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 Mitochondrial complex III deficiency nuclear type 1 Pili torti-deafness syndrome Leigh syndrome GRACILE syndrome Pili torti-deafness syndrome Mitochondrial complex III deficiency nuclear type 1 Pili torti-deafness syndrome GRACILE syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118015	rs_121908576	19 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989 RCV005016249
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	SNV Germline	Chr2:218661846	Pathogenic	Pili torti-deafness syndrome GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome Pili torti-deafness syndrome Condition: not provided Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118021	rs_121908577	7 SubmittersRCV000006545 RCV001835622 RCV002243624 RCV002476937 RCV002512833 RCV000779835
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	SNV Germline	Chr5:53646371	Pathogenic	Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118548	rs_104893898	8 SubmittersRCV000735424 RCV000578296 RCV002307359 RCV002298437
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 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Condition: not provided Dilated cardiomyopathy 1GG Diffuse midline glioma, H3 K27-altered SDHA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119879	rs_9809219	11 SubmittersRCV000009281 RCV000573113 RCV000456631 RCV000790927 RCV005031432 RCV001818148 RCV003473060 RCV003315222 RCV005417425
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 MELAS syndrome MT-TK-related mitochondrial disorder MT-TK-related disorder Complex hereditary spastic paraplegia	Reviewed By Expert Panel	CA254836	rs_118192098	14 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996
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	Reviewed By Expert Panel	CA120555	rs_118192100	5 SubmittersRCV000010197 RCV000144004 RCV000192053 RCV000850961 RCV003162232
NC_012920.1(MT-TL1):m.3243A>G	SNV Germline/somatic	ChrMT:3243	Pathogenic/Likely pathogenic	MELAS syndrome Cyclical vomiting syndrome Age related macular degeneration 2 Mitochondrial complex IV deficiency, nuclear type 1 3-methylglutaconic aciduria type 1 MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Condition: not provided Mitochondrial disease Short stature Stroke disorder Sensorineural hearing loss disorder Glucose intolerance MELAS syndrome MERRF syndrome Cerebral palsy not specified See cases Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 Maternally-inherited mitochondrial myopathy MELAS syndrome Leigh Syndrome (mtDNA mutation) Hypertrophic cardiomyopathy Diabetes-deafness syndrome maternally transmitted Auditory neuropathy spectrum disorder Leigh syndrome, mitochondrial	Criteria Provided Multiple Submitters No Conflicts	CA120560	rs_199474657	34 SubmittersRCV000010206 RCV000010210 RCV000010209 RCV000010211 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV001794441 RCV002285005 RCV002287327 RCV002250458 RCV004766997 RCV003325938 RCV003984803 RCV004554593
NC_012920.1(MT-ATP6):m.8993T>C	SNV Germline	ChrMT:8993	Pathogenic	Ataxia and polyneuropathy, adult-onset Leigh syndrome Mitochondrial disease NARP syndrome Condition: not provided Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Leber optic atrophy	Reviewed By Expert Panel	CA120596	rs_199476133	11 SubmittersRCV000010276 RCV000010275 RCV000495030 RCV000854390 RCV001268873 RCV000754647 RCV002247300
NC_012920.1(MT-ATP6):m.9176T>C	SNV Germline	ChrMT:9176	Pathogenic	Striatonigral degeneration, infantile, mitochondrial Leigh syndrome Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Condition: not provided Leber optic atrophy Leigh syndrome, mitochondrial Maternally-inherited spastic paraplegia Mitochondrial disease NARP syndrome	Reviewed By Expert Panel	CA120597	rs_199476135	14 SubmittersRCV000010278 RCV000010279 RCV000754652 RCV001027501 RCV001542707 RCV004554599 RCV002251425 RCV002260585 RCV004766998
NC_012920.1(MT-ATP6):m.9185T>C	SNV Germline	ChrMT:9185	Pathogenic	Leigh syndrome Charcot-Marie-Tooth disease Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 Condition: not provided Mitochondrial disease Leber optic atrophy Mitochondrial DNA-Associated Leigh Syndrome and NARP NARP syndrome Charcot-Marie-Tooth disease, type IA	Reviewed By Expert Panel	CA340928	rs_199476138	16 SubmittersRCV000010282 RCV000240612 RCV000754648 RCV001267926 RCV000495689 RCV001542709 RCV002267606 RCV004760325 RCV003224857
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 Condition: not provided Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA340929	rs_199476135	6 SubmittersRCV000010285 RCV000754649 RCV001543462 RCV001542708 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	Reviewed By Expert Panel	CA120618	rs_207459999	3 SubmittersRCV000010318 RCV000855252 RCV004691092
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	Reviewed By Expert Panel	CA340932	rs_199476104	14 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238 RCV004814873 RCV004814874
NC_012920.1(MT-ND6):m.14453G>A	SNV Germline	ChrMT:14453	Likely pathogenic	MELAS syndrome Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA254853	rs_199476107	4 SubmittersRCV000010331 RCV000855109 RCV002260589
NC_012920.1(MT-ND6):m.14487T>C	SNV Germline	ChrMT:14487	Pathogenic	Striatal necrosis, bilateral, with dystonia Leigh syndrome Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial disease MELAS syndrome Leber optic atrophy	Reviewed By Expert Panel	CA120627	rs_199476109	6 SubmittersRCV000010334 RCV000144020 RCV000010333 RCV003162239 RCV005252673 RCV002247307
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	MELAS syndrome Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA120632	rs_267606897	11 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941
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	Reviewed By Expert Panel	CA120633	rs_267606898	5 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592
NC_012920.1(MT-ND4):m.11777C>A	SNV Germline	ChrMT:11777	Likely pathogenic	Mitochondrial complex I deficiency Leber optic atrophy Leigh syndrome Mitochondrial disease Leber optic atrophy and dystonia	Reviewed By Expert Panel	CA120636	rs_28384199	5 SubmittersRCV000010357 RCV000854746 RCV000144013 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 disease Mitochondrial complex I deficiency	Reviewed By Expert Panel	CA120637	rs_267606890	5 SubmittersRCV000010358 RCV000144010 RCV002291212 RCV001542636
NC_012920.1(MT-ND3):m.10158T>C	SNV Germline	ChrMT:10158	Pathogenic	Mitochondrial complex I deficiency, mitochondrial type 1 Condition: not provided Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA120639	rs_199476117	6 SubmittersRCV000010360 RCV000224598 RCV000144009 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 Mitochondrial DNA-Associated Leigh Syndrome and NARP Leigh syndrome not specified Mitochondrial disease Condition: not provided See cases Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	Reviewed By Expert Panel	CA120640	rs_267606891	11 SubmittersRCV000010363 RCV000010362 RCV002247309 RCV000144011 RCV002285008 RCV002291213 RCV000507278 RCV004017234 RCV004767000
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 Optic atrophy Mitochondrial disease MELAS syndrome	Reviewed By Expert Panel	CA120646	rs_199476118	11 SubmittersRCV000010370 RCV000143998 RCV000757484 RCV000735416 RCV004814877 RCV003319165 RCV005252676
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 Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency, nuclear type 4	Criteria Provided Multiple Submitters No Conflicts	CA123735	rs_121913659	13 SubmittersRCV000015100 RCV002468969 RCV000200093 RCV000763271 RCV000735412
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 Mitochondrial complex I deficiency, nuclear type 27 Condition: not provided 6 conditions See cases MTFMT-related disorder Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 27 Combined oxidative phosphorylation defect type 15 MTFMT-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA130599	rs_201431517	21 SubmittersRCV000033047 RCV000190888 RCV000735417 RCV000320667 RCV000415235 RCV002251943 RCV005256554 RCV002513312 RCV002477042 RCV005055532
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	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA203461	rs_62052075	8 SubmittersRCV000265719 RCV000361435 RCV000179820 RCV000676610
NM_001303.4(COX10):c.981C>T (p.Asn327=)	SNV Germline	Chr17:14206862	Conflicting classifications of pathogenicity	not specified Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA290460	rs_146175179	5 SubmittersRCV000124565 RCV000302186 RCV000513362 RCV000366250
NM_001303.4(COX10):c.1096G>T (p.Val366Leu)	SNV Germline	Chr17:14206977	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Mitochondrial complex IV deficiency, nuclear type 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA290464	rs_111541535	5 SubmittersRCV000124567 RCV001127831 RCV001127832 RCV001802947 RCV000961080
NM_001303.4(COX10):c.302C>T (p.Pro101Leu)	SNV Germline	Chr17:14076859	Conflicting classifications of pathogenicity	not specified Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA290476	rs_145948285	3 SubmittersRCV000124573 RCV000975987 RCV001127735 RCV001127736
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 Condition: not provided Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E3 deficiency Leigh syndrome	Criteria Provided Conflicting Classifications	CA303053	rs_61749952	12 SubmittersRCV000179714 RCV000676800 RCV000388010 RCV000999887 RCV000261104
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	4 SubmittersRCV000127100 RCV000275112 RCV000355965 RCV000676557
NM_005006.7(NDUFS1):c.421-7A>G	SNV Germline	Chr2:206147668	Conflicting classifications of pathogenicity	not specified Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 NDUFS1-related disorder	Criteria Provided Conflicting Classifications	CA292482	rs_192949406	6 SubmittersRCV000127139 RCV000296747 RCV000888456 RCV000388644 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 Leigh syndrome Mitochondrial complex I deficiency, nuclear type 5 NDUFS1-related disorder	Criteria Provided Conflicting Classifications	CA232547	rs_78042826	12 SubmittersRCV000195297 RCV000513877 RCV000605317 RCV001143218 RCV001143217 RCV001282631 RCV003925255
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	SNV Germline	Chr2:206138506	Conflicting classifications of pathogenicity	not specified Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency, nuclear type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA292489	rs_2230892	6 SubmittersRCV000127145 RCV000298259 RCV000399898 RCV001000338 RCV000676270
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)	SNV Germline	Chr11:47582432	Conflicting classifications of pathogenicity	not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Mitochondrial complex I deficiency, nuclear type 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA292502	rs_77113494	7 SubmittersRCV000127155 RCV001107482 RCV001107483 RCV001000472 RCV000969794
NM_004551.3(NDUFS3):c.628-7C>T	SNV Germline	Chr11:47584307	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 not specified Condition: not provided Mitochondrial complex I deficiency, nuclear type 8 NDUFS3-related disorder	Criteria Provided Conflicting Classifications	CA292504	rs_11039306	6 SubmittersRCV000292090 RCV000383892 RCV000127156 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 Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA292511	rs_140236960	6 SubmittersRCV000127162 RCV000365710 RCV000301558 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 Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA293431	rs_61753148	8 SubmittersRCV000128008 RCV000224328 RCV000273401 RCV000330754
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_003172.4(SURF1):c.54+10G>A	SNV Germline	Chr9:133356390	Conflicting classifications of pathogenicity	not specified Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA293839	rs_587598397	6 SubmittersRCV000128346 RCV000329138 RCV000676736
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 Pheochromocytoma/paraganglioma syndrome 5 Hereditary pheochromocytoma-paraganglioma Condition: not provided	Criteria Provided Conflicting Classifications	CA345710	rs_142849100	16 SubmittersRCV000129664 RCV000203785 RCV000246464 RCV000314076 RCV000362684 RCV003315880 RCV000399972 RCV001357190
NM_004168.4(SDHA):c.512G>A (p.Arg171His)	SNV Germline	Chr5:225938	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma-paraganglioma Pheochromocytoma/paraganglioma syndrome 5 Gastrointestinal stromal tumor Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA166671	rs_587782076	8 SubmittersRCV000130572 RCV000512840 RCV000466700 RCV001153307 RCV001153308 RCV001153309 RCV004786391 RCV001799623 RCV003474764
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 Condition: not provided Carney triad Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Rhabdomyosarcoma Pilocytic astrocytoma Mitochondrial complex II deficiency, nuclear type 1 Gastrointestinal stromal tumor Neurodegeneration with ataxia and late-onset optic atrophy SDHA-related disorder Dilated cardiomyopathy 1GG Intellectual disability Leigh syndrome Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Neurodegeneration with ataxia and late-onset optic atrophy	Criteria Provided Conflicting Classifications	CA168793	rs_142441643	44 SubmittersRCV000131808 RCV000148026 RCV000413945 RCV000170328 RCV000627791 RCV001257553 RCV000722034 RCV001762318 RCV001799624 RCV003330507 RCV003335126 RCV003474779 RCV005625311 RCV001089554 RCV002478402
NC_012920.1(MT-ND1):m.3890G>A	SNV Germline	ChrMT:3890	Likely pathogenic	Leigh syndrome Mitochondrial disease not specified	Reviewed By Expert Panel	CA345911	rs_587776434	3 SubmittersRCV000144000 RCV002260617 RCV002285011
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
NC_012920.1(MT-ATP6):m.8839G>C	SNV Germline	ChrMT:8839	Pathogenic	Leigh syndrome Mitochondrial disease	No Assertion Criteria Provided	CA345921	rs_1556423547	2 SubmittersRCV000144024 RCV000495688
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 Condition: not provided Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA214806	rs_587776498	7 SubmittersRCV000144497 RCV000481050 RCV000167582
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 Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Neurodegeneration with ataxia and late-onset optic atrophy 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	Criteria Provided Multiple Submitters No Conflicts	CA188615	rs_200397144	14 SubmittersRCV000148027 RCV000163558 RCV000464783 RCV000765834 RCV000762143 RCV001824123 RCV003474794 RCV005394505
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	SNV Germline	Chr7:107893260	Conflicting classifications of pathogenicity	Leigh syndrome Pyruvate dehydrogenase complex deficiency not specified Pyruvate dehydrogenase E3 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA312448	rs_138002793	11 SubmittersRCV000281549 RCV000317845 RCV000367820 RCV000376021 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 Mitochondrial disease Leigh syndrome not specified	Reviewed By Expert Panel	CA250381	rs_797045055	4 SubmittersRCV000191107 RCV004791314 RCV000855132 RCV002247618
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 Leigh syndrome Mitochondrial complex III deficiency nuclear type 1 GRACILE syndrome	Criteria Provided Conflicting Classifications	CA325107	rs_144200704	5 SubmittersRCV000200525 RCV000886562 RCV001140093 RCV001140092 RCV001140853
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)	SNV Germline	Chr2:218661911	Conflicting classifications of pathogenicity	BCS1L-related disorder Mitochondrial complex III deficiency nuclear type 1 not specified Condition: not provided GRACILE syndrome Leigh syndrome	Criteria Provided Conflicting Classifications	CA325212	rs_148278887	8 SubmittersRCV000714568 RCV001137961 RCV000200623 RCV000949252 RCV001137963 RCV001137962
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	Leigh syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Condition: not provided LRPPRC-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA324447	rs_200686732	9 SubmittersRCV000986628 RCV001137778 RCV000901776 RCV003937736 RCV002517228
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	3 SubmittersRCV000198638 RCV001151560 RCV001151559 RCV003917799
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)	SNV Germline	Chr5:53560672	Conflicting classifications of pathogenicity	not specified Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA325091	rs_185711494	3 SubmittersRCV000335188 RCV001154575 RCV000960853 RCV001154576
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	7 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	Criteria Provided Conflicting Classifications	CA322228	rs_587669420	6 SubmittersRCV000699472 RCV001699229
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 Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1 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	Criteria Provided Conflicting Classifications	CA321229	rs_200702528	5 SubmittersRCV000196814 RCV001215689 RCV002222439 RCV002517263
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	3 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.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	7 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	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial complex I deficiency, nuclear type 4 Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	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 Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA320641	rs_200417926	3 SubmittersRCV000196215 RCV001104932 RCV001104931 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	Leigh syndrome Condition: not provided 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 SubmittersRCV000765008 RCV000726015 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 Leigh syndrome Hereditary pheochromocytoma-paraganglioma Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Condition: not provided Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA069792	rs_367721665	10 SubmittersRCV000208222 RCV000228322 RCV000283732 RCV000342145 RCV000411374 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 Leigh syndrome Hereditary pheochromocytoma-paraganglioma Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 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 RCV000308179 RCV000347454 RCV000410936 RCV000401643 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 Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma-paraganglioma Pheochromocytoma/paraganglioma syndrome 5 Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA358579	rs_149875171	16 SubmittersRCV000210523 RCV000247565 RCV000570838 RCV001080809 RCV001157831 RCV001157832 RCV001157833 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-paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 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 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA358571	rs_187964306	11 SubmittersRCV000216190 RCV000224380 RCV000282383 RCV000349064 RCV000374489 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-paraganglioma not specified Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA358575	rs_34771391	13 SubmittersRCV000210510 RCV000287211 RCV000317795 RCV000372488 RCV000426962 RCV000570502 RCV003316165 RCV003736642 RCV005396686
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 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma-paraganglioma 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 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA358583	rs_35964044	14 SubmittersRCV000210529 RCV000242588 RCV000291485 RCV000346462 RCV000376037 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-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 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA358577	rs_34779890	13 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 Leigh syndrome Mitochondrial complex I deficiency, nuclear type 16 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA358016	rs_761389904	8 SubmittersRCV000210569 RCV000679869 RCV001275555 RCV001507280 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 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Dilated cardiomyopathy 1GG Condition: not provided	Criteria Provided Conflicting Classifications	CA3172957	rs_571292356	9 SubmittersRCV000214276 RCV000230633 RCV000663181 RCV000765826 RCV004567619 RCV003477750
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)	SNV Germline	Chr5:256398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided not specified Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173475	rs_377632619	8 SubmittersRCV000217918 RCV000333745 RCV000275247 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 Hereditary pheochromocytoma-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172819	rs_201453889	4 SubmittersRCV000233726 RCV000274933 RCV000389166 RCV000332396 RCV000564203 RCV005420912
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-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Condition: not provided Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 not specified	Criteria Provided Conflicting Classifications	CA3172820	rs_375576259	8 SubmittersRCV000228365 RCV000287726 RCV000345164 RCV000383376 RCV000572868 RCV003477820 RCV003475076 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 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma-paraganglioma Condition: not provided SDHA-related disorder Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172993	rs_140243793	7 SubmittersRCV000234552 RCV000567901 RCV001153420 RCV001153422 RCV001153421 RCV003430784 RCV004541406 RCV005420919
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-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Condition: not provided not specified SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3173313	rs_376391115	9 SubmittersRCV000226282 RCV000565244 RCV000663186 RCV001153644 RCV001153645 RCV001153646 RCV002253311 RCV002267990 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 Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Leigh syndrome Hereditary pheochromocytoma-paraganglioma SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3173479	rs_191412461	14 SubmittersRCV000227636 RCV000409751 RCV000563763 RCV001158018 RCV000998351 RCV001158017 RCV001158019 RCV004529398
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)	SNV Germline	Chr9:133352696	Pathogenic	Leigh syndrome Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K SURF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10584085	rs_147816470	5 SubmittersRCV000235079 RCV000578885 RCV005044488 RCV004554757
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)	SNV Germline	Chr5:233583	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma-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 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary pheochromocytoma-paraganglioma Pheochromocytoma/paraganglioma syndrome 5 Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173306	rs_35502109	16 SubmittersRCV000239362 RCV000242066 RCV000569690 RCV001153642 RCV001153643 RCV001081440 RCV001153641 RCV003316319 RCV005396843
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)	SNV Germline	Chr5:224364	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 not specified Condition: not provided Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Dilated cardiomyopathy 1GG Neurodegeneration with ataxia and late-onset optic atrophy Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172744	rs_377470390	10 SubmittersRCV000239368 RCV000565564 RCV000764599 RCV001820793 RCV003137852 RCV003313064 RCV003475849 RCV005031828 RCV005420930
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)	SNV Germline	Chr5:256344	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3173461	rs_372480044	8 SubmittersRCV000239361 RCV000574591 RCV000663177 RCV000765835 RCV000836807 RCV004586651
NM_004168.4(SDHA):c.549C>T (p.Gly183=)	SNV Germline	Chr5:225975	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Hereditary pheochromocytoma-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 not specified 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 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172874	rs_61733344	15 SubmittersRCV000239367 RCV000291747 RCV000339713 RCV000394814 RCV000418051 RCV000571465 RCV001800618 RCV003316320 RCV005396845
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)	SNV Germline	Chr5:233572	Conflicting classifications of pathogenicity	Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 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 Mitochondrial complex I deficiency, nuclear type 16 Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 1 Mitochondrial complex I deficiency NDUFAF5-related disorder Leigh syndrome	Criteria Provided Multiple Submitters No Conflicts	CA9767701	rs_150613320	13 SubmittersRCV000255420 RCV001507283 RCV001266325 RCV001824717 RCV001833296 RCV004757983 RCV004701358
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	Criteria Provided Conflicting Classifications	CA5642274	rs_200910834	7 SubmittersRCV000006553 RCV000266470 RCV002469094
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)	SNV Germline	Chr9:133352509	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	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	3 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_004544.4(NDUFA10):c.749+11C>T	SNV Germline	Chr2:240011606	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2200881	rs_200760509	3 SubmittersRCV000305494 RCV000360176 RCV001672578
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 Mitochondrial complex I deficiency, nuclear type 5 Condition: not provided See cases Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2070426	rs_137889316	10 SubmittersRCV000348996 RCV000397471 RCV001728094 RCV001861145 RCV002252098 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 GRACILE syndrome not specified Condition: not provided BCS1L-related disorder	Criteria Provided Conflicting Classifications	CA2109770	rs_112329020	5 SubmittersRCV000311482 RCV000351273 RCV000401551 RCV000426045 RCV000913045 RCV004732851
NM_004544.3(NDUFA10):c.-93G>T	SNV Germline	Chr2:240025394	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10614726	rs_577432343	2 SubmittersRCV000300216 RCV000350479 RCV002263607
NM_133259.4(LRPPRC):c.1677+7C>T	SNV Germline	Chr2:43950566	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1638839	rs_374995996	2 SubmittersRCV000321679 RCV001443264
NM_004168.4(SDHA):c.723C>T (p.Asp241=)	SNV Germline	Chr5:228286	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma-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 Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3172951	rs_146653693	16 SubmittersRCV000275715 RCV000334152 RCV000381733 RCV000457962 RCV000562470 RCV001529253 RCV001821078 RCV005398480 RCV005420942
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-paraganglioma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10620256	rs_886060515	3 SubmittersRCV000260734 RCV000316002 RCV000355512 RCV004695857 RCV002446606
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_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-paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Neurodegeneration with ataxia and late-onset optic atrophy Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA3172673	rs_560932680	6 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-paraganglioma Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA3173301	rs_766352407	4 SubmittersRCV000287976 RCV000352061 RCV000396802 RCV000461471 RCV001012256 RCV003475935
NM_004168.4(SDHA):c.*133G>C	SNV Germline	Chr5:256553	Conflicting classifications of pathogenicity	Leigh syndrome Hereditary pheochromocytoma-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	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3278114	rs_537327206	2 SubmittersRCV000351951 RCV000399037 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	Criteria Provided Conflicting Classifications	CA6143135	rs_184136353	2 SubmittersRCV000307097 RCV000363981 RCV002056232
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 Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 NDUFS3-related disorder	Criteria Provided Conflicting Classifications	CA5978099	rs_117981655	4 SubmittersRCV000284678 RCV000939941 RCV000406732 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	Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8393457	rs_139771078	7 SubmittersRCV000265637 RCV000324448 RCV003137923 RCV002061215 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	Criteria Provided Conflicting Classifications	CA8402358	rs_371273328	3 SubmittersRCV000328617 RCV000383020 RCV001564175
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=)	SNV Germline	Chr11:67609539	Conflicting classifications of pathogenicity	Leigh syndrome Mitochondrial complex I deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6143165	rs_148461900	3 SubmittersRCV000318618 RCV000353349 RCV001310971
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	4 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 Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA9043328	rs_375120743	3 SubmittersRCV000307576 RCV000891844 RCV000405173
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	Criteria Provided Conflicting Classifications	CA8402373	rs_199668725	6 SubmittersRCV000288666 RCV000343670 RCV000829183
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 Condition: not provided Leigh syndrome Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications	CA3172666	rs_751633537	15 SubmittersRCV000411889 RCV000425129 RCV000756629 RCV001151933 RCV000649475 RCV002255377 RCV001151931 RCV001151932
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)	SNV Germline	Chr5:233636	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Hereditary pheochromocytoma-paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 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 Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA3173073	rs_199844384	13 SubmittersRCV000411606 RCV000563279 RCV000765832 RCV000463749 RCV000498298 RCV001153526 RCV001153527 RCV001153528 RCV003483608 RCV005033927 RCV003475997
NM_003172.4(SURF1):c.751+5G>A	SNV Germline	Chr9:133352441	Conflicting classifications of pathogenicity	Condition: not provided Cerebellar ataxia Abnormal pyramidal sign Muscle weakness Dysarthria not specified Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome Charcot-Marie-Tooth disease type 4K Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA16042683	rs_781934508	6 SubmittersRCV000413105 RCV000626843 RCV005238967 RCV002283477 RCV002523941 RCV005044629
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 NDUFS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2070717	rs_148544177	4 SubmittersRCV000419653 RCV001138898 RCV001138899 RCV003950361 RCV002061445
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	6 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 Condition: not provided GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Leigh syndrome BCS1L-related disorder	Criteria Provided Conflicting Classifications	CA2109755	rs_148302981	4 SubmittersRCV000438295 RCV002521706 RCV001138378 RCV001138379 RCV001138380 RCV004539845
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=)	SNV Germline	Chr5:53603503	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA3264190	rs_142368721	3 SubmittersRCV000906096 RCV001157095 RCV001157096
NM_000108.5(DLD):c.321A>G (p.Ala107=)	SNV Germline	Chr7:107903531	Conflicting classifications of pathogenicity	Leigh syndrome Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase complex deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4434418	rs_138398782	4 SubmittersRCV001160216 RCV000898845 RCV001163571 RCV001703709
NM_004168.4(SDHA):c.895+13G>A	SNV Germline	Chr5:231013	Conflicting classifications of pathogenicity	not specified Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Leigh syndrome Hereditary pheochromocytoma-paraganglioma Mitochondrial complex II deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA3173017	rs_201461936	4 SubmittersRCV000440704 RCV000662985 RCV002256236 RCV001157730 RCV001157731 RCV001157732
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	4 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 Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6143092	rs_199963966	3 SubmittersRCV000444487 RCV001105991 RCV001105992 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 Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6143466	rs_147719815	3 SubmittersRCV000426011 RCV001105040 RCV001105039 RCV003766367
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)	SNV Germline	Chr11:68033166	Conflicting classifications of pathogenicity	not specified NDUFS8-related disorder Condition: not provided Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA6146432	rs_144125742	8 SubmittersRCV000431887 RCV003912624 RCV000676967 RCV001111479 RCV001111480
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	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA9043125	rs_147710123	3 SubmittersRCV001123144 RCV001127213 RCV001698192
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)	SNV Germline	Chr5:240452	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Condition: not provided Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173266	rs_746453879	6 SubmittersRCV000573305 RCV001152360 RCV001152358 RCV001152359 RCV003478054 RCV000473824 RCV005421900
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)	SNV Germline	Chr5:233595	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma-paraganglioma Leigh syndrome Condition: not provided SDHA-related disorder Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA3173065	rs_201341132	6 SubmittersRCV000456689 RCV000563364 RCV001152244 RCV001152246 RCV001310840 RCV004535493 RCV005421894 RCV001152245
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)	SNV Germline	Chr5:233536	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Pheochromocytoma/paraganglioma syndrome 5 Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 not specified Pheochromocytoma/paraganglioma syndrome 5 Hereditary cancer-predisposing syndrome Condition: not provided Dilated cardiomyopathy 1GG	Criteria Provided Conflicting Classifications	CA3173042	rs_377509915	11 SubmittersRCV000462816 RCV000765829 RCV001821296 RCV005421813 RCV000565889 RCV002272249 RCV003476127
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)	SNV Germline	Chr5:251399	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome Hereditary pheochromocytoma-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Condition: not provided Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173340	rs_758252610	5 SubmittersRCV000561801 RCV000466412 RCV001156240 RCV001156241 RCV001156242 RCV003478052 RCV005421878
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)	SNV Germline	Chr5:218360	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Mitochondrial complex II deficiency, nuclear type 1 Dilated cardiomyopathy 1GG Leigh syndrome Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3172677	rs_780064103	7 SubmittersRCV000473246 RCV001153198 RCV004568122 RCV001153199 RCV001153200 RCV000569083 RCV003225073
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr6:98899281	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 13 Inborn genetic diseases Leigh syndrome	Criteria Provided Conflicting Classifications	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_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 Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome 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 Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome COX10-related disorder	Criteria Provided Conflicting Classifications	CA8402598	rs_113058506	8 SubmittersRCV000514768 RCV000603785 RCV001122055 RCV001122054 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-paraganglioma Leigh syndrome SDHA-related disorder Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173134	rs_778667374	5 SubmittersRCV000541698 RCV001010227 RCV001156143 RCV001156144 RCV001157830 RCV004735622 RCV005422058
NM_004168.4(SDHA):c.-2A>T	SNV Germline	Chr5:218354	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma-paraganglioma Condition: not provided	Criteria Provided Conflicting Classifications	CA3172671	rs_763680697	5 SubmittersRCV000564955 RCV001153196 RCV001151934 RCV001153197 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	Condition: not provided not specified Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA3278200	rs_9885480	7 SubmittersRCV000585479 RCV000602804 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	Criteria Provided Multiple Submitters No Conflicts	CA3264179	rs_376281345	7 SubmittersRCV000007294 RCV000588112 RCV003558447 RCV005357776
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	Leigh syndrome Condition: not provided See cases COX15-related disorder Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Criteria Provided Multiple Submitters No Conflicts	CA5642259	rs_149718203	9 SubmittersRCV000586150 RCV000599531 RCV002252173 RCV004757251 RCV000033254
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	SNV Germline	Chr11:67611973	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial complex I deficiency, nuclear type 4 Leigh syndrome NDUFV1-related disorder Mitochondrial complex I deficiency, nuclear type	Criteria Provided Multiple Submitters No Conflicts	CA6143414	rs_536758576	13 SubmittersRCV000592779 RCV001783094 RCV001731801 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	Criteria Provided Conflicting Classifications	CA5978089	rs_3740654	3 SubmittersRCV000614898 RCV001103853 RCV001103854 RCV002531615
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	4 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-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 Condition: not provided Leigh syndrome Pyruvate dehydrogenase complex deficiency	Criteria Provided Conflicting Classifications	CA4434339	rs_144038427	4 SubmittersRCV000701637 RCV001561816 RCV001163783 RCV001163784
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 Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375693425	rs_782609482	5 SubmittersRCV000735985 RCV000781906 RCV002272341 RCV001784364
NM_003172.4(SURF1):c.516-2A>G	SNV Germline	Chr9:133352768	Pathogenic	not specified Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA200832536	rs_782682492	4 SubmittersRCV000780770 RCV001242611 RCV001726326
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 GRACILE syndrome Mitochondrial complex III deficiency nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA2109810	rs_146731467	5 SubmittersRCV000825116 RCV000885856 RCV001140960 RCV001140961 RCV001140962
NC_012920.1(MT-ATP6):m.9035T>C	SNV Germline	ChrMT:9035	Likely pathogenic	Progressive cerebellar ataxia Leigh syndrome See cases MT-ATP6-related primary mitochondrial disease Leber optic atrophy Mitochondrial disease NARP syndrome	Reviewed By Expert Panel	CA414801955	rs_1603222000	10 SubmittersRCV000851177 RCV000854406 RCV001196557 RCV002466594 RCV002249546 RCV002260672 RCV004768714
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-CO1):m.6526T>C	SNV Germline	ChrMT:6526	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA414784550	rs_1603220522	1 SubmittersRCV000853981
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
NC_012920.1(MT-ATP6):m.9049G>A	SNV Germline	ChrMT:9049	Likely pathogenic	Leigh syndrome Progressive spastic paraparesis Cerebellar ataxia Abnormal basal ganglia MRI signal intensity Gonadal dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA414802017	rs_1603222011	2 SubmittersRCV000854410 RCV000993792
NC_012920.1(MT-ATP6):m.9134A>G	SNV Germline	ChrMT:9134	Likely pathogenic	Leigh syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA414802276	rs_1603222119	2 SubmittersRCV000854453 RCV004697014
NM_003172.4(SURF1):c.321C>T (p.Ala107=)	SNV Germline	Chr9:133354661	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200833334	rs_141425824	3 SubmittersRCV000874503 RCV001593100
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-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	Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided Leigh syndrome	Criteria Provided Conflicting Classifications	CA6143223	rs_151104852	3 SubmittersRCV001103034 RCV000898339 RCV001103033
NM_004589.4(SCO1):c.579G>T (p.Leu193=)	SNV Germline	Chr17:10691948	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1 Leigh syndrome SCO1-related disorder	Criteria Provided Conflicting Classifications	CA8393553	rs_376145746	3 SubmittersRCV000906371 RCV001124445 RCV001124446 RCV004531046
NM_001303.4(COX10):c.260C>T (p.Thr87Ile)	SNV Germline	Chr17:14076817	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA8402283	rs_144000161	4 SubmittersRCV001127733 RCV000899247 RCV001127734
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	6 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	4 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 Pheochromocytoma/paraganglioma syndrome 5 Mitochondrial complex II deficiency, nuclear type 1 Mitochondrial complex II deficiency, nuclear type 1 Hereditary pheochromocytoma-paraganglioma Leigh syndrome Condition: not provided Dilated cardiomyopathy 1GG SDHA-related disorder	Criteria Provided Conflicting Classifications	CA3173130	rs_372989971	6 SubmittersRCV001010145 RCV001238661 RCV001156140 RCV001156141 RCV001156142 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	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8393733	rs_61753148	2 SubmittersRCV001124544 RCV001124543 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	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA288081256	rs_143758001	2 SubmittersRCV001124825 RCV001124826 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	Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9043133	rs_565395435	3 SubmittersRCV001123145 RCV001123146 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.354C>T (p.Tyr118=)	SNV Germline	Chr2:240021303	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1 Leigh syndrome NDUFA10-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2201081	rs_118106981	4 SubmittersRCV001141071 RCV001141072 RCV003928737 RCV002285448
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	Criteria Provided Conflicting Classifications	CA68073082	rs_928084265	3 SubmittersRCV001138192 RCV001138193 RCV004032319 RCV005394759
NM_004168.4(SDHA):c.*249T>C	SNV Germline	Chr5:256669	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma-paraganglioma Mitochondrial complex II deficiency, nuclear type 1 Leigh syndrome	Criteria Provided Conflicting Classifications	CA112784663	rs_189989110	1 SubmittersRCV001153828 RCV001153829 RCV001153830
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	Hereditary pheochromocytoma-paraganglioma Leigh syndrome Mitochondrial complex II deficiency, nuclear type 1 Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 5	Criteria Provided Conflicting Classifications	CA3173036	rs_774043076	3 SubmittersRCV001157734 RCV001157733 RCV001157735 RCV002256692 RCV005423854
NM_000108.5(DLD):c.30C>A (p.Ser10=)	SNV Germline	Chr7:107891280	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E3 deficiency Leigh syndrome	Criteria Provided Conflicting Classifications	CA164237587	rs_779166996	2 SubmittersRCV001163466 RCV001163465 RCV001163467
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	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 17	Criteria Provided Multiple Submitters No Conflicts	CA4814749	rs_753873681	6 SubmittersRCV001556391 RCV001249207 RCV003152754
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	Criteria Provided Conflicting Classifications	CA6143377	rs_201992354	4 SubmittersRCV001249206 RCV001267713 RCV001879751
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)	SNV Germline	Chr20:13801528	Likely pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA9767811	rs_200756131	1 SubmittersRCV001249209
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	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 16 NDUFAF5-related disorder	Criteria Provided Conflicting Classifications	CA9767782	rs_749288299	4 SubmittersRCV001773584 RCV001279569 RCV003469500 RCV004758155
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)	SNV Germline	Chr20:13801583	Conflicting classifications of pathogenicity	Leigh syndrome Inborn genetic diseases Mitochondrial complex I deficiency, nuclear type 16 Condition: not provided	Criteria Provided Conflicting Classifications	CA9767826	rs_141758325	5 SubmittersRCV001279573 RCV002537856 RCV002480914 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_003172.4(SURF1):c.491C>T (p.Thr164Ile)	SNV Germline	Chr9:133353773	Conflicting classifications of pathogenicity	Condition: not provided Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	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
NC_012920.1(MT-ND1):m.3685T>C	SNV Germline	ChrMT:3685	Likely pathogenic	Leigh syndrome	No Assertion Criteria Provided	CA414773304	rs_1603219079	1 SubmittersRCV001797044
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 Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K	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	Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 1	Criteria Provided Conflicting Classifications	CA375693698	rs_782437393	2 SubmittersRCV001986990 RCV003107937
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	Criteria Provided Single Submitter	CA375694063	rs_1444801979	1 SubmittersRCV002027283
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/somatic	Chr5:53646406	Pathogenic/Likely pathogenic	Condition: not provided Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1	Criteria Provided Multiple Submitters No Conflicts	CA359719915	rs_1260453815	4 SubmittersRCV002261480 RCV002307852 RCV003464420
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 Mitochondrial complex IV deficiency, nuclear type 1 Charcot-Marie-Tooth disease type 4K	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	Criteria Provided Single Submitter	CA200832313	rs_782405164	1 SubmittersRCV002979667
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
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 Single Submitter	CA2695211584	rs_2490614044	1 SubmittersRCV003511462
NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)	SNV Germline	Chr9:133352557	Pathogenic	Leigh syndrome	Criteria Provided Single Submitter	CA375693835	rs_2119081117	1 SubmittersRCV003511463
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
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_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
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Leigh syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118015

rs_121908576

19 SubmittersRCV000006544 RCV000195481 RCV000260660 RCV000576565 RCV000763069 RCV003472989 RCV005016249

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

SNV
Germline

Chr2:218661846

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118021

rs_121908577

7 SubmittersRCV000006545 RCV001835622 RCV002243624 RCV002476937 RCV002512833 RCV000779835

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

SNV
Germline

Chr5:53646371

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118548

rs_104893898

8 SubmittersRCV000735424 RCV000578296 RCV002307359 RCV002298437

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119879

rs_9809219

11 SubmittersRCV000009281 RCV000573113 RCV000456631 RCV000790927 RCV005031432 RCV001818148 RCV003473060 RCV003315222 RCV005417425

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
MELAS syndrome
MT-TK-related mitochondrial disorder
MT-TK-related disorder
Complex hereditary spastic paraplegia

Reviewed By Expert Panel

CA254836

rs_118192098

14 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996

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

Reviewed By Expert Panel

CA120555

rs_118192100

5 SubmittersRCV000010197 RCV000144004 RCV000192053 RCV000850961 RCV003162232

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

SNV
Germline/somatic

ChrMT:3243

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA120560

rs_199474657

34 SubmittersRCV000010206 RCV000010210 RCV000010209 RCV000010211 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV001794441 RCV002285005 RCV002287327 RCV002250458 RCV004766997 RCV003325938 RCV003984803 RCV004554593

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

SNV
Germline

ChrMT:8993

Pathogenic

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

Reviewed By Expert Panel

CA120596

rs_199476133

11 SubmittersRCV000010276 RCV000010275 RCV000495030 RCV000854390 RCV001268873 RCV000754647 RCV002247300

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

SNV
Germline

ChrMT:9176

Pathogenic

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

Reviewed By Expert Panel

CA120597

rs_199476135

14 SubmittersRCV000010278 RCV000010279 RCV000754652 RCV001027501 RCV001542707 RCV004554599 RCV002251425 RCV002260585 RCV004766998

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

SNV
Germline

ChrMT:9185

Pathogenic

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

Reviewed By Expert Panel

CA340928

rs_199476138

16 SubmittersRCV000010282 RCV000240612 RCV000754648 RCV001267926 RCV000495689 RCV001542709 RCV002267606 RCV004760325 RCV003224857

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
Condition: not provided
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA340929

rs_199476135

6 SubmittersRCV000010285 RCV000754649 RCV001543462 RCV001542708 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

Reviewed By Expert Panel

CA120618

rs_207459999

3 SubmittersRCV000010318 RCV000855252 RCV004691092

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

Reviewed By Expert Panel

CA340932

rs_199476104

14 SubmittersRCV000010325 RCV000144018 RCV000223709 RCV003162238 RCV004814873 RCV004814874

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

SNV
Germline

ChrMT:14453

Likely pathogenic

MELAS syndrome
Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA254853

rs_199476107

4 SubmittersRCV000010331 RCV000855109 RCV002260589

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

SNV
Germline

ChrMT:14487

Pathogenic

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

Reviewed By Expert Panel

CA120627

rs_199476109

6 SubmittersRCV000010334 RCV000144020 RCV000010333 RCV003162239 RCV005252673 RCV002247307

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

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

Reviewed By Expert Panel

CA120632

rs_267606897

11 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941

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

Reviewed By Expert Panel

CA120633

rs_267606898

5 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592

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

SNV
Germline

ChrMT:11777

Likely pathogenic

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

Reviewed By Expert Panel

CA120636

rs_28384199

5 SubmittersRCV000010357 RCV000854746 RCV000144013 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 disease
Mitochondrial complex I deficiency

Reviewed By Expert Panel

CA120637

rs_267606890

5 SubmittersRCV000010358 RCV000144010 RCV002291212 RCV001542636

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

SNV
Germline

ChrMT:10158

Pathogenic

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

Reviewed By Expert Panel

CA120639

rs_199476117

6 SubmittersRCV000010360 RCV000224598 RCV000144009 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
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Leigh syndrome
not specified
Mitochondrial disease
Condition: not provided
See cases
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

Reviewed By Expert Panel

CA120640

rs_267606891

11 SubmittersRCV000010363 RCV000010362 RCV002247309 RCV000144011 RCV002285008 RCV002291213 RCV000507278 RCV004017234 RCV004767000

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
Optic atrophy
Mitochondrial disease
MELAS syndrome

Reviewed By Expert Panel

CA120646

rs_199476118

11 SubmittersRCV000010370 RCV000143998 RCV000757484 RCV000735416 RCV004814877 RCV003319165 RCV005252676

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123735

rs_121913659

13 SubmittersRCV000015100 RCV002468969 RCV000200093 RCV000763271 RCV000735412

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

Criteria Provided
Multiple Submitters
No Conflicts

CA130599

rs_201431517

21 SubmittersRCV000033047 RCV000190888 RCV000735417 RCV000320667 RCV000415235 RCV002251943 RCV005256554 RCV002513312 RCV002477042 RCV005055532

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

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

Criteria Provided
Conflicting Classifications

CA203461

rs_62052075

8 SubmittersRCV000265719 RCV000361435 RCV000179820 RCV000676610

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

SNV
Germline

Chr17:14206862

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290460

rs_146175179

5 SubmittersRCV000124565 RCV000302186 RCV000513362 RCV000366250

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

SNV
Germline

Chr17:14206977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290464

rs_111541535

5 SubmittersRCV000124567 RCV001127831 RCV001127832 RCV001802947 RCV000961080

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

SNV
Germline

Chr17:14076859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA290476

rs_145948285

3 SubmittersRCV000124573 RCV000975987 RCV001127735 RCV001127736

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

Criteria Provided
Conflicting Classifications

CA303053

rs_61749952

12 SubmittersRCV000179714 RCV000676800 RCV000388010 RCV000999887 RCV000261104

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

4 SubmittersRCV000127100 RCV000275112 RCV000355965 RCV000676557

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

SNV
Germline

Chr2:206147668

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292482

rs_192949406

6 SubmittersRCV000127139 RCV000296747 RCV000888456 RCV000388644 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
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 5
NDUFS1-related disorder

Criteria Provided
Conflicting Classifications

CA232547

rs_78042826

12 SubmittersRCV000195297 RCV000513877 RCV000605317 RCV001143218 RCV001143217 RCV001282631 RCV003925255

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

SNV
Germline

Chr2:206138506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292489

rs_2230892

6 SubmittersRCV000127145 RCV000298259 RCV000399898 RCV001000338 RCV000676270

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

SNV
Germline

Chr11:47582432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292502

rs_77113494

7 SubmittersRCV000127155 RCV001107482 RCV001107483 RCV001000472 RCV000969794

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

SNV
Germline

Chr11:47584307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292504

rs_11039306

6 SubmittersRCV000292090 RCV000383892 RCV000127156 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
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292511

rs_140236960

6 SubmittersRCV000127162 RCV000365710 RCV000301558 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
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA293431

rs_61753148

8 SubmittersRCV000128008 RCV000224328 RCV000273401 RCV000330754

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_003172.4(SURF1):c.54+10G>A

SNV
Germline

Chr9:133356390

Conflicting classifications of pathogenicity

not specified
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293839

rs_587598397

6 SubmittersRCV000128346 RCV000329138 RCV000676736

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
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma-paraganglioma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA345710

rs_142849100

16 SubmittersRCV000129664 RCV000203785 RCV000246464 RCV000314076 RCV000362684 RCV003315880 RCV000399972 RCV001357190

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

SNV
Germline

Chr5:225938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166671

rs_587782076

8 SubmittersRCV000130572 RCV000512840 RCV000466700 RCV001153307 RCV001153308 RCV001153309 RCV004786391 RCV001799623 RCV003474764

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

Criteria Provided
Conflicting Classifications

CA168793

rs_142441643

44 SubmittersRCV000131808 RCV000148026 RCV000413945 RCV000170328 RCV000627791 RCV001257553 RCV000722034 RCV001762318 RCV001799624 RCV003330507 RCV003335126 RCV003474779 RCV005625311 RCV001089554 RCV002478402

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

SNV
Germline

ChrMT:3890

Likely pathogenic

Leigh syndrome
Mitochondrial disease
not specified

Reviewed By Expert Panel

CA345911

rs_587776434

3 SubmittersRCV000144000 RCV002260617 RCV002285011

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

NC_012920.1(MT-ATP6):m.8839G>C

SNV
Germline

ChrMT:8839

Pathogenic

Leigh syndrome
Mitochondrial disease

No Assertion Criteria Provided

CA345921

rs_1556423547

2 SubmittersRCV000144024 RCV000495688

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

Criteria Provided
Multiple Submitters
No Conflicts

CA214806

rs_587776498

7 SubmittersRCV000144497 RCV000481050 RCV000167582

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

Criteria Provided
Multiple Submitters
No Conflicts

CA188615

rs_200397144

14 SubmittersRCV000148027 RCV000163558 RCV000464783 RCV000765834 RCV000762143 RCV001824123 RCV003474794 RCV005394505

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

SNV
Germline

Chr7:107893260

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA312448

rs_138002793

11 SubmittersRCV000281549 RCV000317845 RCV000367820 RCV000376021 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
Mitochondrial disease
Leigh syndrome
not specified

Reviewed By Expert Panel

CA250381

rs_797045055

4 SubmittersRCV000191107 RCV004791314 RCV000855132 RCV002247618

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
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome

Criteria Provided
Conflicting Classifications

CA325107

rs_144200704

5 SubmittersRCV000200525 RCV000886562 RCV001140093 RCV001140092 RCV001140853

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

SNV
Germline

Chr2:218661911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA325212

rs_148278887

8 SubmittersRCV000714568 RCV001137961 RCV000200623 RCV000949252 RCV001137963 RCV001137962

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

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

Criteria Provided
Conflicting Classifications

CA324447

rs_200686732

9 SubmittersRCV000986628 RCV001137778 RCV000901776 RCV003937736 RCV002517228

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

3 SubmittersRCV000198638 RCV001151560 RCV001151559 RCV003917799

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

SNV
Germline

Chr5:53560672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA325091

rs_185711494

3 SubmittersRCV000335188 RCV001154575 RCV000960853 RCV001154576

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

7 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

Criteria Provided
Conflicting Classifications

CA322228

rs_587669420

6 SubmittersRCV000699472 RCV001699229

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

Criteria Provided
Conflicting Classifications

CA321229

rs_200702528

5 SubmittersRCV000196814 RCV001215689 RCV002222439 RCV002517263

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

3 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.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

7 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Conflicting Classifications

CA320641

rs_200417926

3 SubmittersRCV000196215 RCV001104932 RCV001104931 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

Leigh syndrome
Condition: not provided
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 SubmittersRCV000765008 RCV000726015 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
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Dilated cardiomyopathy 1GG
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA069792

rs_367721665

10 SubmittersRCV000208222 RCV000228322 RCV000283732 RCV000342145 RCV000411374 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
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
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 RCV000308179 RCV000347454 RCV000410936 RCV000401643 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
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358579

rs_149875171

16 SubmittersRCV000210523 RCV000247565 RCV000570838 RCV001080809 RCV001157831 RCV001157832 RCV001157833 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-paraganglioma
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
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
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358571

rs_187964306

11 SubmittersRCV000216190 RCV000224380 RCV000282383 RCV000349064 RCV000374489 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-paraganglioma
not specified
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5
Condition: not provided
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358575

rs_34771391

13 SubmittersRCV000210510 RCV000287211 RCV000317795 RCV000372488 RCV000426962 RCV000570502 RCV003316165 RCV003736642 RCV005396686

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
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
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
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358583

rs_35964044

14 SubmittersRCV000210529 RCV000242588 RCV000291485 RCV000346462 RCV000376037 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-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
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA358577

rs_34779890

13 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
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358016

rs_761389904

8 SubmittersRCV000210569 RCV000679869 RCV001275555 RCV001507280 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
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
Dilated cardiomyopathy 1GG
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3172957

rs_571292356

9 SubmittersRCV000214276 RCV000230633 RCV000663181 RCV000765826 RCV004567619 RCV003477750

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

SNV
Germline

Chr5:256398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173475

rs_377632619

8 SubmittersRCV000217918 RCV000333745 RCV000275247 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
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172819

rs_201453889

4 SubmittersRCV000233726 RCV000274933 RCV000389166 RCV000332396 RCV000564203 RCV005420912

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

Criteria Provided
Conflicting Classifications

CA3172820

rs_375576259

8 SubmittersRCV000228365 RCV000287726 RCV000345164 RCV000383376 RCV000572868 RCV003477820 RCV003475076 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
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172993

rs_140243793

7 SubmittersRCV000234552 RCV000567901 RCV001153420 RCV001153422 RCV001153421 RCV003430784 RCV004541406 RCV005420919

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-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
Leigh syndrome
Condition: not provided
not specified
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173313

rs_376391115

9 SubmittersRCV000226282 RCV000565244 RCV000663186 RCV001153644 RCV001153645 RCV001153646 RCV002253311 RCV002267990 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
Mitochondrial complex II deficiency, nuclear type 1
Condition: not provided
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173479

rs_191412461

14 SubmittersRCV000227636 RCV000409751 RCV000563763 RCV001158018 RCV000998351 RCV001158017 RCV001158019 RCV004529398

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

SNV
Germline

Chr9:133352696

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584085

rs_147816470

5 SubmittersRCV000235079 RCV000578885 RCV005044488 RCV004554757

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

SNV
Germline

Chr5:233583

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-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
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma/paraganglioma syndrome 5
Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173306

rs_35502109

16 SubmittersRCV000239362 RCV000242066 RCV000569690 RCV001153642 RCV001153643 RCV001081440 RCV001153641 RCV003316319 RCV005396843

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

SNV
Germline

Chr5:224364

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3172744

rs_377470390

10 SubmittersRCV000239368 RCV000565564 RCV000764599 RCV001820793 RCV003137852 RCV003313064 RCV003475849 RCV005031828 RCV005420930

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

SNV
Germline

Chr5:256344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173461

rs_372480044

8 SubmittersRCV000239361 RCV000574591 RCV000663177 RCV000765835 RCV000836807 RCV004586651

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

SNV
Germline

Chr5:225975

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Leigh syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex II deficiency, nuclear type 1
not specified
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
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172874

rs_61733344

15 SubmittersRCV000239367 RCV000291747 RCV000339713 RCV000394814 RCV000418051 RCV000571465 RCV001800618 RCV003316320 RCV005396845

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

SNV
Germline

Chr5:233572

Conflicting classifications of pathogenicity

Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Leigh syndrome
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5
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
Mitochondrial complex I deficiency, nuclear type 16
Inborn genetic diseases
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex I deficiency
NDUFAF5-related disorder
Leigh syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA9767701

rs_150613320

13 SubmittersRCV000255420 RCV001507283 RCV001266325 RCV001824717 RCV001833296 RCV004757983 RCV004701358

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

Criteria Provided
Conflicting Classifications

CA5642274

rs_200910834

7 SubmittersRCV000006553 RCV000266470 RCV002469094

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

SNV
Germline

Chr9:133352509

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

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

3 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_004544.4(NDUFA10):c.749+11C>T

SNV
Germline

Chr2:240011606

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2200881

rs_200760509

3 SubmittersRCV000305494 RCV000360176 RCV001672578

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

Criteria Provided
Conflicting Classifications

CA2070426

rs_137889316

10 SubmittersRCV000348996 RCV000397471 RCV001728094 RCV001861145 RCV002252098 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
GRACILE syndrome
not specified
Condition: not provided
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109770

rs_112329020

5 SubmittersRCV000311482 RCV000351273 RCV000401551 RCV000426045 RCV000913045 RCV004732851

NM_004544.3(NDUFA10):c.-93G>T

SNV
Germline

Chr2:240025394

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614726

rs_577432343

2 SubmittersRCV000300216 RCV000350479 RCV002263607

NM_133259.4(LRPPRC):c.1677+7C>T

SNV
Germline

Chr2:43950566

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1638839

rs_374995996

2 SubmittersRCV000321679 RCV001443264

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

SNV
Germline

Chr5:228286

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma-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
Neurodegeneration with ataxia and late-onset optic atrophy
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Dilated cardiomyopathy 1GG
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3172951

rs_146653693

16 SubmittersRCV000275715 RCV000334152 RCV000381733 RCV000457962 RCV000562470 RCV001529253 RCV001821078 RCV005398480 RCV005420942

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-paraganglioma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10620256

rs_886060515

3 SubmittersRCV000260734 RCV000316002 RCV000355512 RCV004695857 RCV002446606

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

Criteria Provided
Conflicting Classifications

CA3172673

rs_560932680

6 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-paraganglioma
Leigh syndrome
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Hereditary cancer-predisposing syndrome
Dilated cardiomyopathy 1GG

Criteria Provided
Conflicting Classifications

CA3173301

rs_766352407

4 SubmittersRCV000287976 RCV000352061 RCV000396802 RCV000461471 RCV001012256 RCV003475935

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

SNV
Germline

Chr5:256553

Conflicting classifications of pathogenicity

Leigh syndrome
Hereditary pheochromocytoma-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

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

Criteria Provided
Conflicting Classifications

CA3278114

rs_537327206

2 SubmittersRCV000351951 RCV000399037 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

Criteria Provided
Conflicting Classifications

CA6143135

rs_184136353

2 SubmittersRCV000307097 RCV000363981 RCV002056232

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

Criteria Provided
Conflicting Classifications

CA5978099

rs_117981655

4 SubmittersRCV000284678 RCV000939941 RCV000406732 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

Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8393457

rs_139771078

7 SubmittersRCV000265637 RCV000324448 RCV003137923 RCV002061215 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

Criteria Provided
Conflicting Classifications

CA8402358

rs_371273328

3 SubmittersRCV000328617 RCV000383020 RCV001564175

NM_007103.4(NDUFV1):c.414G>T (p.Leu138=)

SNV
Germline

Chr11:67609539

Conflicting classifications of pathogenicity

Leigh syndrome
Mitochondrial complex I deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143165

rs_148461900

3 SubmittersRCV000318618 RCV000353349 RCV001310971

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

4 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
Condition: not provided
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA9043328

rs_375120743

3 SubmittersRCV000307576 RCV000891844 RCV000405173

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

Criteria Provided
Conflicting Classifications

CA8402373

rs_199668725

6 SubmittersRCV000288666 RCV000343670 RCV000829183

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

Criteria Provided
Conflicting Classifications

CA3172666

rs_751633537

15 SubmittersRCV000411889 RCV000425129 RCV000756629 RCV001151933 RCV000649475 RCV002255377 RCV001151931 RCV001151932

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

SNV
Germline

Chr5:233636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173073

rs_199844384

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

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

SNV
Germline

Chr9:133352441

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16042683

rs_781934508

6 SubmittersRCV000413105 RCV000626843 RCV005238967 RCV002283477 RCV002523941 RCV005044629

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
NDUFS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2070717

rs_148544177

4 SubmittersRCV000419653 RCV001138898 RCV001138899 RCV003950361 RCV002061445

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

6 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
Condition: not provided
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome
BCS1L-related disorder

Criteria Provided
Conflicting Classifications

CA2109755

rs_148302981

4 SubmittersRCV000438295 RCV002521706 RCV001138378 RCV001138379 RCV001138380 RCV004539845

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

SNV
Germline

Chr5:53603503

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3264190

rs_142368721

3 SubmittersRCV000906096 RCV001157095 RCV001157096

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

SNV
Germline

Chr7:107903531

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4434418

rs_138398782

4 SubmittersRCV001160216 RCV000898845 RCV001163571 RCV001703709

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

SNV
Germline

Chr5:231013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173017

rs_201461936

4 SubmittersRCV000440704 RCV000662985 RCV002256236 RCV001157730 RCV001157731 RCV001157732

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

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

Criteria Provided
Conflicting Classifications

CA6143092

rs_199963966

3 SubmittersRCV000444487 RCV001105991 RCV001105992 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
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6143466

rs_147719815

3 SubmittersRCV000426011 RCV001105040 RCV001105039 RCV003766367

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

SNV
Germline

Chr11:68033166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6146432

rs_144125742

8 SubmittersRCV000431887 RCV003912624 RCV000676967 RCV001111479 RCV001111480

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

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

Criteria Provided
Conflicting Classifications

CA9043125

rs_147710123

3 SubmittersRCV001123144 RCV001127213 RCV001698192

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

SNV
Germline

Chr5:240452

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173266

rs_746453879

6 SubmittersRCV000573305 RCV001152360 RCV001152358 RCV001152359 RCV003478054 RCV000473824 RCV005421900

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

SNV
Germline

Chr5:233595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173065

rs_201341132

6 SubmittersRCV000456689 RCV000563364 RCV001152244 RCV001152246 RCV001310840 RCV004535493 RCV005421894 RCV001152245

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

SNV
Germline

Chr5:233536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173042

rs_377509915

11 SubmittersRCV000462816 RCV000765829 RCV001821296 RCV005421813 RCV000565889 RCV002272249 RCV003476127

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

SNV
Germline

Chr5:251399

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3173340

rs_758252610

5 SubmittersRCV000561801 RCV000466412 RCV001156240 RCV001156241 RCV001156242 RCV003478052 RCV005421878

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

SNV
Germline

Chr5:218360

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3172677

rs_780064103

7 SubmittersRCV000473246 RCV001153198 RCV004568122 RCV001153199 RCV001153200 RCV000569083 RCV003225073

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

SNV
Germline

Chr6:98899281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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_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
Mitochondrial complex I deficiency, nuclear type 1
Leigh syndrome
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
Mitochondrial complex IV deficiency, nuclear type 1
Leigh syndrome
COX10-related disorder

Criteria Provided
Conflicting Classifications

CA8402598

rs_113058506

8 SubmittersRCV000514768 RCV000603785 RCV001122055 RCV001122054 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-paraganglioma
Leigh syndrome
SDHA-related disorder
Pheochromocytoma/paraganglioma syndrome 5

Criteria Provided
Conflicting Classifications

CA3173134

rs_778667374

5 SubmittersRCV000541698 RCV001010227 RCV001156143 RCV001156144 RCV001157830 RCV004735622 RCV005422058

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

SNV
Germline

Chr5:218354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3172671

rs_763680697

5 SubmittersRCV000564955 RCV001153196 RCV001151934 RCV001153197 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

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

Criteria Provided
Conflicting Classifications

CA3278200

rs_9885480

7 SubmittersRCV000585479 RCV000602804 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

Criteria Provided
Multiple Submitters
No Conflicts

CA3264179

rs_376281345

7 SubmittersRCV000007294 RCV000588112 RCV003558447 RCV005357776

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5642259

rs_149718203

9 SubmittersRCV000586150 RCV000599531 RCV002252173 RCV004757251 RCV000033254

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

SNV
Germline

Chr11:67611973

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6143414

rs_536758576

13 SubmittersRCV000592779 RCV001783094 RCV001731801 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

Criteria Provided
Conflicting Classifications

CA5978089

rs_3740654

3 SubmittersRCV000614898 RCV001103853 RCV001103854 RCV002531615

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

4 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-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
Condition: not provided
Leigh syndrome
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Conflicting Classifications

CA4434339

rs_144038427

4 SubmittersRCV000701637 RCV001561816 RCV001163783 RCV001163784

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375693425

rs_782609482

5 SubmittersRCV000735985 RCV000781906 RCV002272341 RCV001784364

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

SNV
Germline

Chr9:133352768

Pathogenic

not specified
Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA200832536

rs_782682492

4 SubmittersRCV000780770 RCV001242611 RCV001726326

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
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA2109810

rs_146731467

5 SubmittersRCV000825116 RCV000885856 RCV001140960 RCV001140961 RCV001140962

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

SNV
Germline

ChrMT:9035

Likely pathogenic

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

Reviewed By Expert Panel

CA414801955

rs_1603222000

10 SubmittersRCV000851177 RCV000854406 RCV001196557 RCV002466594 RCV002249546 RCV002260672 RCV004768714

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-CO1):m.6526T>C

SNV
Germline

ChrMT:6526

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA414784550

rs_1603220522

1 SubmittersRCV000853981

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

NC_012920.1(MT-ATP6):m.9049G>A

SNV
Germline

ChrMT:9049

Likely pathogenic

Leigh syndrome
Progressive spastic paraparesis
Cerebellar ataxia
Abnormal basal ganglia MRI signal intensity
Gonadal dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA414802017

rs_1603222011

2 SubmittersRCV000854410 RCV000993792

NC_012920.1(MT-ATP6):m.9134A>G

SNV
Germline

ChrMT:9134

Likely pathogenic

Leigh syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA414802276

rs_1603222119

2 SubmittersRCV000854453 RCV004697014

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

SNV
Germline

Chr9:133354661

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200833334

rs_141425824

3 SubmittersRCV000874503 RCV001593100

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-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

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

Criteria Provided
Conflicting Classifications

CA6143223

rs_151104852

3 SubmittersRCV001103034 RCV000898339 RCV001103033

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

SNV
Germline

Chr17:10691948

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8393553

rs_376145746

3 SubmittersRCV000906371 RCV001124445 RCV001124446 RCV004531046

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

SNV
Germline

Chr17:14076817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8402283

rs_144000161

4 SubmittersRCV001127733 RCV000899247 RCV001127734

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

6 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

4 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
Pheochromocytoma/paraganglioma syndrome 5
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Hereditary pheochromocytoma-paraganglioma
Leigh syndrome
Condition: not provided
Dilated cardiomyopathy 1GG
SDHA-related disorder

Criteria Provided
Conflicting Classifications

CA3173130

rs_372989971

6 SubmittersRCV001010145 RCV001238661 RCV001156140 RCV001156141 RCV001156142 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

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

Criteria Provided
Conflicting Classifications

CA8393733

rs_61753148

2 SubmittersRCV001124544 RCV001124543 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

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

Criteria Provided
Conflicting Classifications

CA288081256

rs_143758001

2 SubmittersRCV001124825 RCV001124826 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

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

Criteria Provided
Conflicting Classifications

CA9043133

rs_565395435

3 SubmittersRCV001123145 RCV001123146 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.354C>T (p.Tyr118=)

SNV
Germline

Chr2:240021303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2201081

rs_118106981

4 SubmittersRCV001141071 RCV001141072 RCV003928737 RCV002285448

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

Criteria Provided
Conflicting Classifications

CA68073082

rs_928084265

3 SubmittersRCV001138192 RCV001138193 RCV004032319 RCV005394759

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

SNV
Germline

Chr5:256669

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA112784663

rs_189989110

1 SubmittersRCV001153828 RCV001153829 RCV001153830

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

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

Criteria Provided
Conflicting Classifications

CA3173036

rs_774043076

3 SubmittersRCV001157734 RCV001157733 RCV001157735 RCV002256692 RCV005423854

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

SNV
Germline

Chr7:107891280

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E3 deficiency
Leigh syndrome

Criteria Provided
Conflicting Classifications

CA164237587

rs_779166996

2 SubmittersRCV001163466 RCV001163465 RCV001163467

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4814749

rs_753873681

6 SubmittersRCV001556391 RCV001249207 RCV003152754

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

Criteria Provided
Conflicting Classifications

CA6143377

rs_201992354

4 SubmittersRCV001249206 RCV001267713 RCV001879751

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

SNV
Germline

Chr20:13801528

Likely pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA9767811

rs_200756131

1 SubmittersRCV001249209

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

Condition: not provided
Leigh syndrome
Mitochondrial complex I deficiency, nuclear type 16
NDUFAF5-related disorder

Criteria Provided
Conflicting Classifications

CA9767782

rs_749288299

4 SubmittersRCV001773584 RCV001279569 RCV003469500 RCV004758155

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

SNV
Germline

Chr20:13801583

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9767826

rs_141758325

5 SubmittersRCV001279573 RCV002537856 RCV002480914 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_003172.4(SURF1):c.491C>T (p.Thr164Ile)

SNV
Germline

Chr9:133353773

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

NC_012920.1(MT-ND1):m.3685T>C

SNV
Germline

ChrMT:3685

Likely pathogenic

Leigh syndrome

No Assertion Criteria Provided

CA414773304

rs_1603219079

1 SubmittersRCV001797044

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

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

Leigh syndrome
Mitochondrial complex IV deficiency, nuclear type 1

Criteria Provided
Conflicting Classifications

CA375693698

rs_782437393

2 SubmittersRCV001986990 RCV003107937

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

Criteria Provided
Single Submitter

CA375694063

rs_1444801979

1 SubmittersRCV002027283

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/somatic

Chr5:53646406

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA359719915

rs_1260453815

4 SubmittersRCV002261480 RCV002307852 RCV003464420

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

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

Criteria Provided
Single Submitter

CA200832313

rs_782405164

1 SubmittersRCV002979667

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

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
Single Submitter

CA2695211584

rs_2490614044

1 SubmittersRCV003511462

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

SNV
Germline

Chr9:133352557

Pathogenic

Leigh syndrome

Criteria Provided
Single Submitter

CA375693835

rs_2119081117

1 SubmittersRCV003511463

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

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