078 RCV001138079 RCV002070620
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=)	SNV Germline	Chr2:240021294	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2201077	rs_749199433	2 SubmittersRCV001141070 RCV001141069 RCV006612625
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)	SNV Germline	Chr2:240021303	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided NDUFA10-related disorder	Criteria Provided Conflicting Classifications	CA2201081	rs_118106981	4 SubmittersRCV001141071 RCV001141072 RCV002285448 RCV003928737
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)	SNV Germline	Chr2:240025261	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 22 Condition: not provided	Criteria Provided Conflicting Classifications	CA68073082	rs_928084265	4 SubmittersRCV001138192 RCV001138193 RCV004032319 RCV005394759 RCV006275057
NM_004168.4(SDHA):c.*249T>C	SNV Germline	Chr5:256669	Conflicting classifications of pathogenicity	Leigh syndrome Hereditary pheochromocytoma and paraganglioma Mitochondrial complex II deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA112784663	rs_189989110	1 SubmittersRCV001153830 RCV001153828 RCV001153829
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)	SNV Germline	Chr5:61152868	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3278197	rs_550008432	3 SubmittersRCV001152461 RCV001152462 RCV001712860
NM_004168.4(SDHA):c.896-11G>T	SNV Germline	Chr5:233466	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173036	rs_774043076	3 SubmittersRCV001157733 RCV001157735 RCV001157734 RCV002256692 RCV005423854
NM_000108.5(DLD):c.30C>A (p.Ser10=)	SNV Germline	Chr7:107891280	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E3 deficiency Leigh syndrome Pyruvate dehydrogenase complex deficiency	Criteria Provided Conflicting Classifications	CA164237587	rs_779166996	2 SubmittersRCV001163465 RCV001163467 RCV001163466
NM_000108.5(DLD):c.*1640A>G	SNV Germline	Chr7:107920899	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase complex deficiency Leigh syndrome	Criteria Provided Conflicting Classifications	CA164262766	rs_148148357	1 SubmittersRCV001164388 RCV001164389 RCV001164390
NM_000108.5(DLD):c.*1876G>A	SNV Germline	Chr7:107921135	Conflicting classifications of pathogenicity	Leigh syndrome Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E3 deficiency	Criteria Provided Conflicting Classifications	CA164262843	rs_142001971	1 SubmittersRCV001160821 RCV001160822 RCV001160823
NM_003172.4(SURF1):c.*47G>A	SNV Germline	Chr9:133351866	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200831828	rs_138050767	2 SubmittersRCV001165818 RCV001562775
NM_003172.4(SURF1):c.801G>A (p.Leu267=)	SNV Germline	Chr9:133352093	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200832054	rs_782120692	3 SubmittersRCV001165820 RCV003433068
NM_003172.4(SURF1):c.507C>T (p.Thr169=)	SNV Germline	Chr9:133353757	Conflicting classifications of pathogenicity	Leigh syndrome SURF1-related disorder	Criteria Provided Conflicting Classifications	CA200832954	rs_782614599	3 SubmittersRCV001168008 RCV004554848
NM_003172.4(SURF1):c.226T>C (p.Leu76=)	SNV Germline	Chr9:133354838	Conflicting classifications of pathogenicity	Leigh syndrome	Criteria Provided Conflicting Classifications	CA200833476	rs_782036327	2 SubmittersRCV001168782
NM_003172.4(SURF1):c.106+15C>G	SNV Germline	Chr9:133356254	Conflicting classifications of pathogenicity	Leigh syndrome	Criteria Provided Conflicting Classifications	CA200834037	rs_781892153	2 SubmittersRCV001165890
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)	SNV Germline	Chr9:133351982	Pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200831946	rs_782601312	2 SubmittersRCV001193157
NM_003172.4(SURF1):c.243C>G (p.Val81=)	SNV Germline	Chr9:133354739	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA860710379	rs_1277150134	2 SubmittersRCV001200195 RCV005094064
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)	SNV Germline	Chr8:95035493	Pathogenic/Likely pathogenic	Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 17 Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA4814749	rs_753873681	7 SubmittersRCV001249207 RCV001556391 RCV003152754 RCV005909194
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)	SNV Germline	Chr11:67611569	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency Condition: not provided Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA6143377	rs_201992354	5 SubmittersRCV001249206 RCV001267713 RCV001879751 RCV005909193
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)	SNV Germline	Chr20:13801528	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9767811	rs_200756131	2 SubmittersRCV001249209 RCV006466118
NM_024120.5(NDUFAF5):c.519+4A>G	SNV Germline	Chr20:13798504	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided not specified Mitochondrial complex I deficiency, nuclear type 16	Criteria Provided Conflicting Classifications	CA9767786	rs_373951216	5 SubmittersRCV001249208 RCV002570397 RCV001844279 RCV004762023
NC_012920.1(MT-ATP6):m.9155A>G	SNV Germline	ChrMT:9155	Likely pathogenic	Mitochondrial disease Leigh syndrome	Reviewed By Expert Panel	CA414802316	rs_2521964059	2 SubmittersRCV002291223 RCV002537703
NM_024120.5(NDUFAF5):c.480-3T>G	SNV Germline	Chr20:13798458	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 16 NDUFAF5-related disorder Ovarian serous cystadenocarcinoma Thymoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA9767782	rs_749288299	5 SubmittersRCV001279569 RCV001773584 RCV003469500 RCV004758155 RCV005910825 RCV005910826 RCV005910824
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)	SNV Germline	Chr20:13801583	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 16 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9767826	rs_141758325	6 SubmittersRCV001279573 RCV002480914 RCV002537856 RCV005623410
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)	SNV Germline	Chr5:53560742	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided not specified NDUFS4-related disorder	Criteria Provided Conflicting Classifications	CA3264147	rs_145347909	5 SubmittersRCV001328961 RCV002070156 RCV004587126 RCV004758160
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)	SNV Germline	Chr10:99727531	Pathogenic/Likely pathogenic	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5642300	rs_778412019	4 SubmittersRCV001331215 RCV002307728 RCV003738044
NM_017547.4(FOXRED1):c.734-1G>C	SNV Unknown	Chr11:126275793	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA383230297	rs_1296948086	1 SubmittersRCV001334927
NM_024996.7(GFM1):c.573-1G>C	SNV Germline	Chr3:158649040	Conflicting classifications of pathogenicity	Condition: not provided Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA355176176	rs_2108009356	6 SubmittersRCV001379654 RCV001831371 RCV005361584
NM_003172.4(SURF1):c.211G>T (p.Val71Leu)	SNV Germline	Chr9:133354853	Conflicting classifications of pathogenicity	Leigh syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA200833481	rs_147993882	3 SubmittersRCV001399689 RCV002552716 RCV003120601
NM_003172.4(SURF1):c.55-4G>C	SNV Germline	Chr9:133356324	Conflicting classifications of pathogenicity	Leigh syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200834056	rs_927604495	2 SubmittersRCV001419301 RCV003264033
NM_024120.5(NDUFAF5):c.223-907A>C	SNV Germline	Chr20:13786405	Pathogenic/Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 16 Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA741383974	rs_1186667603	3 SubmittersRCV001507284 RCV003738084 RCV006453694
NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)	SNV Germline	Chr9:133353773	Likely pathogenic	Condition: not provided Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA200832964	rs_782214884	3 SubmittersRCV001589557 RCV001866121 RCV003106238
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)	SNV Germline	Chr9:133351949	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375693354	rs_2119079745	1 SubmittersRCV001779460
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)	SNV Germline	Chr20:13801570	Pathogenic/Likely pathogenic	Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 16	Criteria Provided Multiple Submitters No Conflicts	CA9767821	rs_368690277	4 SubmittersRCV001779523 RCV002307759 RCV003470897
NM_139242.4(MTFMT):c.2T>C (p.Met1Thr)	SNV Germline	Chr15:65029612	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA271504928	rs_1023219835	2 SubmittersRCV001782463 RCV006249769
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)	SNV Germline	Chr9:133352707	Pathogenic/Likely pathogenic	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA200832499	rs_782021521	4 SubmittersRCV001797902 RCV002246514 RCV002503285
NM_003172.4(SURF1):c.703A>G (p.Met235Val)	SNV Germline	Chr9:133352494	Conflicting classifications of pathogenicity	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA375693698	rs_782437393	2 SubmittersRCV003107937 RCV001986990
NM_003172.4(SURF1):c.577C>T (p.Gln193Ter)	SNV Germline	Chr9:133352705	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375693983	rs_782420522	1 SubmittersRCV001902056
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)	SNV Germline	Chr9:133356301	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA375695075	rs_1187982748	4 SubmittersRCV001951384 RCV002275298 RCV004785417
NM_003172.4(SURF1):c.169G>A (p.Glu57Lys)	SNV Germline	Chr9:133354895	Conflicting classifications of pathogenicity	Leigh syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200833523	rs_782410389	2 SubmittersRCV001960044 RCV004042082
NM_003172.4(SURF1):c.538G>C (p.Gly180Arg)	SNV Germline	Chr9:133352744	Likely pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375694063	rs_1444801979	2 SubmittersRCV002027283 RCV005868543
NM_003172.4(SURF1):c.324-19T>G	SNV Germline	Chr9:133353959	Conflicting classifications of pathogenicity	Leigh syndrome not specified	Criteria Provided Conflicting Classifications	CA860709659	rs_369080027	2 SubmittersRCV002100210 RCV006453883
NM_017446.4(MRPL39):c.921+5G>A	SNV Germline	Chr21:25592807	Pathogenic/Likely pathogenic	Leigh syndrome Combined oxidative phosphorylation deficiency 59	No Assertion Criteria Provided	CA9985833	rs_375392547	2 SubmittersRCV002286587 RCV003445147
NM_017446.4(MRPL39):c.589-924G>A	SNV Germline	Chr21:25598338	Pathogenic	Leigh syndrome Combined oxidative phosphorylation deficiency 59 Mitochondrial disease	Criteria Provided Single Submitter	CA637178735	rs_1209423257	3 SubmittersRCV002286589 RCV003445149 RCV004785532
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)	SNV Germline	Chr9:133356432	Likely pathogenic	Leigh syndrome SURF1-related disorder	Criteria Provided Single Submitter	CA375695180	rs_1836590782	2 SubmittersRCV002222921 RCV004758881
NM_024120.5(NDUFAF5):c.519+2T>G	SNV Germline	Chr20:13798502	Likely pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA408270262	rs_2147534220	2 SubmittersRCV002223037 RCV003660912
NM_003172.4(SURF1):c.833+1G>C	SNV Germline	Chr9:133352060	Pathogenic/Likely pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA375693424	rs_782609482	2 SubmittersRCV002240096
NM_002495.4(NDUFS4):c.350+1G>A	SNV Germline	Chr5:53646406	Pathogenic/Likely pathogenic	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Colon adenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA359719915	rs_1260453815	6 SubmittersRCV002261480 RCV002307852 RCV003464420 RCV005930107
NM_024120.5(NDUFAF5):c.519+2T>C	SNV Germline	Chr20:13798502	Likely pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA408270261	rs_2147534220	2 SubmittersRCV002470127 RCV003708691
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)	SNV Germline	Chr11:67611030	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex I deficiency, nuclear type 4 Leigh syndrome	Criteria Provided Conflicting Classifications	CA224180719	rs_375897089	6 SubmittersRCV002474097 RCV003340498 RCV004587355
NM_003172.4(SURF1):c.589-1G>C	SNV Germline	Chr9:133352609	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375693947	rs_863224227	1 SubmittersRCV003058239
NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)	SNV Germline	Chr9:133352073	Pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200832031	rs_781967825	2 SubmittersRCV002585428
NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)	SNV Germline	Chr9:133352125	Pathogenic/Likely pathogenic	Leigh syndrome Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA375693551	rs_2490613891	2 SubmittersRCV002650257 RCV005042938
NM_003172.4(SURF1):c.751+1G>A	SNV Germline	Chr9:133352445	Pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA200832313	rs_782405164	2 SubmittersRCV002979667 RCV006281124
NM_015378.4(VPS13D):c.12662+1059C>G	SNV Germline	Chr1:12461455	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA2580060573	rs_2521974385	1 SubmittersRCV003110166
NM_003172.4(SURF1):c.187C>T (p.Gln63Ter)	SNV Germline	Chr9:133354877	Pathogenic	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA375694823	rs_2490623421	2 SubmittersRCV003110171 RCV006560995
NC_012920.1(MT-ND5):m.12923G>A	SNV Germline	ChrMT:12923	Likely pathogenic	Leigh syndrome MELAS syndrome Leber optic atrophy	Criteria Provided Single Submitter	CA414815506	rs_1603223971	1 SubmittersRCV003150916 RCV003150917 RCV003150918
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)	SNV Germline	Chr9:133352077	Pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200832039	rs_782076866	2 SubmittersRCV003155662
NM_002495.4(NDUFS4):c.350+1G>T	SNV Germline	Chr5:53646406	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA359719917	rs_1260453815	1 SubmittersRCV004594688
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)	SNV Germline	Chr11:126271616	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA6354012	rs_758408106	1 SubmittersRCV003226822
NM_003172.4(SURF1):c.3G>A (p.Met1Ile)	SNV Germline	Chr9:133356451	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375695219	rs_1442463591	1 SubmittersRCV003510923
NM_003172.4(SURF1):c.321C>A (p.Ala107=)	SNV Germline	Chr9:133354661	Conflicting classifications of pathogenicity	Leigh syndrome not specified	Criteria Provided Conflicting Classifications	CA860710214	rs_141425824	2 SubmittersRCV003511398 RCV005240816
NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)	SNV Germline	Chr9:133352086	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375693477	rs_781924765	1 SubmittersRCV003511461
NM_003172.4(SURF1):c.752-3C>G	SNV Germline	Chr9:133352145	Likely pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2695211584	rs_2490614044	2 SubmittersRCV003511462
NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)	SNV Germline	Chr9:133352557	Pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375693835	rs_2119081117	2 SubmittersRCV003511463 RCV005636972
NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)	SNV Germline	Chr9:133353903	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375694441	rs_2490620007	1 SubmittersRCV003620051
NM_003172.4(SURF1):c.240+1G>A	SNV Germline	Chr9:133354823	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375694712	rs_781948238	1 SubmittersRCV003621292
NM_003172.4(SURF1):c.588+1G>C	SNV Germline	Chr9:133352693	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375693955	rs_1219762677	1 SubmittersRCV003621468
NM_003172.4(SURF1):c.42G>A (p.Ala14=)	SNV Germline	Chr9:133356412	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA860712583	rs_1456292063	2 SubmittersRCV003621407 RCV004780621
NM_003172.4(SURF1):c.54+1G>A	SNV Germline	Chr9:133356399	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375695123	rs_1588693774	1 SubmittersRCV003619208
NM_003172.4(SURF1):c.1A>T (p.Met1Leu)	SNV Germline	Chr9:133356453	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375695225	rs_1836592105	1 SubmittersRCV003620271
NM_003172.4(SURF1):c.1A>G (p.Met1Val)	SNV Germline	Chr9:133356453	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375695224	rs_1836592105	1 SubmittersRCV003877555
NM_005006.7(NDUFS1):c.548T>G (p.Ile183Ser)	SNV Germline	Chr2:206147534	Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 5 Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2470066855	2 SubmittersRCV004594752 RCV006259577
NC_012920.1(MT-ND1):m.3457G>A	SNV Germline	ChrMT:3457	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005000561
NM_003172.4(SURF1):c.530T>G (p.Val177Gly)	SNV Germline	Chr9:133352752	Likely pathogenic	Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004690690
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)	SNV Germline	Chr10:99724109	Pathogenic/Likely pathogenic	Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004699825 RCV005023647
NM_024120.5(NDUFAF5):c.425A>C (p.Glu142Ala)	SNV Germline	Chr20:13794887	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004783321
NM_003172.4(SURF1):c.55-2A>G	SNV Germline	Chr9:133356322	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005170511
NM_003172.4(SURF1):c.837T>G (p.Tyr279Ter)	SNV Germline	Chr9:133351979	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005199465
NM_024407.5(NDUFS7):c.335C>T (p.Ala112Val)	SNV Germline	Chr19:1390977	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005859679
NM_003172.4(SURF1):c.370G>A (p.Gly124Arg)	SNV Germline	Chr9:133353894	Likely pathogenic	Melanoma Leigh syndrome	Criteria Provided Single Submitter			2 SubmittersRCV006022783 RCV006475212
NM_005006.7(NDUFS1):c.419A>G (p.Gln140Arg)	SNV Germline	Chr2:206147754	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006259815
NM_003172.4(SURF1):c.530T>C (p.Val177Ala)	SNV Germline	Chr9:133352752	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006505052
NM_003172.4(SURF1):c.784C>T (p.Gln262Ter)	SNV Germline	Chr9:133352110	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006516333
NM_003172.4(SURF1):c.833+1G>T	SNV Germline	Chr9:133352060	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006516825
NM_003172.4(SURF1):c.575G>C (p.Arg192Pro)	SNV Germline	Chr9:133352707	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006583750
NM_003172.4(SURF1):c.770G>A (p.Gly257Glu)	SNV Germline	Chr9:133352124	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006578910
NM_003172.4(SURF1):c.516-1G>C	SNV Germline	Chr9:133352767	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006633598

NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)

SNV
Germline

Chr11:126275389

Pathogenic

Mitochondrial complex I deficiency, nuclear type 19
Condition: not provided
Leigh syndrome
FOXRED1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA113792

rs_267606829

6 SubmittersRCV000000015 RCV000578659 RCV001194045 RCV003390625

NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)

SNV
Germline

Chr5:61073136

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 10
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115096

rs_137852863

7 SubmittersRCV000001661 RCV000779476 RCV000624428 RCV000679870 RCV000781647 RCV001582459

NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)

SNV
Germline

Chr2:218661153

Pathogenic

Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
BCS1L-related disorder
GRACILE syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Leigh syndrome
Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Autosomal recessive BCS1L-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA118015

rs_121908576

22 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989 RCV005016249 RCV006554428

NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)

SNV
Germline

Chr2:218661846

Pathogenic

Pili torti-deafness syndrome
Leigh syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118021

rs_121908577

7 SubmittersRCV000006545 RCV000779835 RCV001835622 RCV002243624 RCV002476937 RCV002512833

NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)

SNV
Germline

Chr5:53646371

Pathogenic

Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118548

rs_104893898

8 SubmittersRCV000578296 RCV000735424 RCV002298437 RCV002307359

NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)

SNV
Germline

Chr11:68033147

Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 2
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118853

rs_28939679

3 SubmittersRCV000007941 RCV000442702 RCV000762861

NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)

SNV
Germline

Chr19:1391006

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 3
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118993

rs_104894705

12 SubmittersRCV000008120 RCV000197296 RCV003155020

NM_024407.5(NDUFS7):c.17-1167C>G

SNV
Germline

Chr19:1386644

Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 3
Leigh syndrome

Criteria Provided
Single Submitter

CA891844320

rs_1568985256

2 SubmittersRCV000008122 RCV002265550

NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)

SNV
Germline

Chr5:251100

Likely pathogenic

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Condition: not provided
Diffuse midline glioma, H3 K27-altered
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA119879

rs_9809219

13 SubmittersRCV000009281 RCV000456631 RCV000573113 RCV000790927 RCV001818148 RCV003315222 RCV003473060 RCV005031432 RCV005417425 RCV006554429 RCV006255129

NC_012920.1(MT-TV):m.1624C>T

SNV
Germline

ChrMT:1624

Likely pathogenic

Leigh syndrome
MELAS syndrome
Leigh syndrome, mitochondrial
Mitochondrial disease

Reviewed By Expert Panel

CA120537

rs_199476144

5 SubmittersRCV000010158 RCV000850667 RCV004554592 RCV005415393

NC_012920.1(MT-TK):m.8344A>G

SNV
Germline

ChrMT:8344

Pathogenic

Leigh syndrome
MERRF syndrome
Parkinson disease, mitochondrial
Condition: not provided
Mitochondrial disease
MT-TK-related mitochondrial disorder
MELAS syndrome
MT-TK-related disorder
Complex hereditary spastic paraplegia
Thrombocythemia 2
Primary mitochondrial disorders

Reviewed By Expert Panel

CA254836

rs_118192098

19 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV001729345 RCV000850950 RCV003492290 RCV004766996 RCV005862705 RCV006555292

NC_012920.1(MT-TK):m.8363G>A

SNV
Germline

ChrMT:8363

Likely pathogenic

Cardiomyopathy and Deafness
Leigh syndrome
MERRF syndrome
MELAS syndrome
Mitochondrial disease
MT-TK-related disorder

Reviewed By Expert Panel

CA120555

rs_118192100

6 SubmittersRCV000010197 RCV000144004 RCV000192053 RCV000850961 RCV003162232 RCV006554430

NC_012920.1(MT-TL1):m.3243A>G

SNV
Germline/somatic

ChrMT:3243

Pathogenic

MELAS syndrome
Age related macular degeneration 2
Mitochondrial complex IV deficiency, nuclear type 1
Cyclical vomiting syndrome
MERRF/MELAS overlap syndrome
3-methylglutaconic aciduria type 1
Diabetes-deafness syndrome maternally transmitted
Leigh syndrome
Condition: not provided
Stroke disorder
Glucose intolerance
Sensorineural hearing loss disorder
Short stature
Mitochondrial disease
MERRF syndrome
MELAS syndrome
Cerebral palsy
not specified
See cases
Leigh Syndrome (mtDNA mutation)
Hypertrophic cardiomyopathy
MELAS syndrome
Diabetes-deafness syndrome maternally transmitted
Auditory neuropathy spectrum disorder
Maternally-inherited mitochondrial myopathy
Leigh syndrome, mitochondrial
Histiocytoid cardiomyopathy
MT-TL1-related disorders

Reviewed By Expert Panel

CA120560

rs_199474657

39 SubmittersRCV000010206 RCV000010209 RCV000010211 RCV000010210 RCV000022902 RCV000022901 RCV000032997 RCV000143997 RCV000224855 RCV000626561 RCV000495738 RCV000763623 RCV001794441 RCV002285005 RCV002287327 RCV003325938 RCV003984803 RCV004766997 RCV004554593 RCV006258917 RCV006554431

NC_012920.1(MT-ATP6):m.8993T>C

SNV
Germline

ChrMT:8993

Pathogenic

Leigh syndrome
Ataxia and polyneuropathy, adult-onset
Mitochondrial disease
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
NARP syndrome
Condition: not provided
Leber optic atrophy

Reviewed By Expert Panel

CA120596

rs_199476133

12 SubmittersRCV000010275 RCV000010276 RCV000495030 RCV000754647 RCV000854390 RCV001268873 RCV002247300

NC_012920.1(MT-ATP6):m.9176T>C

SNV
Germline

ChrMT:9176

Pathogenic

Leigh syndrome
Striatonigral degeneration, infantile, mitochondrial
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Leber optic atrophy
Maternally-inherited spastic paraplegia
Mitochondrial disease
Leigh syndrome, mitochondrial
NARP syndrome
MT-ATP6-related disorder
Primary mitochondrial disorders

Reviewed By Expert Panel

CA120597

rs_199476135

16 SubmittersRCV000010279 RCV000010278 RCV000754652 RCV001027501 RCV001542707 RCV002251425 RCV002260585 RCV004554599 RCV004766998 RCV005867740 RCV006555302

NC_012920.1(MT-ATP6):m.9185T>C

SNV
Germline

ChrMT:9185

Pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease
Mitochondrial disease
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Leber optic atrophy
Condition: not provided
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Charcot-Marie-Tooth disease, type IA
NARP syndrome
Primary mitochondrial disorders

Reviewed By Expert Panel

CA340928

rs_199476138

18 SubmittersRCV000010282 RCV000240612 RCV000495689 RCV000754648 RCV001542709 RCV001267926 RCV002267606 RCV003224857 RCV004760325 RCV006555303

NC_012920.1(MT-ATP6):m.9176T>G

SNV
Germline

ChrMT:9176

Likely pathogenic

Leigh syndrome
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Leber optic atrophy
Condition: not provided
Mitochondrial disease

Reviewed By Expert Panel

CA340929

rs_199476135

6 SubmittersRCV000010285 RCV000754649 RCV001542708 RCV001543462 RCV002221473

NC_012920.1(MT-CO1):m.6480G>A

SNV
Germline

ChrMT:6480

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial disease

Criteria Provided
Conflicting Classifications

CA120611

rs_199476128

3 SubmittersRCV000010304 RCV000853974 RCV003985072

NC_012920.1(MT-CYB):m.15242G>A

SNV
Germline

ChrMT:15242

Likely pathogenic

Mitochondrial encephalomyopathy
Leigh syndrome
Mitochondrial disease
Primary mitochondrial disorders

Reviewed By Expert Panel

CA120618

rs_207459999

4 SubmittersRCV000010318 RCV000855252 RCV004691092 RCV006555305

NC_012920.1(MT-ND6):m.14484T>C

SNV
Germline

ChrMT:14484

Pathogenic

Leber optic atrophy
Leigh syndrome
Condition: not provided
Mitochondrial disease
Retinal dystrophy
Optic atrophy
Leber optic atrophy and dystonia
Primary mitochondrial disorders

Reviewed By Expert Panel

CA340932

rs_199476104

16 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238 RCV004814873 RCV004814874 RCV005867741 RCV006555306

NC_012920.1(MT-ND6):m.14453G>A

SNV
Germline

ChrMT:14453

Likely pathogenic

MELAS syndrome
Leigh syndrome
Mitochondrial disease
Primary mitochondrial disorders

Reviewed By Expert Panel

CA254853

rs_199476107

6 SubmittersRCV000010331 RCV000855109 RCV002260589 RCV006555308

NC_012920.1(MT-ND6):m.14487T>C

SNV
Germline

ChrMT:14487

Pathogenic

Striatal necrosis, bilateral, with dystonia
Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome
Leber optic atrophy
Mitochondrial disease
MELAS syndrome

Reviewed By Expert Panel

CA120627

rs_199476109

6 SubmittersRCV000010334 RCV000010333 RCV000144020 RCV002247307 RCV003162239 RCV005252673

NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)

SNV
Germline

ChrMT:12706

Likely pathogenic

Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA120628

rs_267606893

5 SubmittersRCV000010338 RCV000144015 RCV002247308 RCV002260591

NC_012920.1(MT-ND5):m.13513G>A

SNV
Germline

ChrMT:13513

Pathogenic

Leigh syndrome due to mitochondrial complex I deficiency
MELAS syndrome
Leigh syndrome
Condition: not provided
Mitochondrial disease
Primary mitochondrial disorders

Reviewed By Expert Panel

CA120632

rs_267606897

13 SubmittersRCV000010346 RCV000010345 RCV000144016 RCV000224472 RCV000494941 RCV006555309

NC_012920.1(MT-ND5):m.13042G>A

SNV
Germline

ChrMT:13042

Likely pathogenic

MELAS syndrome
MERRF syndrome
Leigh syndrome due to mitochondrial complex I deficiency
Leber optic atrophy
Mitochondrial disease
Primary mitochondrial disorders

Reviewed By Expert Panel

CA120633

rs_267606898

6 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592 RCV006555310

NC_012920.1(MT-ND4):m.11777C>A

SNV
Germline

ChrMT:11777

Likely pathogenic

Mitochondrial complex I deficiency
Leigh syndrome
Leber optic atrophy
Mitochondrial disease
Leber optic atrophy and dystonia

Reviewed By Expert Panel

CA120636

rs_28384199

5 SubmittersRCV000010357 RCV000144013 RCV000854746 RCV002260594 RCV005252675

NC_012920.1(MT-ND3):m.10191T>C

SNV
Germline

ChrMT:10191

Pathogenic

Mitochondrial complex I deficiency, mitochondrial type 1
Leigh syndrome
Mitochondrial complex I deficiency
Mitochondrial disease
Primary mitochondrial disorders

Reviewed By Expert Panel

CA120637

rs_267606890

6 SubmittersRCV000010358 RCV000144010 RCV001542636 RCV002291212 RCV006555312

NC_012920.1(MT-ND3):m.10158T>C

SNV
Germline

ChrMT:10158

Pathogenic

Mitochondrial complex I deficiency, mitochondrial type 1
Leigh syndrome
Condition: not provided
Mitochondrial disease

Reviewed By Expert Panel

CA120639

rs_199476117

7 SubmittersRCV000010360 RCV000144009 RCV000224598 RCV001796716

NC_012920.1(MT-ND3):m.10197G>A

SNV
Germline

ChrMT:10197

Pathogenic

Leber optic atrophy and dystonia
Mitochondrial complex I deficiency, mitochondrial type 1
Leigh syndrome
Condition: not provided
Mitochondrial DNA-Associated Leigh Syndrome and NARP
not specified
Mitochondrial disease
See cases
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Primary mitochondrial disorders

Reviewed By Expert Panel

CA120640

rs_267606891

12 SubmittersRCV000010363 RCV000010362 RCV000144011 RCV000507278 RCV002247309 RCV002285008 RCV002291213 RCV004017234 RCV004767000 RCV006555313

NC_012920.1(MT-ND1):m.3460G>A

SNV
Germline

ChrMT:3460

Pathogenic

Leber optic atrophy
Leigh syndrome
Condition: not provided
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
Mitochondrial disease
Optic atrophy
Leber optic atrophy and dystonia
Primary mitochondrial disorders

Reviewed By Expert Panel

CA120646

rs_199476118

12 SubmittersRCV000010370 RCV000143998 RCV000757484 RCV000735416 RCV003319165 RCV004814877 RCV005867742 RCV006555314

NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr9:133352446

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Mitochondrial disease
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA122692

rs_121918657

6 SubmittersRCV000013599 RCV000589222 RCV000599426 RCV003314553 RCV005042037

NM_003172.4(SURF1):c.371G>A (p.Gly124Glu)

SNV
Germline

Chr9:133353893

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Single Submitter

CA122697

rs_28933402

2 SubmittersRCV000013606 RCV001851829

NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)

SNV
Germline

Chr11:67612225

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123735

rs_121913659

14 SubmittersRCV000015100 RCV000200093 RCV000735412 RCV000763271 RCV002468969

NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr11:67608571

Pathogenic

Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA082750

rs_768050261

7 SubmittersRCV000015101 RCV000494645 RCV001420935

NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)

SNV
Germline

Chr11:67611511

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123737

rs_121913660

7 SubmittersRCV000015102 RCV001331688 RCV001851864 RCV003155025

NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys)

SNV
Germline

Chr11:67610510

Pathogenic

Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123738

rs_121913661

4 SubmittersRCV000015103 RCV000497761 RCV003234905

NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)

SNV
Germline

Chr15:65021533

Pathogenic

Combined oxidative phosphorylation defect type 15
Leigh syndrome
Condition: not provided
6 conditions
Mitochondrial complex I deficiency, nuclear type 27
Mitochondrial complex I deficiency, nuclear type 27
Combined oxidative phosphorylation defect type 15
See cases
Inborn genetic diseases
MTFMT-Related Disorders
MTFMT-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130599

rs_201431517

21 SubmittersRCV000033047 RCV000190888 RCV000320667 RCV000415235 RCV000735417 RCV002477042 RCV002251943 RCV002513312 RCV005055532 RCV005256554

NC_012920.1(MT-ATP6):m.9191T>C

SNV
Germline

ChrMT:9191

Likely pathogenic

Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA345914

rs_1556423632

2 SubmittersRCV000144006 RCV002221481

NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)

SNV
Germline

Chr6:98899282

Pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome
Inborn genetic diseases
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA144886

rs_201889294

12 SubmittersRCV000056328 RCV000604628 RCV000622490 RCV001837446 RCV005237491

NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)

SNV
Germline

Chr6:98875673

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Mitochondrial encephalomyopathy
Global developmental delay
Condition: not provided
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA144891

rs_398123061

13 SubmittersRCV000056330 RCV000162170 RCV000224233 RCV003155062 RCV003242974

NM_001303.4(COX10):c.929-7C>T

SNV
Germline

Chr17:14206803

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA203461

rs_62052075

8 SubmittersRCV000179820 RCV000265719 RCV000361435 RCV000676610

NM_001303.4(COX10):c.981C>T (p.Asn327=)

SNV
Germline

Chr17:14206862

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA290460

rs_146175179

5 SubmittersRCV000124565 RCV000366250 RCV000302186 RCV000513362

NM_001303.4(COX10):c.1096G>T (p.Val366Leu)

SNV
Germline

Chr17:14206977

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex IV deficiency, nuclear type 3
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Melanoma
Acute myeloid leukemia
Lung cancer
Cervical cancer
Sarcoma

Criteria Provided
Conflicting Classifications

CA290464

rs_111541535

7 SubmittersRCV000124567 RCV000961080 RCV001127831 RCV001127832 RCV001802947 RCV005890672 RCV005890673 RCV005890674 RCV005890669 RCV005890675 RCV005890670 RCV005890671

NM_001303.4(COX10):c.302C>T (p.Pro101Leu)

SNV
Germline

Chr17:14076859

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA290476

rs_145948285

4 SubmittersRCV000124573 RCV000975987 RCV001127736 RCV001127735

NM_001303.4(COX10):c.682C>T (p.Arg228Cys)

SNV
Germline

Chr17:14159934

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290480

rs_114521946

5 SubmittersRCV000124575 RCV000223992 RCV001124729 RCV001124728

NM_078470.6(COX15):c.-23G>T

SNV
Germline

Chr10:99732072

Conflicting classifications of pathogenicity

not specified
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290482

rs_2231678

2 SubmittersRCV000124576 RCV001103675

NM_078470.6(COX15):c.988-8C>A

SNV
Germline

Chr10:99716469

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA290484

rs_542092025

4 SubmittersRCV000124578 RCV000426006 RCV001106672

NM_000108.5(DLD):c.543A>T (p.Ile181=)

SNV
Germline

Chr7:107905465

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Condition: not provided
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA303053

rs_61749952

12 SubmittersRCV000179714 RCV000261104 RCV000388010 RCV000676800 RCV000999887

NM_004544.4(NDUFA10):c.548-9A>G

SNV
Germline

Chr2:240014869

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292420

rs_147876332

5 SubmittersRCV000127100 RCV000275112 RCV000355965 RCV000676557

NM_005006.7(NDUFS1):c.421-7A>G

SNV
Germline

Chr2:206147668

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA292482

rs_192949406

7 SubmittersRCV000127139 RCV000296747 RCV000388644 RCV000888456 RCV004752752

NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)

SNV
Germline

Chr2:206138586

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 5
Leigh syndrome
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA232547

rs_78042826

12 SubmittersRCV000195297 RCV000513877 RCV000605317 RCV001143218 RCV001282631 RCV001143217 RCV003925255

NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)

SNV
Germline

Chr2:206138506

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 5
Gastric cancer
Uterine carcinosarcoma
Lung cancer
Thyroid cancer, nonmedullary, 1
Melanoma
Acute myeloid leukemia
Hepatocellular carcinoma
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thymoma
Nonpapillary renal cell carcinoma
Cervical cancer
Clear cell carcinoma of kidney
Malignant lymphoma, large B-cell, diffuse
Colon adenocarcinoma
Colorectal cancer
Sarcoma

Criteria Provided
Conflicting Classifications

CA292489

rs_2230892

7 SubmittersRCV000127145 RCV000399898 RCV000298259 RCV000676270 RCV001000338 RCV005886707 RCV005886709 RCV005886713 RCV005886711 RCV005886712 RCV005886699 RCV005886700 RCV005886714 RCV005886708 RCV005886710 RCV005886701 RCV005886702 RCV005886703 RCV005886704 RCV005886698 RCV005886705 RCV005886706

NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)

SNV
Germline

Chr11:47582432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 8
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA292502

rs_77113494

7 SubmittersRCV000127155 RCV000969794 RCV001000472 RCV001107482 RCV001107483

NM_004551.3(NDUFS3):c.628-7C>T

SNV
Germline

Chr11:47584307

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 8
NDUFS3-related disorder

Criteria Provided
Conflicting Classifications

CA292504

rs_11039306

6 SubmittersRCV000127156 RCV000292090 RCV000383892 RCV000964320 RCV003114278 RCV004734666

NM_002495.4(NDUFS4):c.102G>A (p.Ser34=)

SNV
Germline

Chr5:53603455

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292505

rs_138941073

3 SubmittersRCV000127157 RCV000280441 RCV000386502 RCV000905987

NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)

SNV
Germline

Chr19:1388863

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292511

rs_140236960

7 SubmittersRCV000127162 RCV000301558 RCV000365710 RCV000885712

NM_007103.4(NDUFV1):c.72+15G>T

SNV
Germline

Chr11:67607091

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA292522

rs_187400726

4 SubmittersRCV000127169 RCV000315626 RCV000372683 RCV002055710 RCV004532524

NM_004589.4(SCO1):c.16C>G (p.Leu6Val)

SNV
Germline

Chr17:10697492

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA293431

rs_61753148

9 SubmittersRCV000128008 RCV000224328 RCV000330754 RCV006362072

NM_003172.4(SURF1):c.604G>C (p.Asp202His)

SNV
Germline

Chr9:133352593

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293830

rs_72619327

5 SubmittersRCV000128342 RCV000394086 RCV000999265

NM_004168.4(SDHA):c.969C>T (p.Gly323=)

SNV
Germline

Chr5:233550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
not specified
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
Gastric cancer
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA345710

rs_142849100

18 SubmittersRCV000129664 RCV000203785 RCV000246464 RCV000314076 RCV000362684 RCV000399972 RCV001357190 RCV003315880 RCV005886903 RCV005886904

NM_004168.4(SDHA):c.512G>A (p.Arg171His)

SNV
Germline/somatic

Chr5:225938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Gastrointestinal stromal tumor
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Neoplasm

Criteria Provided
Conflicting Classifications

CA166671

rs_587782076

9 SubmittersRCV000130572 RCV000466700 RCV000512840 RCV001153307 RCV001153308 RCV001153309 RCV001799623 RCV003474764 RCV004786391 RCV006273547

NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr5:223509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Carney triad
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Pilocytic astrocytoma
Leigh syndrome
Rhabdomyosarcoma
Mitochondrial complex II deficiency, nuclear type 1
Gastrointestinal stromal tumor
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
SDHA-related disorder
Dilated cardiomyopathy 1GG
Inherited phaeochromocytoma and paraganglioma excluding NF1
Intellectual disability
Hereditary pheochromocytoma and paraganglioma

Criteria Provided
Conflicting Classifications

CA168793

rs_142441643

50 SubmittersRCV000131808 RCV000148026 RCV000170328 RCV000413945 RCV000627791 RCV000722034 RCV001089554 RCV001257553 RCV001762318 RCV001799624 RCV002478402 RCV003330507 RCV003335126 RCV003474779 RCV005865243 RCV005625311 RCV005859338

NC_012920.1(MT-ND1):m.3890G>A

SNV
Germline

ChrMT:3890

Likely pathogenic

Leigh syndrome
Mitochondrial disease
not specified
Primary mitochondrial disorders

Reviewed By Expert Panel

CA345911

rs_587776434

4 SubmittersRCV000144000 RCV002260617 RCV002285011 RCV006555482

NC_012920.1(MT-ND3):m.10254G>A

SNV
Germline

ChrMT:10254

Likely pathogenic

Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA345916

rs_587776438

2 SubmittersRCV000144012 RCV005251082

NC_012920.1(MT-ND5):m.13514A>G

SNV
Germline

ChrMT:13514

Likely pathogenic

Leigh syndrome
Mitochondrial disease
MELAS syndrome

Reviewed By Expert Panel

CA345918

rs_587776440

3 SubmittersRCV000144017 RCV002260618 RCV003333959

NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr10:133373332

Pathogenic/Likely pathogenic

Leigh syndrome
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214804

rs_587776497

4 SubmittersRCV000144496 RCV000167581 RCV002515942

NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)

SNV
Germline

Chr10:133373329

Pathogenic

Leigh syndrome
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214806

rs_587776498

7 SubmittersRCV000144497 RCV000167582 RCV000481050

NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)

SNV
Germline

Chr1:220126827

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA233272

rs_373436822

4 SubmittersRCV000144716 RCV000144955 RCV001334971

NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)

SNV
Germline

Chr1:220137990

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
not specified
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA233274

rs_143722284

8 SubmittersRCV000144717 RCV000144956 RCV000601238 RCV000986556

NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)

SNV
Germline

Chr5:251427

Pathogenic/Likely pathogenic

Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA188615

rs_200397144

15 SubmittersRCV000148027 RCV000163558 RCV000464783 RCV000762143 RCV000765834 RCV001824123 RCV003474794 RCV005394505

NM_000108.5(DLD):c.100A>G (p.Thr34Ala)

SNV
Germline

Chr7:107893260

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase complex deficiency
Leigh syndrome
Pyruvate dehydrogenase E3 deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312448

rs_138002793

11 SubmittersRCV000317845 RCV000281549 RCV000376021 RCV000367820 RCV000487629

NM_000108.5(DLD):c.763A>C (p.Met255Leu)

SNV
Germline

Chr7:107915584

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase complex deficiency
Leigh syndrome
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA312464

rs_533405046

5 SubmittersRCV000185855 RCV000298315 RCV000408335 RCV001086796

NM_000108.5(DLD):c.788G>A (p.Arg263His)

SNV
Germline

Chr7:107915609

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Condition: not provided
Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases
DLD-related disorder

Criteria Provided
Conflicting Classifications

CA312466

rs_145670503

10 SubmittersRCV000653827 RCV000676803 RCV001161965 RCV001161966 RCV004020251 RCV004545876

NC_012920.1(MT-ND6):m.14597A>G

SNV
Germline

ChrMT:14597

Likely pathogenic

Dystonic disorder
Dysarthria
Leigh syndrome
not specified
Mitochondrial disease

Reviewed By Expert Panel

CA250381

rs_797045055

4 SubmittersRCV000191107 RCV000855132 RCV002247618 RCV004791314

NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)

SNV
Germline

Chr2:206130196

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319780

rs_201806038

5 SubmittersRCV000195446 RCV001138793 RCV001138792 RCV002515413

NM_001079866.2(BCS1L):c.-43G>A

SNV
Germline

Chr2:218660945

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome

Criteria Provided
Conflicting Classifications

CA323137

rs_145989550

2 SubmittersRCV000198605 RCV000289306 RCV000341934 RCV000382259

NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)

SNV
Germline

Chr2:218661113

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
GRACILE syndrome

Criteria Provided
Conflicting Classifications

CA325107

rs_144200704

5 SubmittersRCV000200525 RCV000886562 RCV001140092 RCV001140093 RCV001140853

NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)

SNV
Germline

Chr2:218661911

Conflicting classifications of pathogenicity

not specified
BCS1L-related disorder
Condition: not provided
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
GRACILE syndrome

Criteria Provided
Conflicting Classifications

CA325212

rs_148278887

9 SubmittersRCV000200623 RCV000714568 RCV000949252 RCV001137961 RCV001137962 RCV001137963

NM_004544.4(NDUFA10):c.1000-3C>G

SNV
Germline

Chr2:239961189

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA324354

rs_199648872

2 SubmittersRCV000199808 RCV000333603 RCV000388170

NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)

SNV
Germline

Chr2:240021253

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 22
NDUFA10-related disorder

Criteria Provided
Conflicting Classifications

CA325234

rs_140776586

5 SubmittersRCV000200645 RCV001141067 RCV001141068 RCV002470809 RCV003955191

NM_004544.4(NDUFA10):c.-38T>G

SNV
Germline

Chr2:240025339

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA324598

rs_374970309

2 SubmittersRCV000200045 RCV001141189 RCV001141188

NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)

SNV
Germline

Chr2:43995941

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Inborn genetic diseases
LRPPRC-related disorder

Criteria Provided
Conflicting Classifications

CA324447

rs_200686732

9 SubmittersRCV000901776 RCV000986628 RCV001137778 RCV002517228 RCV003937736

NM_002495.4(NDUFS4):c.-6A>T

SNV
Germline

Chr5:53560657

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA323173

rs_73754255

4 SubmittersRCV000198638 RCV001151560 RCV001151559 RCV003917799

NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)

SNV
Germline

Chr5:53560672

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA325091

rs_185711494

3 SubmittersRCV000335188 RCV000960853 RCV001154576 RCV001154575

NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)

SNV
Germline

Chr5:53560675

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency
Leigh syndrome
Inborn genetic diseases
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA323413

rs_149323691

5 SubmittersRCV000198881 RCV000329830 RCV000295911 RCV000660466 RCV002517243 RCV003947635

NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro)

SNV
Germline

Chr5:61073128

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA322323

rs_775605330

4 SubmittersRCV000197862 RCV001157922 RCV001157923 RCV002515408

NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)

SNV
Germline

Chr8:95035527

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 17
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325074

rs_201732170

8 SubmittersRCV000412555 RCV001004883 RCV002517199

NM_003172.4(SURF1):c.889A>C (p.Thr297Pro)

SNV
Germline

Chr9:133351927

Conflicting classifications of pathogenicity

not specified
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA324187

rs_782620122

2 SubmittersRCV000199642 RCV002515441

NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)

SNV
Germline

Chr9:133352452

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA322228

rs_587669420

7 SubmittersRCV000699472 RCV001699229 RCV006452508

NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)

SNV
Germline

Chr9:133352708

Pathogenic/Likely pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4K
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

CA215067

rs_782190413

7 SubmittersRCV000199387 RCV000202523 RCV000631410 RCV002492907 RCV003314575

NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)

SNV
Germline

Chr9:133352719

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
not specified
Inborn genetic diseases
Cholangiocarcinoma
Lung cancer
Cervical cancer

Criteria Provided
Conflicting Classifications

CA321229

rs_200702528

6 SubmittersRCV000196814 RCV001215689 RCV002222439 RCV002517263 RCV005893555 RCV005893556 RCV005893554

NM_003172.4(SURF1):c.324-11T>G

SNV
Germline

Chr9:133353951

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA323008

rs_375398247

8 SubmittersRCV000198496 RCV003152693 RCV003509513

NM_003172.4(SURF1):c.40G>A (p.Ala14Thr)

SNV
Germline

Chr9:133356414

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA323176

rs_863224224

4 SubmittersRCV000198640 RCV001853202 RCV004020427

NM_078470.6(COX15):c.929C>G (p.Pro310Arg)

SNV
Germline

Chr10:99718404

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
COX15-related disorder
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Criteria Provided
Conflicting Classifications

CA320228

rs_138293000

6 SubmittersRCV000195853 RCV000321049 RCV003927838 RCV004558441

NM_078470.6(COX15):c.164G>A (p.Arg55Lys)

SNV
Germline

Chr10:99729661

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321735

rs_777532861

4 SubmittersRCV000197287 RCV000291406 RCV002515389 RCV002517204

NM_017547.4(FOXRED1):c.86-1G>A

SNV
Germline

Chr11:126271436

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 19
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA320799

rs_768720209

4 SubmittersRCV000196380 RCV001090003 RCV006263748

NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)

SNV
Germline

Chr11:126277140

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency, nuclear type 19

Criteria Provided
Conflicting Classifications

CA324443

rs_138061928

7 SubmittersRCV000199891 RCV000763714 RCV001107765 RCV005396586

NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)

SNV
Germline

Chr11:47579324

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324576

rs_141187412

4 SubmittersRCV000200026 RCV001105706 RCV001105707 RCV002515417

NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)

SNV
Germline

Chr11:47582181

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
NDUFS3-related disorder
Mitochondrial complex I deficiency, nuclear type 8

Criteria Provided
Conflicting Classifications

CA320767

rs_148331180

8 SubmittersRCV000274500 RCV000331648 RCV000884571 RCV004530169 RCV005396588

NM_007103.4(NDUFV1):c.-45T>G

SNV
Germline

Chr11:67606960

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA320601

rs_373940385

3 SubmittersRCV000196176 RCV000274501 RCV000331800 RCV004541263

NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)

SNV
Germline

Chr11:67608473

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA324342

rs_11540012

4 SubmittersRCV000199787 RCV000285221 RCV000342561 RCV000676963

NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr)

SNV
Germline

Chr11:67609474

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA325310

rs_757486575

4 SubmittersRCV000200734 RCV003137782 RCV005055709

NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)

SNV
Germline

Chr11:67609490

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA321698

rs_750831299

5 SubmittersRCV000197256 RCV004586617 RCV004554745

NM_007103.4(NDUFV1):c.700+12C>T

SNV
Germline

Chr11:67610582

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320641

rs_200417926

3 SubmittersRCV000196215 RCV001104931 RCV001104932 RCV002517246

NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys)

SNV
Germline

Chr11:67611094

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 4
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA320044

rs_141400889

9 SubmittersRCV000195680 RCV000294572 RCV000390228 RCV002517247 RCV004725050 RCV004734853

NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)

SNV
Germline

Chr11:68032155

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 2
NDUFS8-related disorder

Criteria Provided
Conflicting Classifications

CA324025

rs_150278938

11 SubmittersRCV000726015 RCV000765008 RCV001108403 RCV002517245 RCV003458354 RCV003907737

NM_024407.5(NDUFS7):c.*16C>T

SNV
Germline

Chr19:1395504

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA324673

rs_573586959

2 SubmittersRCV000200114 RCV001127321 RCV001126907

NM_003172.4(SURF1):c.106+1G>C

SNV
Germline

Chr9:133356268

Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA278935

rs_863224926

2 SubmittersRCV000196131

NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu)

SNV
Germline

Chr11:68033254

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277529

rs_764276946

3 SubmittersRCV000200148 RCV001853220

NM_004168.4(SDHA):c.830C>T (p.Thr277Met)

SNV
Germline

Chr5:230935

Conflicting classifications of pathogenicity

Skeletal myopathy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA069792

rs_367721665

10 SubmittersRCV000208222 RCV000228322 RCV000411374 RCV000342145 RCV000283732 RCV000396726 RCV000570331 RCV002510820 RCV003474989 RCV005031782

NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)

SNV
Germline

Chr5:223551

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary cancer-predisposing syndrome
Hereditary renal cell carcinoma
Condition: not provided
not specified
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA358573

rs_140736646

16 SubmittersRCV000210508 RCV000347454 RCV000401643 RCV000410936 RCV000308179 RCV000572294 RCV000678682 RCV001355540 RCV003330583 RCV004530260

NM_004168.4(SDHA):c.1368G>A (p.Ser456=)

SNV
Germline

Chr5:236535

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA358579

rs_149875171

17 SubmittersRCV000210523 RCV000247565 RCV000570838 RCV001080809 RCV001157831 RCV001157833 RCV001157832 RCV003316163 RCV005396683

NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)

SNV
Germline

Chr5:218372

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA358571

rs_187964306

12 SubmittersRCV000216190 RCV000224380 RCV000282383 RCV000374489 RCV000349064 RCV000411625 RCV000573807 RCV001080211 RCV005396685

NM_004168.4(SDHA):c.822C>T (p.Gly274=)

SNV
Germline

Chr5:230927

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
Lung cancer
Colon adenocarcinoma
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Uterine corpus endometrial carcinoma
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Thymoma
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA358575

rs_34771391

15 SubmittersRCV000210510 RCV000287211 RCV000317795 RCV000372488 RCV000426962 RCV000570502 RCV003736642 RCV003316165 RCV005893862 RCV005893853 RCV005893857 RCV005893858 RCV005893859 RCV005396686 RCV005893863 RCV005893861 RCV005893855 RCV005893856 RCV005893860 RCV005893854

NM_004168.4(SDHA):c.1305G>T (p.Leu435=)

SNV
Germline

Chr5:236472

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
not specified
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA358583

rs_35964044

15 SubmittersRCV000210529 RCV000242588 RCV000376037 RCV000291485 RCV000346462 RCV000565630 RCV003114371 RCV003316166 RCV005396687

NM_004168.4(SDHA):c.1413C>T (p.Ile471=)

SNV
Germline

Chr5:236580

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
not specified
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
SDHA-related disorder
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA358577

rs_34779890

15 SubmittersRCV000210520 RCV000437200 RCV000562445 RCV001152356 RCV001152357 RCV001157834 RCV001579483 RCV003316168 RCV004541303 RCV005396689

NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)

SNV
Germline

Chr20:13816520

Pathogenic/Likely pathogenic

Inborn genetic diseases
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 16
Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358016

rs_761389904

9 SubmittersRCV000210569 RCV000679869 RCV001507280 RCV001275555 RCV002517436

NM_004168.4(SDHA):c.739A>G (p.Ile247Val)

SNV
Germline

Chr5:228302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3172957

rs_571292356

9 SubmittersRCV000214276 RCV000230633 RCV000765826 RCV000663181 RCV003477750 RCV004567619

NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)

SNV
Germline

Chr5:256398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Condition: not provided
not specified
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173475

rs_377632619

9 SubmittersRCV000217918 RCV000275247 RCV000333745 RCV000388419 RCV000649461 RCV000765836 RCV001775682 RCV001818525 RCV004567550 RCV005031795

NM_004168.4(SDHA):c.441C>T (p.Pro147=)

SNV
Germline

Chr5:225547

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3172819

rs_201453889

5 SubmittersRCV000233726 RCV000332396 RCV000389166 RCV000274933 RCV000564203 RCV005420912 RCV005641560

NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)

SNV
Germline

Chr5:225548

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG
Condition: not provided
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
not specified

Criteria Provided
Conflicting Classifications

CA3172820

rs_375576259

8 SubmittersRCV000228365 RCV000287726 RCV000345164 RCV000383376 RCV000572868 RCV003475076 RCV003477820 RCV005031816 RCV005055778

NM_004168.4(SDHA):c.777C>T (p.Tyr259=)

SNV
Germline

Chr5:230882

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3172993

rs_140243793

7 SubmittersRCV000234552 RCV000567901 RCV001153421 RCV001153420 RCV001153422 RCV003430784 RCV005420919 RCV004541406

NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)

SNV
Germline

Chr5:251101

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173313

rs_376391115

9 SubmittersRCV000226282 RCV000565244 RCV000663186 RCV001153644 RCV001153645 RCV001153646 RCV002267990 RCV002253311 RCV004541404

NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)

SNV
Germline

Chr5:256404

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173479

rs_191412461

14 SubmittersRCV000227636 RCV000409751 RCV000563763 RCV000998351 RCV001158017 RCV001158019 RCV001158018 RCV004529398

NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr9:133352696

Pathogenic

Leigh syndrome
Condition: not provided
SURF1-related disorder
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10584085

rs_147816470

6 SubmittersRCV000235079 RCV000578885 RCV004554757 RCV005044488 RCV005890956

NM_004168.4(SDHA):c.1002G>A (p.Ala334=)

SNV
Germline

Chr5:233583

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Condition: not provided
not specified
Pheochromocytoma/paraganglioma syndrome 5
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173063

rs_144252500

12 SubmittersRCV000239366 RCV000570639 RCV001152241 RCV001152242 RCV001152243 RCV001705321 RCV001820792 RCV003316318 RCV004535211

NM_004168.4(SDHA):c.1623G>A (p.Lys541=)

SNV
Germline

Chr5:251063

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy

Criteria Provided
Conflicting Classifications

CA3173306

rs_35502109

17 SubmittersRCV000239362 RCV000242066 RCV000569690 RCV001081440 RCV001153641 RCV001153642 RCV001153643 RCV003316319 RCV005396843

NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)

SNV
Germline

Chr5:224364

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
not specified
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Condition: not provided
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172744

rs_377470390

10 SubmittersRCV000239368 RCV000565564 RCV000764599 RCV001820793 RCV003313064 RCV003137852 RCV003475849 RCV005031828 RCV005420930

NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)

SNV
Germline

Chr5:256344

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Condition: not provided
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
not specified

Criteria Provided
Conflicting Classifications

CA3173461

rs_372480044

8 SubmittersRCV000239361 RCV000663177 RCV000574591 RCV000836807 RCV000765835 RCV004586651

NM_004168.4(SDHA):c.549C>T (p.Gly183=)

SNV
Germline

Chr5:225975

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5
Melanoma
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy
Sarcoma
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Gastric cancer
Uterine carcinosarcoma

Criteria Provided
Conflicting Classifications

CA3172874

rs_61733344

17 SubmittersRCV000239367 RCV000291747 RCV000339713 RCV000394814 RCV000418051 RCV000571465 RCV001800618 RCV003316320 RCV005891079 RCV005396845 RCV005891075 RCV005891077 RCV005891080 RCV005891074 RCV005891076 RCV005891078

NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)

SNV
Germline

Chr5:233572

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3173058

rs_200526913

6 SubmittersRCV000239369 RCV000567963 RCV000765830 RCV002291613

NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)

SNV
Germline

Chr20:13788652

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 16
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 1
NDUFAF5-related disorder
Leigh syndrome
Sarcoma
Uterine carcinosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA9767701

rs_150613320

14 SubmittersRCV000255420 RCV001266325 RCV001507283 RCV001833296 RCV001824717 RCV004757983 RCV004701358 RCV005895422 RCV005895423

NM_078470.6(COX15):c.396-3C>G

SNV
Germline

Chr10:99727157

Conflicting classifications of pathogenicity

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Condition: not provided
Leigh syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5642274

rs_200910834

8 SubmittersRCV000006553 RCV000266470 RCV002469094 RCV005895477

NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)

SNV
Germline

Chr9:133352509

Pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K

Criteria Provided
Multiple Submitters
No Conflicts

CA10603164

rs_782623477

5 SubmittersRCV000321649 RCV000631405 RCV005049509

NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)

SNV
Germline

Chr2:218661188

Conflicting classifications of pathogenicity

Leigh syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2109620

rs_142540289

5 SubmittersRCV000273790 RCV000313563 RCV000370613 RCV000376147

NM_001079866.2(BCS1L):c.321-12G>A

SNV
Germline

Chr2:218661394

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2109643

rs_776363896

2 SubmittersRCV000285241 RCV000324948 RCV000382055 RCV003574755

NM_001079866.2(BCS1L):c.258T>C (p.His86=)

SNV
Germline

Chr2:218661245

Conflicting classifications of pathogenicity

Leigh syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10612819

rs_886055627

4 SubmittersRCV000272188 RCV000330882 RCV000364504 RCV000982868

NM_004544.4(NDUFA10):c.549T>C (p.Cys183=)

SNV
Germline

Chr2:240014859

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2200958

rs_149783296

4 SubmittersRCV000301141 RCV000392325 RCV000613561 RCV002519957

NM_004544.4(NDUFA10):c.*647C>T

SNV
Germline

Chr2:239960471

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613273

rs_116254382

2 SubmittersRCV000268599 RCV000321400 RCV001797082

NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)

SNV
Germline

Chr2:206132982

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
See cases
Mitochondrial complex I deficiency, nuclear type 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2070426

rs_137889316

10 SubmittersRCV000348996 RCV000397471 RCV002252098 RCV001728094 RCV001861145 RCV004955438

NM_001079866.2(BCS1L):c.-14G>A

SNV
Germline

Chr2:218660974

Conflicting classifications of pathogenicity

GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2109591

rs_367721351

2 SubmittersRCV000340599 RCV000302189 RCV000395551 RCV000605569

NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)

SNV
Germline

Chr2:218662558

Conflicting classifications of pathogenicity

Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
GRACILE syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2109753

rs_781666793

4 SubmittersRCV000279975 RCV000338686 RCV000394839 RCV000927961

NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)

SNV
Germline

Chr2:218662612

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
not specified
GRACILE syndrome
Condition: not provided
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109770

rs_112329020

5 SubmittersRCV000311482 RCV000351273 RCV000426045 RCV000401551 RCV000913045 RCV004732851

NM_004168.4(SDHA):c.723C>T (p.Asp241=)

SNV
Germline

Chr5:228286

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Neurodegeneration with ataxia and late-onset optic atrophy

Criteria Provided
Conflicting Classifications

CA3172951

rs_146653693

17 SubmittersRCV000275715 RCV000334152 RCV000381733 RCV000457962 RCV000562470 RCV001529253 RCV001821078 RCV005420942 RCV005398480

NM_004168.4(SDHA):c.1092C>T (p.Val364=)

SNV
Germline

Chr5:235171

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10620256

rs_886060515

3 SubmittersRCV000260734 RCV000316002 RCV000355512 RCV002446606 RCV004695857

NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys)

SNV
Germline

Chr5:60945353

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3278067

rs_779872068

2 SubmittersRCV000294764 RCV000386723 RCV003278786

NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu)

SNV
Germline

Chr5:61152859

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA3278195

rs_770172045

2 SubmittersRCV000302238 RCV004649139 RCV000400065

NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val)

SNV
Germline

Chr5:61152867

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3278196

rs_749677218

3 SubmittersRCV000266885 RCV000359308 RCV001861260 RCV006362302

NM_000108.5(DLD):c.*1736T>C

SNV
Germline

Chr7:107920995

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA10622985

rs_190655078

1 SubmittersRCV000283475 RCV000340859 RCV000380454

NM_004168.4(SDHA):c.-1C>T

SNV
Germline

Chr5:218355

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172673

rs_560932680

7 SubmittersRCV000279041 RCV000317717 RCV000380480 RCV001013984 RCV003137969 RCV005033891

NM_004168.4(SDHA):c.1580G>A (p.Arg527His)

SNV
Germline

Chr5:251020

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3173301

rs_766352407

5 SubmittersRCV000287976 RCV000352061 RCV000396802 RCV000461471 RCV001012256 RCV003475935 RCV006259883

NM_004168.4(SDHA):c.*133G>C

SNV
Germline

Chr5:256553

Conflicting classifications of pathogenicity

Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA10624444

rs_193112615

1 SubmittersRCV000285270 RCV000334630 RCV000379866

NM_002495.4(NDUFS4):c.178-4G>C

SNV
Germline

Chr5:53646229

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3264238

rs_200384843

2 SubmittersRCV000337873 RCV000395461 RCV002523527

NM_174889.5(NDUFAF2):c.128-14C>G

SNV
Germline

Chr5:61073111

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3278114

rs_537327206

2 SubmittersRCV000399037 RCV000351951 RCV002520379

NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His)

SNV
Germline

Chr5:61073193

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3278128

rs_769579395

2 SubmittersRCV000298358 RCV000336991 RCV003243110

NM_000108.5(DLD):c.1503G>A (p.Ala501=)

SNV
Germline

Chr7:107919232

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA4434735

rs_766286119

2 SubmittersRCV000282664 RCV000337641 RCV000376969

NM_000108.5(DLD):c.74A>C (p.Gln25Pro)

SNV
Germline

Chr7:107893234

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4434344

rs_61749951

3 SubmittersRCV000266066 RCV000321362 RCV000360727 RCV003168554

NM_000108.5(DLD):c.*470G>A

SNV
Germline

Chr7:107919729

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase complex deficiency
Leigh syndrome
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA10627980

rs_111619940

1 SubmittersRCV000296036 RCV000348657 RCV000401807

NM_000108.5(DLD):c.1465-7C>G

SNV
Germline

Chr7:107919187

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA10628052

rs_886061908

2 SubmittersRCV000286136 RCV000322294 RCV000380507

NM_003172.4(SURF1):c.211G>C (p.Val71Leu)

SNV
Germline

Chr9:133354853

Conflicting classifications of pathogenicity

Leigh syndrome
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10629377

rs_147993882

6 SubmittersRCV000264670 RCV000507001 RCV001354540 RCV003168574

NM_007103.4(NDUFV1):c.326+12G>A

SNV
Germline

Chr11:67608734

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA6143135

rs_184136353

3 SubmittersRCV000307097 RCV000363981 RCV002056232 RCV005893010

NM_007103.4(NDUFV1):c.606G>A (p.Gly202=)

SNV
Germline

Chr11:67610476

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631385

rs_886048589

2 SubmittersRCV000291492 RCV000343621 RCV003708510

NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val)

SNV
Germline

Chr11:68033210

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146437

rs_748754134

2 SubmittersRCV000307867 RCV000344135 RCV000490220

NM_002496.4(NDUFS8):c.501+12C>G

SNV
Germline

Chr11:68036393

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631392

rs_372004236

2 SubmittersRCV000367973 RCV000390827 RCV002056233

NM_003172.4(SURF1):c.366C>T (p.Val122=)

SNV
Germline

Chr9:133353898

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA10632727

rs_886063630

2 SubmittersRCV000268062

NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)

SNV
Germline

Chr11:47584469

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
NDUFS3-related disorder

Criteria Provided
Conflicting Classifications

CA5978099

rs_117981655

4 SubmittersRCV000284678 RCV000406732 RCV000939941 RCV004544516

NM_007103.4(NDUFV1):c.366G>A (p.Pro122=)

SNV
Germline

Chr11:67609491

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA6143155

rs_140445386

4 SubmittersRCV000275192 RCV000367341 RCV000444047 RCV000880288 RCV004544517

NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)

SNV
Germline

Chr11:67610433

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143212

rs_142982022

3 SubmittersRCV000321979 RCV000383441 RCV000523777

NM_007103.4(NDUFV1):c.819C>T (p.Thr273=)

SNV
Germline

Chr11:67611113

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143291

rs_150859374

4 SubmittersRCV000351838 RCV000392952 RCV000885478

NM_007103.4(NDUFV1):c.843T>C (p.His281=)

SNV
Germline

Chr11:67611137

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143296

rs_766555879

2 SubmittersRCV000312468 RCV000355545 RCV000907358

NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)

SNV
Germline

Chr11:67611564

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
NDUFV1-related disorder

Criteria Provided
Conflicting Classifications

CA6143373

rs_142499054

6 SubmittersRCV000265767 RCV000327949 RCV000761787 RCV004537723

NM_002496.4(NDUFS8):c.200-14C>T

SNV
Germline

Chr11:68033097

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146422

rs_373128833

2 SubmittersRCV000342747 RCV000401109 RCV002520746

NM_002496.4(NDUFS8):c.459C>T (p.Cys153=)

SNV
Germline

Chr11:68036339

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146535

rs_149201273

3 SubmittersRCV000308579 RCV000390917 RCV000907728

NM_002496.4(NDUFS8):c.502-10C>T

SNV
Germline

Chr11:68036452

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided
NDUFS8-related disorder

Criteria Provided
Conflicting Classifications

CA6146557

rs_369961682

4 SubmittersRCV000260796 RCV000315895 RCV000602666 RCV000898642 RCV003950032

NM_002496.4(NDUFS8):c.597C>T (p.Ile199=)

SNV
Germline

Chr11:68036557

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146575

rs_1804688

4 SubmittersRCV000265926 RCV000356692 RCV001718621

NM_078470.6(COX15):c.582+14A>G

SNV
Germline

Chr10:99726954

Conflicting classifications of pathogenicity

Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642234

rs_79410539

3 SubmittersRCV000285899 RCV000443501 RCV001523675

NM_078470.6(COX15):c.1029C>A (p.Leu343=)

SNV
Germline

Chr10:99716420

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642109

rs_757725009

2 SubmittersRCV000374551 RCV003718156

NM_078470.6(COX15):c.255T>C (p.Ile85=)

SNV
Germline

Chr10:99729570

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642324

rs_147881961

3 SubmittersRCV000396573 RCV001672415

NM_004551.3(NDUFS3):c.657G>A (p.Val219=)

SNV
Germline

Chr11:47584343

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5978068

rs_377323760

3 SubmittersRCV000325919 RCV000382544 RCV002056209

NM_004589.4(SCO1):c.868A>G (p.Ile290Val)

SNV
Germline

Chr17:10681157

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8393457

rs_139771078

7 SubmittersRCV000324448 RCV002061215 RCV003137923 RCV005268591

NM_001303.4(COX10):c.543G>A (p.Pro181=)

SNV
Germline

Chr17:14102161

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Uterine corpus endometrial carcinoma
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA8402358

rs_371273328

4 SubmittersRCV000328617 RCV000383020 RCV001564175 RCV005894577 RCV005894576

NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=)

SNV
Germline

Chr11:67611506

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143362

rs_371426372

2 SubmittersRCV000267146 RCV000354895 RCV003765798

NM_007103.4(NDUFV1):c.1309-9C>T

SNV
Germline

Chr11:67612363

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143498

rs_374581520

2 SubmittersRCV000281538 RCV000387593 RCV000930807

NM_002496.4(NDUFS8):c.502-13C>T

SNV
Germline

Chr11:68036449

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146555

rs_199793417

3 SubmittersRCV000314847 RCV000369510 RCV000427186 RCV002056234

NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)

SNV
Germline

Chr11:47579292

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5977804

rs_770306617

3 SubmittersRCV000301677 RCV000358793 RCV000616791 RCV003765795

NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)

SNV
Germline

Chr11:67608601

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143111

rs_199543483

5 SubmittersRCV000284822 RCV000393780 RCV000424374 RCV000939143

NM_024407.5(NDUFS7):c.270C>T (p.Ala90=)

SNV
Germline

Chr19:1390912

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043328

rs_375120743

4 SubmittersRCV000307576 RCV000405173 RCV000891844

NM_024407.5(NDUFS7):c.561C>A (p.Ala187=)

SNV
Germline

Chr19:1395407

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642357

rs_144570086

3 SubmittersRCV000274190 RCV000319795 RCV003765901

NM_001303.4(COX10):c.*646C>G

SNV
Germline

Chr17:14207859

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644889

rs_7214082

2 SubmittersRCV000347246 RCV000395029 RCV001778908

NM_001303.4(COX10):c.624+4A>G

SNV
Germline

Chr17:14102246

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8402373

rs_199668725

7 SubmittersRCV000288666 RCV000343670 RCV000829183 RCV006342228

NM_001303.4(COX10):c.-24G>A

SNV
Germline

Chr17:14069582

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402192

rs_201257809

2 SubmittersRCV000279297 RCV000373740 RCV000827262

NM_001303.4(COX10):c.192G>A (p.Leu64=)

SNV
Germline

Chr17:14076749

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402269

rs_569444237

3 SubmittersRCV000262578 RCV000357092 RCV002522914

NM_001303.4(COX10):c.909C>T (p.Ala303=)

SNV
Germline

Chr17:14192202

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402460

rs_370260574

2 SubmittersRCV000349796 RCV000398956 RCV001636907

NM_024407.5(NDUFS7):c.21T>C (p.Pro7=)

SNV
Germline

Chr19:1387815

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043014

rs_201222388

2 SubmittersRCV000287249 RCV000400936 RCV003556343

NM_004168.4(SDHA):c.-7A>C

SNV
Germline

Chr5:218349

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
not specified
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3172666

rs_751633537

16 SubmittersRCV000411889 RCV000425129 RCV000649475 RCV000756629 RCV001151931 RCV001151932 RCV001151933 RCV002255377

NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)

SNV
Germline

Chr5:233636

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 5
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA3173073

rs_199844384

13 SubmittersRCV000411606 RCV000463749 RCV000498298 RCV000563279 RCV000765832 RCV001153526 RCV001153527 RCV001153528 RCV003475997 RCV003483608 RCV005033927

NM_003172.4(SURF1):c.751+5G>A

SNV
Germline

Chr9:133352441

Conflicting classifications of pathogenicity

Condition: not provided
Muscle weakness
Abnormal pyramidal sign
Dysarthria
Cerebellar ataxia
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
not specified

Criteria Provided
Conflicting Classifications

CA16042683

rs_781934508

6 SubmittersRCV000413105 RCV000626843 RCV002283477 RCV002523941 RCV005044629 RCV005238967

NM_007103.4(NDUFV1):c.1162+4A>C

SNV
Germline

Chr11:67611982

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 4
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6143415

rs_199683937

5 SubmittersRCV000015104 RCV000414504 RCV000763270 RCV001778956

NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)

SNV
Germline

Chr2:206147029

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA2070717

rs_148544177

4 SubmittersRCV000419653 RCV001138898 RCV001138899 RCV002061445 RCV003950361

NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)

SNV
Germline

Chr2:218661470

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16604118

rs_1057521059

7 SubmittersRCV000432529 RCV001329213 RCV002285017 RCV004798833

NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)

SNV
Germline

Chr2:218661158

Conflicting classifications of pathogenicity

not specified
GRACILE syndrome
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109614

rs_756932413

4 SubmittersRCV000432338 RCV001140854 RCV001140856 RCV001140855 RCV001484726 RCV004539801

NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)

SNV
Germline

Chr2:206142757

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070575

rs_112026097

3 SubmittersRCV000429059 RCV001143219 RCV001143220 RCV001512828

NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)

SNV
Germline

Chr2:218662561

Conflicting classifications of pathogenicity

not specified
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
Condition: not provided
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109755

rs_148302981

4 SubmittersRCV000438295 RCV001138378 RCV001138379 RCV001138380 RCV002521706 RCV004539845

NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)

SNV
Germline

Chr5:53603503

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3264190

rs_142368721

4 SubmittersRCV001157095 RCV001157096 RCV000906096

NM_000108.5(DLD):c.321A>G (p.Ala107=)

SNV
Germline

Chr7:107903531

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4434418

rs_138398782

5 SubmittersRCV000898845 RCV001160216 RCV001163571 RCV001703709 RCV006268768

NM_004168.4(SDHA):c.895+13G>A

SNV
Germline

Chr5:231013

Conflicting classifications of pathogenicity

not specified
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA3173017

rs_201461936

4 SubmittersRCV000440704 RCV000662985 RCV001157730 RCV001157731 RCV001157732 RCV002256236

NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)

SNV
Germline

Chr9:133352516

Pathogenic

Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16605403

rs_1057520688

2 SubmittersRCV000440906 RCV003619671

NM_003172.4(SURF1):c.240+1G>T

SNV
Germline

Chr9:133354823

Pathogenic

Condition: not provided
Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16605409

rs_781948238

5 SubmittersRCV000422985 RCV001260417 RCV002502493

NM_003172.4(SURF1):c.833+3G>A

SNV
Germline

Chr9:133352058

Conflicting classifications of pathogenicity

not specified
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA16605652

rs_587699821

3 SubmittersRCV000428492 RCV002522381

NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)

SNV
Germline

Chr9:133354713

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16605654

rs_782024654

8 SubmittersRCV000437222 RCV001379593 RCV004022345

NM_007103.4(NDUFV1):c.155+12C>T

SNV
Germline

Chr11:67608490

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143092

rs_199963966

3 SubmittersRCV000444487 RCV001105992 RCV001105991 RCV002062380

NM_007103.4(NDUFV1):c.831C>T (p.Asn277=)

SNV
Germline

Chr11:67611125

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA6143295

rs_139299777

4 SubmittersRCV000917470 RCV001106100 RCV001106099

NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)

SNV
Germline

Chr11:67612226

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143466

rs_147719815

3 SubmittersRCV000426011 RCV001105039 RCV001105040 RCV003766367

NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)

SNV
Germline

Chr11:68033166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
NDUFS8-related disorder

Criteria Provided
Conflicting Classifications

CA6146432

rs_144125742

8 SubmittersRCV000431887 RCV000676967 RCV001111479 RCV001111480 RCV003912624

NM_001303.4(COX10):c.93C>A (p.Asp31Glu)

SNV
Germline

Chr17:14074372

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided
COX10-related disorder

Criteria Provided
Conflicting Classifications

CA8402242

rs_141481210

5 SubmittersRCV001125643 RCV001125644 RCV001718821 RCV003950347

NM_024407.5(NDUFS7):c.138G>A (p.Leu46=)

SNV
Germline

Chr19:1388848

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043125

rs_147710123

3 SubmittersRCV001127213 RCV001123144 RCV001698192

NM_004168.4(SDHA):c.1527G>A (p.Ser509=)

SNV
Germline

Chr5:240452

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173266

rs_746453879

6 SubmittersRCV000473824 RCV000573305 RCV001152358 RCV001152359 RCV001152360 RCV003478054 RCV005421900

NM_004168.4(SDHA):c.1014G>A (p.Ala338=)

SNV
Germline

Chr5:233595

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173065

rs_201341132

6 SubmittersRCV000456689 RCV000563364 RCV001152244 RCV001152246 RCV001152245 RCV001310840 RCV004535493 RCV005421894

NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)

SNV
Germline

Chr5:233536

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
not specified
Condition: not provided
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173042

rs_377509915

11 SubmittersRCV000462816 RCV000565889 RCV000765829 RCV001821296 RCV002272249 RCV003476127 RCV005421813

NM_004168.4(SDHA):c.1725G>A (p.Ala575=)

SNV
Germline

Chr5:251399

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173340

rs_758252610

5 SubmittersRCV000466412 RCV000561801 RCV001156240 RCV001156241 RCV001156242 RCV003478052 RCV005421878

NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)

SNV
Germline

Chr5:218360

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Condition: not provided
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3172677

rs_780064103

8 SubmittersRCV000473246 RCV000569083 RCV001153198 RCV001153199 RCV001153200 RCV003225073 RCV004568122

NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr6:98899281

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome 13
Inborn genetic diseases
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3933489

rs_754142863

5 SubmittersRCV000493951 RCV000501572 RCV000623300 RCV004782406

NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)

SNV
Germline

Chr16:1773083

Likely pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 32

Criteria Provided
Single Submitter

CA394244567

rs_1131692037

3 SubmittersRCV000494696 RCV000505523

NM_023936.1(MRPS34):c.321+1G>T

SNV
Germline

Chr16:1772798

Pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 32

No Assertion Criteria Provided

CA394243765

rs_1161932777

2 SubmittersRCV000585740 RCV000505529

NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)

SNV
Germline

Chr6:98899353

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 13
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA3933499

rs_773850151

7 SubmittersRCV000499421 RCV001591147 RCV004800434

NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr11:126275814

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6354204

rs_146661281

5 SubmittersRCV000514034 RCV000763713 RCV004023480

NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)

SNV
Germline

Chr17:14207172

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
COX10-related disorder

Criteria Provided
Conflicting Classifications

CA8402598

rs_113058506

9 SubmittersRCV000514768 RCV000603785 RCV001122054 RCV001122055 RCV003925530

NM_001303.4(COX10):c.311C>T (p.Pro104Leu)

SNV
Germline

Chr17:14076868

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 3

Criteria Provided
Conflicting Classifications

CA8402295

rs_202207627

7 SubmittersRCV000521510 RCV001127738 RCV001127737 RCV002476049

NM_004168.4(SDHA):c.1188G>A (p.Thr396=)

SNV
Germline

Chr5:235267

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3173134

rs_778667374

6 SubmittersRCV000541698 RCV001010227 RCV001156143 RCV001156144 RCV001157830 RCV004735622 RCV005422058 RCV006260216

NM_004168.4(SDHA):c.-2A>T

SNV
Germline

Chr5:218354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3172671

rs_763680697

5 SubmittersRCV000564955 RCV001151934 RCV001153197 RCV001153196 RCV003139877

NM_002495.4(NDUFS4):c.178-2A>G

SNV
Germline

Chr5:53646231

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA359719528

rs_1554059248

1 SubmittersRCV000578463

NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)

SNV
Germline

Chr11:68036321

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381569172

rs_1267554976

2 SubmittersRCV000578254 RCV001815416

NM_003172.4(SURF1):c.752-1G>C

SNV
Germline

Chr9:133352143

Pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375693588

rs_1391748504

4 SubmittersRCV000578241 RCV004592782

NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)

SNV
Germline

Chr5:61152896

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA3278200

rs_9885480

8 SubmittersRCV000602804 RCV000585479 RCV001152463 RCV001153733

NM_002495.4(NDUFS4):c.99-1G>A

SNV
Germline

Chr5:53603451

Pathogenic

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Mitochondrial disease
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA3264179

rs_376281345

8 SubmittersRCV000007294 RCV000588112 RCV003558447 RCV005357776 RCV005898611

NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)

SNV
Germline

Chr5:61098995

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA3278149

rs_772294726

5 SubmittersRCV000587093 RCV001557146 RCV002497240

NM_078470.6(COX15):c.452C>G (p.Ser151Ter)

SNV
Germline

Chr10:99727098

Pathogenic/Likely pathogenic

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Leigh syndrome
Condition: not provided
See cases
COX15-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5642259

rs_149718203

10 SubmittersRCV000033254 RCV000586150 RCV000599531 RCV002252173 RCV004757251

NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)

SNV
Germline

Chr11:67611973

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 4
NDUFV1-related disorder
Mitochondrial complex I deficiency, nuclear type

Criteria Provided
Multiple Submitters
No Conflicts

CA6143414

rs_536758576

13 SubmittersRCV000592779 RCV001731801 RCV001783094 RCV004530649 RCV004760638

NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)

SNV
Germline

Chr11:126277071

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 19

Criteria Provided
Multiple Submitters
No Conflicts

CA383231093

rs_1555066709

5 SubmittersRCV000598917 RCV002532695 RCV004586826 RCV005044897

NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)

SNV
Germline

Chr11:47584433

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA5978089

rs_3740654

4 SubmittersRCV000614898 RCV001103853 RCV001103854 RCV002531615 RCV005899960

NM_004589.4(SCO1):c.411G>A (p.Gly137=)

SNV
Germline

Chr17:10692915

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
SCO1-related disorder

Criteria Provided
Conflicting Classifications

CA8393600

rs_371690301

5 SubmittersRCV001124450 RCV001124449 RCV001697873 RCV004544751

NM_003172.4(SURF1):c.772C>T (p.Pro258Ser)

SNV
Germline

Chr9:133352122

Pathogenic

Leigh syndrome

No Assertion Criteria Provided

CA200832091

rs_1053850536

1 SubmittersRCV000754102

NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr)

SNV
Germline

Chr9:133352750

Conflicting classifications of pathogenicity

Leigh syndrome

No Assertion Criteria Provided

CA375694077

rs_587753385

2 SubmittersRCV000754103

NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)

SNV
Germline

Chr8:95048461

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA371746474

rs_762620949

1 SubmittersRCV000626222

NM_004168.4(SDHA):c.558C>T (p.Ala186=)

SNV
Germline

Chr5:225984

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172877

rs_199618059

4 SubmittersRCV000649483 RCV001155907 RCV001155908 RCV001155909 RCV002343344 RCV005422919

NM_003172.4(SURF1):c.588+1G>A

SNV
Germline

Chr9:133352693

Pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Leigh syndrome

Criteria Provided
Single Submitter

CA375693956

rs_1219762677

2 SubmittersRCV000662348 RCV002530598

NM_000108.5(DLD):c.55C>G (p.Arg19Gly)

SNV
Germline

Chr7:107893215

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4434339

rs_144038427

5 SubmittersRCV000701637 RCV001163784 RCV001163783 RCV001561816 RCV006268962

NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)

SNV
Germline

Chr5:53658555

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3264293

rs_747359752

4 SubmittersRCV000714799 RCV000714800 RCV002532977 RCV003558540

NM_003172.4(SURF1):c.833+1G>A

SNV
Germline

Chr9:133352060

Pathogenic

Leigh syndrome
not specified
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375693425

rs_782609482

6 SubmittersRCV000735985 RCV000781906 RCV001784364 RCV002272341

NM_003172.4(SURF1):c.516-2A>G

SNV
Germline

Chr9:133352768

Pathogenic

not specified
Condition: not provided
Leigh syndrome
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA200832536

rs_782682492

5 SubmittersRCV000780770 RCV001726326 RCV001242611 RCV005897395

NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)

SNV
Germline

Chr9:133353760

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375694143

rs_1564349087

1 SubmittersRCV000785948

NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)

SNV
Germline

Chr2:218662993

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leigh syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1

Criteria Provided
Conflicting Classifications

CA2109810

rs_146731467

5 SubmittersRCV000825116 RCV000885856 RCV001140962 RCV001140960 RCV001140961

NC_012920.1(MT-ATP6):m.9035T>C

SNV
Germline

ChrMT:9035

Likely pathogenic

Progressive cerebellar ataxia
Leigh syndrome
See cases
Leber optic atrophy
Mitochondrial disease
MT-ATP6-related primary mitochondrial disease
MT-ATP6-related disorder
NARP syndrome
Primary mitochondrial disorders

Reviewed By Expert Panel

CA414801955

rs_1603222000

11 SubmittersRCV000851177 RCV000854406 RCV001196557 RCV002249546 RCV002260672 RCV002466594 RCV005870934 RCV004768714 RCV006556754

NC_012920.1(MT-ND5):m.13094T>C

SNV
Germline

ChrMT:13094

Pathogenic

MELAS syndrome
Mitochondrial disease
Leber optic atrophy
Leigh syndrome, mitochondrial
Primary mitochondrial disorders

Reviewed By Expert Panel

CA414816540

rs_1603224029

6 SubmittersRCV000854891 RCV002291219 RCV002249552 RCV005638538 RCV006556762

NC_012920.1(MT-ND5):m.13112T>C

SNV
Germline

ChrMT:13112

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA414816577

rs_1603224043

2 SubmittersRCV000854896

NC_012920.1(MT-CYB):m.14924T>C

SNV
Germline

ChrMT:14924

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA913172462

rs_1603224966

2 SubmittersRCV000855184 RCV005436185

NC_012920.1(MT-ND1):m.3565A>G

SNV
Germline

ChrMT:3565

Conflicting classifications of pathogenicity

Leigh syndrome
Intellectual disability

Criteria Provided
Conflicting Classifications

CA337096593

rs_2854133

2 SubmittersRCV000853677 RCV005626236

NC_012920.1(MT-ATP6):m.8609C>T

SNV
Germline

ChrMT:8609

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA414796911

rs_1603221634

2 SubmittersRCV000854258 RCV005436137

NM_003172.4(SURF1):c.321C>T (p.Ala107=)

SNV
Germline

Chr9:133354661

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Thyroid cancer, nonmedullary, 1
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA200833334

rs_141425824

4 SubmittersRCV000874503 RCV001593100 RCV005907154 RCV005907153

NM_004168.4(SDHA):c.1977A>G (p.Pro659=)

SNV
Germline

Chr5:256402

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173478

rs_768693502

4 SubmittersRCV000887554 RCV001013815 RCV001158014 RCV001158015 RCV001158016 RCV005427357

NM_078470.6(COX15):c.664C>T (p.Arg222Cys)

SNV
Germline

Chr10:99724042

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
COX15-related disorder

Criteria Provided
Conflicting Classifications

CA5642212

rs_2231682

4 SubmittersRCV000898890 RCV001108828 RCV003950526

NM_007103.4(NDUFV1):c.597C>T (p.Arg199=)

SNV
Germline

Chr11:67610467

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA6143223

rs_151104852

3 SubmittersRCV000898339 RCV001103034 RCV001103033

NM_004589.4(SCO1):c.579G>T (p.Leu193=)

SNV
Germline

Chr17:10691948

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
SCO1-related disorder
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA8393553

rs_376145746

4 SubmittersRCV000906371 RCV001124446 RCV001124445 RCV004531046 RCV005907684

NM_001303.4(COX10):c.260C>T (p.Thr87Ile)

SNV
Germline

Chr17:14076817

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA8402283

rs_144000161

4 SubmittersRCV000899247 RCV001127734 RCV001127733

NM_002495.4(NDUFS4):c.360C>G (p.Pro120=)

SNV
Germline

Chr5:53658560

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA3264294

rs_368876333

2 SubmittersRCV000911644 RCV001154689 RCV001154690

NM_007103.4(NDUFV1):c.432G>T (p.Val144=)

SNV
Germline

Chr11:67609557

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA6143168

rs_144087607

2 SubmittersRCV000925053 RCV001108218 RCV001108219

NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)

SNV
Germline

Chr11:68032170

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA6146321

rs_142658611

7 SubmittersRCV000923575 RCV001103233 RCV001103232

NM_000108.5(DLD):c.375G>A (p.Glu125=)

SNV
Germline

Chr7:107904995

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA4434451

rs_559057715

3 SubmittersRCV000928867 RCV001163572 RCV001163573

NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)

SNV
Germline

Chr20:13801633

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA9767833

rs_199543540

3 SubmittersRCV000944245 RCV001279574

NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)

SNV
Germline

Chr2:206770181

Pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 44
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2074979

rs_778120270

5 SubmittersRCV000984085 RCV001090022 RCV002508273

NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr2:206141947

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 5

Criteria Provided
Conflicting Classifications

CA2070515

rs_776114731

3 SubmittersRCV000986982 RCV001858657 RCV005603674

NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)

SNV
Unknown

Chr2:206147564

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA350061036

rs_747249702

1 SubmittersRCV000986985

NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)

SNV
Germline

Chr9:133354828

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375694727

rs_1244071473

2 SubmittersRCV000988283

NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)

SNV
Germline

Chr11:67611060

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA6143282

rs_755312472

5 SubmittersRCV000988584 RCV001869354 RCV005049723 RCV001104933

NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)

SNV
Germline

Chr11:67611945

Likely pathogenic

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA381541638

rs_1591111808

2 SubmittersRCV000988585 RCV005049724

NM_004168.4(SDHA):c.1177G>A (p.Val393Met)

SNV
Germline

Chr5:235256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
Dilated cardiomyopathy 1GG
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173130

rs_372989971

7 SubmittersRCV001010145 RCV001156140 RCV001156141 RCV001156142 RCV001238661 RCV003478607 RCV004569864 RCV004536047

NM_078470.6(COX15):c.495G>T (p.Leu165=)

SNV
Germline

Chr10:99727055

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA471122730

rs_2036978379

2 SubmittersRCV001108830 RCV005093505

NM_078470.6(COX15):c.84A>G (p.Arg28=)

SNV
Germline

Chr10:99731966

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642380

rs_370595065

2 SubmittersRCV001103674 RCV002555014

NM_007103.3(NDUFV1):c.-74T>C

SNV
Germline

Chr11:67606931

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224171197

rs_373383800

2 SubmittersRCV001102922 RCV001102923 RCV001568735

NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)

SNV
Germline

Chr11:67612190

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475511102

rs_1854932368

2 SubmittersRCV001103128 RCV001103129 RCV003669187

NM_078470.6(COX15):c.832+9C>T

SNV
Germline

Chr10:99720978

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5642165

rs_777349150

2 SubmittersRCV001108826 RCV003769111

NM_007103.4(NDUFV1):c.1308+7A>T

SNV
Germline

Chr11:67612272

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143475

rs_767679135

2 SubmittersRCV001105041 RCV001105042 RCV002558047

NM_004589.4(SCO1):c.16C>T (p.Leu6=)

SNV
Germline

Chr17:10697492

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8393733

rs_61753148

2 SubmittersRCV001124543 RCV001124544 RCV002558228

NM_001303.4(COX10):c.1305C>T (p.Gly435=)

SNV
Germline

Chr17:14207186

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8402607

rs_199737206

2 SubmittersRCV001122056 RCV001122057 RCV002556626

NM_001303.4(COX10):c.*305A>G

SNV
Germline

Chr17:14207518

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288081256

rs_143758001

2 SubmittersRCV001124826 RCV001124825 RCV003405332

NM_001303.4(COX10):c.*904C>G

SNV
Germline

Chr17:14208117

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA288081799

rs_75839697

1 SubmittersRCV001125912 RCV001125911

NM_001303.4(COX10):c.*1079G>A

SNV
Germline

Chr17:14208292

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288081928

rs_116445114

2 SubmittersRCV001122250 RCV001122251 RCV001779119

NM_001303.4(COX10):c.*1267A>G

SNV
Germline

Chr17:14208480

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288082058

rs_75844637

2 SubmittersRCV001122254 RCV001122255 RCV001786437

NM_001303.4(COX10):c.*1383G>A

SNV
Germline

Chr17:14208596

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288082146

rs_145948022

2 SubmittersRCV001125028 RCV001125029 RCV001836945

NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)

SNV
Germline

Chr19:1388868

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9043133

rs_565395435

3 SubmittersRCV001123146 RCV001123145 RCV002556658 RCV003339513

NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)

SNV
Germline

Chr19:1393311

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043424

rs_757488156

3 SubmittersRCV001124231 RCV001124232 RCV001569783

NM_024407.5(NDUFS7):c.455+13C>T

SNV
Germline

Chr19:1391178

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9043387

rs_376025020

2 SubmittersRCV001124228 RCV001124230 RCV002558225

NM_005006.7(NDUFS1):c.*426T>G

SNV
Germline

Chr2:206123759

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63645927

rs_114402169

2 SubmittersRCV001138693 RCV001138694 RCV001856776

NM_005006.7(NDUFS1):c.*341A>G

SNV
Germline

Chr2:206123844

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63645950

rs_150214409

2 SubmittersRCV001141271 RCV001141270 RCV001786443

NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)

SNV
Germline

Chr2:206126760

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Inborn genetic diseases
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA2070312

rs_769276632

2 SubmittersRCV001136552 RCV002558295 RCV001136551

NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)

SNV
Germline

Chr2:206144996

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070657

rs_148726142

2 SubmittersRCV001136655 RCV001136656 RCV002556902

NM_005006.7(NDUFS1):c.63T>C (p.Val21=)

SNV
Germline

Chr2:206152509

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070912

rs_756632601

2 SubmittersRCV001143331 RCV001143332 RCV002070724

NM_005006.7(NDUFS1):c.-64T>C

SNV
Germline

Chr2:206159400

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA63679006

rs_145023130

1 SubmittersRCV001138992 RCV001138991

NM_005006.7(NDUFS1):c.-75A>G

SNV
Germline

Chr2:206159411

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63679024

rs_138818421

3 SubmittersRCV001138995 RCV001138996 RCV003438669

NM_005006.7(NDUFS1):c.-76G>A

SNV
Germline

Chr2:206159412

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA63679027

rs_116137442

2 SubmittersRCV001141606 RCV001141607 RCV001786444

NM_004544.4(NDUFA10):c.*2133A>G

SNV
Germline

Chr2:239958985

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68047691

rs_6736791

2 SubmittersRCV001139764 RCV001139765 RCV002221610

NM_004544.4(NDUFA10):c.*1930C>G

SNV
Germline

Chr2:239959188

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA68047822

rs_535714073

1 SubmittersRCV001142384 RCV001142385

NM_004544.4(NDUFA10):c.*1453G>A

SNV
Germline

Chr2:239959665

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA68048052

rs_192964209

1 SubmittersRCV001140649 RCV001140650

NM_004544.4(NDUFA10):c.*679A>G

SNV
Germline

Chr2:239960439

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA68048533

rs_374065697

1 SubmittersRCV001140110 RCV001140109

NM_004544.4(NDUFA10):c.*428C>T

SNV
Germline

Chr2:239960690

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA68048797

rs_557106858

1 SubmittersRCV001142724 RCV001142725

NM_004544.4(NDUFA10):c.*183C>T

SNV
Germline

Chr2:239960935

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA68048980

rs_112660586

1 SubmittersRCV001138395 RCV001138396

NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)

SNV
Germline

Chr2:240014778

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2200936

rs_148656779

2 SubmittersRCV001138078 RCV001138079 RCV002070620

NM_004544.4(NDUFA10):c.363G>A (p.Pro121=)

SNV
Germline

Chr2:240021294

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2201077

rs_749199433

2 SubmittersRCV001141070 RCV001141069 RCV006612625

NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)

SNV
Germline

Chr2:240021303

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
NDUFA10-related disorder

Criteria Provided
Conflicting Classifications

CA2201081

rs_118106981

4 SubmittersRCV001141071 RCV001141072 RCV002285448 RCV003928737

NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys)

SNV
Germline

Chr2:240025261

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 22
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68073082

rs_928084265

4 SubmittersRCV001138192 RCV001138193 RCV004032319 RCV005394759 RCV006275057

NM_004168.4(SDHA):c.*249T>C

SNV
Germline

Chr5:256669

Conflicting classifications of pathogenicity

Leigh syndrome
Hereditary pheochromocytoma and paraganglioma
Mitochondrial complex II deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA112784663

rs_189989110

1 SubmittersRCV001153830 RCV001153828 RCV001153829

NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=)

SNV
Germline

Chr5:61152868

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3278197

rs_550008432

3 SubmittersRCV001152461 RCV001152462 RCV001712860

NM_004168.4(SDHA):c.896-11G>T

SNV
Germline

Chr5:233466

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173036

rs_774043076

3 SubmittersRCV001157733 RCV001157735 RCV001157734 RCV002256692 RCV005423854

NM_000108.5(DLD):c.30C>A (p.Ser10=)

SNV
Germline

Chr7:107891280

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Leigh syndrome
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Conflicting Classifications

CA164237587

rs_779166996

2 SubmittersRCV001163465 RCV001163467 RCV001163466

NM_000108.5(DLD):c.*1640A>G

SNV
Germline

Chr7:107920899

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA164262766

rs_148148357

1 SubmittersRCV001164388 RCV001164389 RCV001164390

NM_000108.5(DLD):c.*1876G>A

SNV
Germline

Chr7:107921135

Conflicting classifications of pathogenicity

Leigh syndrome
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency

Criteria Provided
Conflicting Classifications

CA164262843

rs_142001971

1 SubmittersRCV001160821 RCV001160822 RCV001160823

NM_003172.4(SURF1):c.*47G>A

SNV
Germline

Chr9:133351866

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200831828

rs_138050767

2 SubmittersRCV001165818 RCV001562775

NM_003172.4(SURF1):c.801G>A (p.Leu267=)

SNV
Germline

Chr9:133352093

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200832054

rs_782120692

3 SubmittersRCV001165820 RCV003433068

NM_003172.4(SURF1):c.507C>T (p.Thr169=)

SNV
Germline

Chr9:133353757

Conflicting classifications of pathogenicity

Leigh syndrome
SURF1-related disorder

Criteria Provided
Conflicting Classifications

CA200832954

rs_782614599

3 SubmittersRCV001168008 RCV004554848

NM_003172.4(SURF1):c.226T>C (p.Leu76=)

SNV
Germline

Chr9:133354838

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA200833476

rs_782036327

2 SubmittersRCV001168782

NM_003172.4(SURF1):c.106+15C>G

SNV
Germline

Chr9:133356254

Conflicting classifications of pathogenicity

Leigh syndrome

Criteria Provided
Conflicting Classifications

CA200834037

rs_781892153

2 SubmittersRCV001165890

NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)

SNV
Germline

Chr9:133351982

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200831946

rs_782601312

2 SubmittersRCV001193157

NM_003172.4(SURF1):c.243C>G (p.Val81=)

SNV
Germline

Chr9:133354739

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA860710379

rs_1277150134

2 SubmittersRCV001200195 RCV005094064

NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr8:95035493

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 17
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA4814749

rs_753873681

7 SubmittersRCV001249207 RCV001556391 RCV003152754 RCV005909194

NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)

SNV
Germline

Chr11:67611569

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA6143377

rs_201992354

5 SubmittersRCV001249206 RCV001267713 RCV001879751 RCV005909193

NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)

SNV
Germline

Chr20:13801528

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9767811

rs_200756131

2 SubmittersRCV001249209 RCV006466118

NM_024120.5(NDUFAF5):c.519+4A>G

SNV
Germline

Chr20:13798504

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
not specified
Mitochondrial complex I deficiency, nuclear type 16

Criteria Provided
Conflicting Classifications

CA9767786

rs_373951216

5 SubmittersRCV001249208 RCV002570397 RCV001844279 RCV004762023

NC_012920.1(MT-ATP6):m.9155A>G

SNV
Germline

ChrMT:9155

Likely pathogenic

Mitochondrial disease
Leigh syndrome

Reviewed By Expert Panel

CA414802316

rs_2521964059

2 SubmittersRCV002291223 RCV002537703

NM_024120.5(NDUFAF5):c.480-3T>G

SNV
Germline

Chr20:13798458

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 16
NDUFAF5-related disorder
Ovarian serous cystadenocarcinoma
Thymoma
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA9767782

rs_749288299

5 SubmittersRCV001279569 RCV001773584 RCV003469500 RCV004758155 RCV005910825 RCV005910826 RCV005910824

NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)

SNV
Germline

Chr20:13801583

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 16
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9767826

rs_141758325

6 SubmittersRCV001279573 RCV002480914 RCV002537856 RCV005623410

NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)

SNV
Germline

Chr5:53560742

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
not specified
NDUFS4-related disorder

Criteria Provided
Conflicting Classifications

CA3264147

rs_145347909

5 SubmittersRCV001328961 RCV002070156 RCV004587126 RCV004758160

NM_078470.6(COX15):c.305G>A (p.Trp102Ter)

SNV
Germline

Chr10:99727531

Pathogenic/Likely pathogenic

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5642300

rs_778412019

4 SubmittersRCV001331215 RCV002307728 RCV003738044

NM_017547.4(FOXRED1):c.734-1G>C

SNV
Unknown

Chr11:126275793

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA383230297

rs_1296948086

1 SubmittersRCV001334927

NM_024996.7(GFM1):c.573-1G>C

SNV
Germline

Chr3:158649040

Conflicting classifications of pathogenicity

Condition: not provided
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA355176176

rs_2108009356

6 SubmittersRCV001379654 RCV001831371 RCV005361584

NM_003172.4(SURF1):c.211G>T (p.Val71Leu)

SNV
Germline

Chr9:133354853

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA200833481

rs_147993882

3 SubmittersRCV001399689 RCV002552716 RCV003120601

NM_003172.4(SURF1):c.55-4G>C

SNV
Germline

Chr9:133356324

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200834056

rs_927604495

2 SubmittersRCV001419301 RCV003264033

NM_024120.5(NDUFAF5):c.223-907A>C

SNV
Germline

Chr20:13786405

Pathogenic/Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 16
Condition: not provided
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA741383974

rs_1186667603

3 SubmittersRCV001507284 RCV003738084 RCV006453694

NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)

SNV
Germline

Chr9:133353773

Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA200832964

rs_782214884

3 SubmittersRCV001589557 RCV001866121 RCV003106238

NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)

SNV
Germline

Chr9:133351949

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693354

rs_2119079745

1 SubmittersRCV001779460

NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)

SNV
Germline

Chr20:13801570

Pathogenic/Likely pathogenic

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 16

Criteria Provided
Multiple Submitters
No Conflicts

CA9767821

rs_368690277

4 SubmittersRCV001779523 RCV002307759 RCV003470897

NM_139242.4(MTFMT):c.2T>C (p.Met1Thr)

SNV
Germline

Chr15:65029612

Conflicting classifications of pathogenicity

Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA271504928

rs_1023219835

2 SubmittersRCV001782463 RCV006249769

NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)

SNV
Germline

Chr9:133352707

Pathogenic/Likely pathogenic

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA200832499

rs_782021521

4 SubmittersRCV001797902 RCV002246514 RCV002503285

NM_003172.4(SURF1):c.703A>G (p.Met235Val)

SNV
Germline

Chr9:133352494

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA375693698

rs_782437393

2 SubmittersRCV003107937 RCV001986990

NM_003172.4(SURF1):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr9:133352705

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693983

rs_782420522

1 SubmittersRCV001902056

NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)

SNV
Germline

Chr9:133356301

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA375695075

rs_1187982748

4 SubmittersRCV001951384 RCV002275298 RCV004785417

NM_003172.4(SURF1):c.169G>A (p.Glu57Lys)

SNV
Germline

Chr9:133354895

Conflicting classifications of pathogenicity

Leigh syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200833523

rs_782410389

2 SubmittersRCV001960044 RCV004042082

NM_003172.4(SURF1):c.538G>C (p.Gly180Arg)

SNV
Germline

Chr9:133352744

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375694063

rs_1444801979

2 SubmittersRCV002027283 RCV005868543

NM_003172.4(SURF1):c.324-19T>G

SNV
Germline

Chr9:133353959

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA860709659

rs_369080027

2 SubmittersRCV002100210 RCV006453883

NM_017446.4(MRPL39):c.921+5G>A

SNV
Germline

Chr21:25592807

Pathogenic/Likely pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 59

No Assertion Criteria Provided

CA9985833

rs_375392547

2 SubmittersRCV002286587 RCV003445147

NM_017446.4(MRPL39):c.589-924G>A

SNV
Germline

Chr21:25598338

Pathogenic

Leigh syndrome
Combined oxidative phosphorylation deficiency 59
Mitochondrial disease

Criteria Provided
Single Submitter

CA637178735

rs_1209423257

3 SubmittersRCV002286589 RCV003445149 RCV004785532

NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr9:133356432

Likely pathogenic

Leigh syndrome
SURF1-related disorder

Criteria Provided
Single Submitter

CA375695180

rs_1836590782

2 SubmittersRCV002222921 RCV004758881

NM_024120.5(NDUFAF5):c.519+2T>G

SNV
Germline

Chr20:13798502

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA408270262

rs_2147534220

2 SubmittersRCV002223037 RCV003660912

NM_003172.4(SURF1):c.833+1G>C

SNV
Germline

Chr9:133352060

Pathogenic/Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375693424

rs_782609482

2 SubmittersRCV002240096

NM_002495.4(NDUFS4):c.350+1G>A

SNV
Germline

Chr5:53646406

Pathogenic/Likely pathogenic

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA359719915

rs_1260453815

6 SubmittersRCV002261480 RCV002307852 RCV003464420 RCV005930107

NM_024120.5(NDUFAF5):c.519+2T>C

SNV
Germline

Chr20:13798502

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA408270261

rs_2147534220

2 SubmittersRCV002470127 RCV003708691

NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)

SNV
Germline

Chr11:67611030

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 4
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA224180719

rs_375897089

6 SubmittersRCV002474097 RCV003340498 RCV004587355

NM_003172.4(SURF1):c.589-1G>C

SNV
Germline

Chr9:133352609

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693947

rs_863224227

1 SubmittersRCV003058239

NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)

SNV
Germline

Chr9:133352073

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200832031

rs_781967825

2 SubmittersRCV002585428

NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)

SNV
Germline

Chr9:133352125

Pathogenic/Likely pathogenic

Leigh syndrome
Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA375693551

rs_2490613891

2 SubmittersRCV002650257 RCV005042938

NM_003172.4(SURF1):c.751+1G>A

SNV
Germline

Chr9:133352445

Pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA200832313

rs_782405164

2 SubmittersRCV002979667 RCV006281124

NM_015378.4(VPS13D):c.12662+1059C>G

SNV
Germline

Chr1:12461455

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA2580060573

rs_2521974385

1 SubmittersRCV003110166

NM_003172.4(SURF1):c.187C>T (p.Gln63Ter)

SNV
Germline

Chr9:133354877

Pathogenic

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375694823

rs_2490623421

2 SubmittersRCV003110171 RCV006560995

NC_012920.1(MT-ND5):m.12923G>A

SNV
Germline

ChrMT:12923

Likely pathogenic

Leigh syndrome
MELAS syndrome
Leber optic atrophy

Criteria Provided
Single Submitter

CA414815506

rs_1603223971

1 SubmittersRCV003150916 RCV003150917 RCV003150918

NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr9:133352077

Pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200832039

rs_782076866

2 SubmittersRCV003155662

NM_002495.4(NDUFS4):c.350+1G>T

SNV
Germline

Chr5:53646406

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA359719917

rs_1260453815

1 SubmittersRCV004594688

NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr11:126271616

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA6354012

rs_758408106

1 SubmittersRCV003226822

NM_003172.4(SURF1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr9:133356451

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695219

rs_1442463591

1 SubmittersRCV003510923

NM_003172.4(SURF1):c.321C>A (p.Ala107=)

SNV
Germline

Chr9:133354661

Conflicting classifications of pathogenicity

Leigh syndrome
not specified

Criteria Provided
Conflicting Classifications

CA860710214

rs_141425824

2 SubmittersRCV003511398 RCV005240816

NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)

SNV
Germline

Chr9:133352086

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693477

rs_781924765

1 SubmittersRCV003511461

NM_003172.4(SURF1):c.752-3C>G

SNV
Germline

Chr9:133352145

Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2695211584

rs_2490614044

2 SubmittersRCV003511462

NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr9:133352557

Pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375693835

rs_2119081117

2 SubmittersRCV003511463 RCV005636972

NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)

SNV
Germline

Chr9:133353903

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375694441

rs_2490620007

1 SubmittersRCV003620051

NM_003172.4(SURF1):c.240+1G>A

SNV
Germline

Chr9:133354823

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375694712

rs_781948238

1 SubmittersRCV003621292

NM_003172.4(SURF1):c.588+1G>C

SNV
Germline

Chr9:133352693

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693955

rs_1219762677

1 SubmittersRCV003621468

NM_003172.4(SURF1):c.42G>A (p.Ala14=)

SNV
Germline

Chr9:133356412

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA860712583

rs_1456292063

2 SubmittersRCV003621407 RCV004780621

NM_003172.4(SURF1):c.54+1G>A

SNV
Germline

Chr9:133356399

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695123

rs_1588693774

1 SubmittersRCV003619208

NM_003172.4(SURF1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr9:133356453

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695225

rs_1836592105

1 SubmittersRCV003620271

NM_003172.4(SURF1):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:133356453

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375695224

rs_1836592105

1 SubmittersRCV003877555

NM_005006.7(NDUFS1):c.548T>G (p.Ile183Ser)

SNV
Germline

Chr2:206147534

Likely pathogenic

Mitochondrial complex I deficiency, nuclear type 5
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2470066855

2 SubmittersRCV004594752 RCV006259577

NC_012920.1(MT-ND1):m.3457G>A

SNV
Germline

ChrMT:3457

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005000561

NM_003172.4(SURF1):c.530T>G (p.Val177Gly)

SNV
Germline

Chr9:133352752

Likely pathogenic

Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690690

NM_078470.6(COX15):c.597G>A (p.Trp199Ter)

SNV
Germline

Chr10:99724109

Pathogenic/Likely pathogenic

Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004699825 RCV005023647

NM_024120.5(NDUFAF5):c.425A>C (p.Glu142Ala)

SNV
Germline

Chr20:13794887

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004783321

NM_003172.4(SURF1):c.55-2A>G

SNV
Germline

Chr9:133356322

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005170511

NM_003172.4(SURF1):c.837T>G (p.Tyr279Ter)

SNV
Germline

Chr9:133351979

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005199465

NM_024407.5(NDUFS7):c.335C>T (p.Ala112Val)

SNV
Germline

Chr19:1390977

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005859679

NM_003172.4(SURF1):c.370G>A (p.Gly124Arg)

SNV
Germline

Chr9:133353894

Likely pathogenic

Melanoma
Leigh syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV006022783 RCV006475212

NM_005006.7(NDUFS1):c.419A>G (p.Gln140Arg)

SNV
Germline

Chr2:206147754

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006259815

NM_003172.4(SURF1):c.530T>C (p.Val177Ala)

SNV
Germline

Chr9:133352752

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006505052

NM_003172.4(SURF1):c.784C>T (p.Gln262Ter)

SNV
Germline

Chr9:133352110

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006516333

NM_003172.4(SURF1):c.833+1G>T

SNV
Germline

Chr9:133352060

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006516825

NM_003172.4(SURF1):c.575G>C (p.Arg192Pro)

SNV
Germline

Chr9:133352707

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006583750

NM_003172.4(SURF1):c.770G>A (p.Gly257Glu)

SNV
Germline

Chr9:133352124

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006578910

NM_003172.4(SURF1):c.516-1G>C

SNV
Germline

Chr9:133352767

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006633598