ClinVar for MedGen (Select 374101) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18102991.	NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val) GRCh37: Chr2:37475384 GRCh38: Chr2:37248241	NDUFAF7	A308V, A335V, A406V	Mitochondrial complex I deficiency	not provided	no assertion provided
Select item 17224252.	NM_014049.5(ACAD9):c.634-1G>A GRCh37: Chr3:128618129 GRCh38: Chr3:128899286	ACAD9		Mitochondrial complex I deficiency	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 14796933.	NM_014049.5(ACAD9):c.1674_1692+34del GRCh37: Chr3:128628970-128629022 GRCh38: Chr3:128910127-128910179	ACAD9, CFAP92		Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, not provided	Likely pathogenic (Dec 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14146804.	NM_014049.5(ACAD9):c.1029+1dup GRCh37: Chr3:128622974-128622975 GRCh38: Chr3:128904131-128904132	ACAD9		Mitochondrial complex I deficiency, not provided	Pathogenic/Likely pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11079365.	NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) GRCh37: Chr20:13782284 GRCh38: Chr20:13801638	NDUFAF5		not provided	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 9903836.	NM_004553.6(NDUFS6):c.353A>G (p.Gln118Arg) GRCh37: Chr5:1816008 GRCh38: Chr5:1815894	NDUFS6	Q118R	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 9903827.	NM_004553.6(NDUFS6):c.306C>T (p.Asn102=) GRCh37: Chr5:1814572 GRCh38: Chr5:1814458	NDUFS6		Mitochondrial complex I deficiency	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 9729208.	NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) GRCh37: Chr11:67379040 GRCh38: Chr11:67611569	NDUFV1		not provided, Mitochondrial complex I deficiency, Leigh syndrome	Conflicting interpretations of pathogenicity (Aug 7, 2022)	criteria provided, conflicting interpretations
Select item 8730189.	NM_004548.3(NDUFB10):c.131-442G>C GRCh37: Chr16:2010712 GRCh38: Chr16:1960711	NDUFB10		Mitochondrial complex I deficiency	Likely pathogenic (Apr 25, 2020)	criteria provided, single submitter
Select item 87007410.	NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) GRCh37: Chr17:12899991 GRCh38: Chr17:12996674	ELAC2	S511Y, S510Y, S471Y	Combined oxidative phosphorylation defect type 17, Primary dilated cardiomyopathy, Mitochondrial complex I deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87007311.	NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) GRCh37: Chr17:12899956 GRCh38: Chr17:12996639	ELAC2	Q483, Q522, Q523*	Primary dilated cardiomyopathy, Mitochondrial complex I deficiency, Combined oxidative phosphorylation defect type 17	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 84853912.	NM_014049.5(ACAD9):c.151-1_151del GRCh37: Chr3:128603494-128603495 GRCh38: Chr3:128884651-128884652	ACAD9		Mitochondrial complex I deficiency, not provided	Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79454213.	NM_004553.6(NDUFS6):c.336C>T (p.Cys112=) GRCh37: Chr5:1815991 GRCh38: Chr5:1815877	NDUFS6		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 77066814.	NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] GRCh37: Chr20:13765944-13765945 GRCh38: Chr20:13785298-13785299	NDUFAF5		Mitochondrial complex 1 deficiency, nuclear type 16, not provided	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76669615.	NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) GRCh37: Chr20:13775520 GRCh38: Chr20:13794874	NDUFAF5	V138I	not provided	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 76537016.	NM_004553.6(NDUFS6):c.165G>T (p.Arg55=) GRCh37: Chr5:1802467 GRCh38: Chr5:1802353	NDUFS6		not provided	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 76409817.	NM_024120.5(NDUFAF5):c.263+8G>A GRCh37: Chr20:13768006 GRCh38: Chr20:13787360	NDUFAF5		not provided	Benign (Sep 28, 2022)	criteria provided, single submitter
Select item 75623118.	NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) GRCh37: Chr20:13797838 GRCh38: Chr20:13817192	NDUFAF5		not provided	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 75542719.	NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) GRCh37: Chr20:13789520 GRCh38: Chr20:13808874	NDUFAF5		not provided	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 75542620.	NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) GRCh37: Chr20:13765903 GRCh38: Chr20:13785257	NDUFAF5		not provided	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 75367021.	NM_004553.6(NDUFS6):c.102G>A (p.Pro34=) GRCh37: Chr5:1801633 GRCh38: Chr5:1801519	NDUFS6		not provided	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 74959022.	NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) GRCh37: Chr20:13765844 GRCh38: Chr20:13785198	NDUFAF5		not provided	Likely benign (Nov 3, 2020)	criteria provided, single submitter
Select item 73389923.	NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) GRCh37: Chr20:13797847 GRCh38: Chr20:13817201	NDUFAF5		Mitochondrial complex 1 deficiency, nuclear type 16, not provided	Benign/Likely benign (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72874124.	NM_004553.6(NDUFS6):c.67C>T (p.Leu23=) GRCh37: Chr5:1801598 GRCh38: Chr5:1801484	NDUFS6		not provided	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 72855625.	NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) GRCh37: Chr20:13765723 GRCh38: Chr20:13785077	NDUFAF5		not provided	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 72721326.	NM_004553.6(NDUFS6):c.9G>A (p.Ala3=) GRCh37: Chr5:1801540 GRCh38: Chr5:1801426	MRPL36, NDUFS6		not provided	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 72687327.	NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) GRCh37: Chr5:1801562 GRCh38: Chr5:1801448	NDUFS6	L11V	not provided, Mitochondrial complex I deficiency, nuclear type 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 72251328.	NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) GRCh37: Chr20:13789522 GRCh38: Chr20:13808876	NDUFAF5	M251T, M223T, M64T, M94T	not provided, Inborn genetic diseases	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71843529.	NM_004553.6(NDUFS6):c.117C>G (p.Val39=) GRCh37: Chr5:1801648 GRCh38: Chr5:1801534	NDUFS6		not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 69202330.	NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln) GRCh37: Chr11:67376979 GRCh38: Chr11:67609508	NDUFV1	R119Q, R128Q	Mitochondrial complex I deficiency	Likely pathogenic (Apr 18, 2018)	criteria provided, single submitter
Select item 63450131.	NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) GRCh37: Chr15:41679725 GRCh38: Chr15:41387527	NDUFAF1	I301F	Mitochondrial complex I deficiency, not provided	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63208532.	NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs) GRCh37: Chr1:161179083-161179084 GRCh38: Chr1:161209293-161209294	NDUFS2	R166fs	Mitochondrial complex I deficiency	Uncertain significance (Aug 17, 2018)	criteria provided, single submitter
Select item 61824233.	NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) GRCh37: Chr20:13765739 GRCh38: Chr20:13785093	NDUFAF5	R9G	not provided	Uncertain significance (May 11, 2018)	criteria provided, single submitter
Select item 58757734.	NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) GRCh37: Chr5:52954385 GRCh38: Chr5:53658555	NDUFS4	D119H	Mitochondrial complex I deficiency, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Conflicting interpretations of pathogenicity (Aug 7, 2018)	criteria provided, conflicting interpretations
Select item 58502835.	NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser) GRCh37: Chr11:67377087 GRCh38: Chr11:67609616	NDUFV1	N164S, N155S	Mitochondrial complex I deficiency	not provided	no assertion provided
Select item 56220436.	NM_025152.3(NUBPL):c.349A>G (p.Met117Val) GRCh37: Chr14:32068552 GRCh38: Chr14:31599346	NUBPL	M117V, M21V	Mitochondrial complex I deficiency	Uncertain significance (May 22, 2018)	criteria provided, single submitter
Select item 56106337.	NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr) GRCh37: Chr2:206988964 GRCh38: Chr2:206124240	NDUFS1	C710Y, C599Y, C653Y, C674Y, C724Y	not provided, Mitochondrial complex I deficiency	Uncertain significance (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56106238.	NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly) GRCh37: Chr2:207006678 GRCh38: Chr2:206141954	NDUFS1	R417G, R381G, R306G, R360G, R431G	Mitochondrial complex I deficiency	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter
Select item 56012339.	Single allele GRCh37: Chr14:31481456-32662912 GRCh38: Chr14:31012250-32193706	AP4S1, ARHGAP5, ARHGAP5-AS1, DTD2, GPR33, HEATR5A, HEATR5A-DT, HECTD1, LINC02313, LOC112267854, LOC121838588, LOC124995355, LOC124995356, LOC124995359, LOC126861911, LOC126861912, LOC126861913, LOC126861914, MIR624, NUBPL, NUBPL-DT, STRN3		Mitochondrial complex I deficiency	Uncertain significance (Mar 28, 2018)	criteria provided, single submitter
Select item 55916640.	NM_024120.5(NDUFAF5):c.222+8C>G GRCh37: Chr20:13765944 GRCh38: Chr20:13785298	NDUFAF5		Mitochondrial complex 1 deficiency, nuclear type 16, not provided	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55769141.	NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly) GRCh37: Chr5:52979034-52979035 GRCh38: Chr5:53683204-53683205	NDUFS4		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Apr 12, 2018)	criteria provided, single submitter
Select item 54859342.	NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) GRCh37: Chr11:126144853 GRCh38: Chr11:126274958	FOXRED1	P190S	Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 54856743.	NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) GRCh37: Chr11:67378496 GRCh38: Chr11:67611025	NDUFV1	N244I, N235I	Mitochondrial complex I deficiency	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 52300644.	NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) GRCh37: Chr11:47603989 GRCh38: Chr11:47582437	NDUFS3	R199Q	Mitochondrial complex I deficiency, not provided	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52271845.	NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) GRCh37: Chr11:126145222 GRCh38: Chr11:126275327	FOXRED1	G211A	Mitochondrial complex I deficiency, Mitochondrial complex 1 deficiency, nuclear type 19, not provided	Conflicting interpretations of pathogenicity (Aug 18, 2022)	criteria provided, conflicting interpretations
Select item 52263846.	NM_014049.5(ACAD9):c.959-3C>G GRCh37: Chr3:128622902 GRCh38: Chr3:128904059	ACAD9		Mitochondrial complex I deficiency	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 49691847.	NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) GRCh37: Chr11:67379444 GRCh38: Chr11:67611973	NDUFV1, LOC126861242	R386H, R377H	not provided, Mitochondrial complex I deficiency, Leigh syndrome, Mitochondrial complex 1 deficiency, nuclear type 4	Conflicting interpretations of pathogenicity (Dec 22, 2022)	criteria provided, conflicting interpretations
Select item 44617648.	NM_001270888.1(SLC25A10):c.[684C>T;790-37G>A] GRCh37: Chr17:79684843 Chr17:79686969 GRCh38: Chr17:81717813 Chr17:81719939	SLC25A10, SLC25A10	P192S	Mitochondrial complex I deficiency	Likely pathogenic	criteria provided, single submitter
Select item 44617549.	NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) GRCh37: Chr17:79682598 GRCh38: Chr17:81715568	SLC25A10	K102*	Mitochondrial complex I deficiency, Mitochondrial DNA depletion syndrome 19	Likely pathogenic (Apr 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43145250.	NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) GRCh37: Chr11:67379405 GRCh38: Chr11:67611934	LOC126861242, NDUFV1	F373S, F364S	Mitochondrial complex 1 deficiency, nuclear type 4	Likely pathogenic	criteria provided, single submitter
Select item 42476151.	NM_014049.4(ACAD9):c.[1846C>T];[359delT]			Acyl-CoA dehydrogenase 9 deficiency	Likely pathogenic (Oct 15, 2013)	criteria provided, single submitter
Select item 42475052.	NM_014049.4(ACAD9):c.[1552C>T];[1564-6_1569del]			Acyl-CoA dehydrogenase 9 deficiency	Pathogenic (Aug 29, 2015)	no assertion criteria provided
Select item 42474953.	NM_014049.4(ACAD9):c.[1237G>A];[1552C>T]			Acyl-CoA dehydrogenase 9 deficiency	Pathogenic (Aug 28, 2015)	no assertion criteria provided
Select item 42474654.	NM_014049.4(ACAD9):c.[1594C>T];[359delT]			Acyl-CoA dehydrogenase 9 deficiency	Pathogenic (Aug 25, 2015)	no assertion criteria provided
Select item 41838155.	NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) GRCh37: Chr11:47602529 GRCh38: Chr11:47580977	NDUFS3	R125H	Mitochondrial complex I deficiency, not provided, Mitochondrial complex 1 deficiency, nuclear type 8	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 41787756.	NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) GRCh37: Chr2:207008821 GRCh38: Chr2:206144097	NDUFS1	T303S, T192S, T246S, T267S, T317S	not provided, Mitochondrial complex 1 deficiency, nuclear type 5	Uncertain significance (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 38318657.	NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His) GRCh37: Chr20:13767980 GRCh38: Chr20:13787334	NDUFAF5	R82H	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38278958.	NM_004553.6(NDUFS6):c.96C>A (p.Val32=) GRCh37: Chr5:1801627 GRCh38: Chr5:1801513	NDUFS6		not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37759759.	NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) GRCh37: Chr20:13775557 GRCh38: Chr20:13794911	NDUFAF5	N150S	Mitochondrial complex 1 deficiency, nuclear type 16, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37274560.	NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) GRCh37: Chr11:126142963 GRCh38: Chr11:126273068	FOXRED1	R136W	Mitochondrial complex I deficiency, Mitochondrial complex 1 deficiency, nuclear type 19, not provided	Pathogenic/Likely pathogenic (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37271561.	NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) GRCh37: Chr11:67376033 GRCh38: Chr11:67608562	NDUFV1	S56P, S47P	not provided, Mitochondrial complex I deficiency, Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex 1 deficiency, nuclear type 4	Conflicting interpretations of pathogenicity (Mar 26, 2022)	criteria provided, conflicting interpretations
Select item 37225362.	NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) GRCh37: Chr20:13789519 GRCh38: Chr20:13808873	NDUFAF5	G250V, G222V, G93V, G63V	Mitochondrial complex 1 deficiency, nuclear type 16, not provided	Pathogenic/Likely pathogenic (Mar 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36925363.	NM_021074.4(NDUFV2):c.*77C>G GRCh37: Chr18:9134354 GRCh38: Chr18:9134356	NDUFV2, NDUFV2-AS1		Mitochondrial complex I deficiency, not provided	Benign/Likely benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35827664.	NM_014165.4(NDUFAF4):c.-32del GRCh37: Chr6:97345709 GRCh38: Chr6:96897833	NDUFAF4		Mitochondrial complex I deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35827265.	NM_014165.4(NDUFAF4):c.241-18dup GRCh37: Chr6:97339275-97339276 GRCh38: Chr6:96891399-96891400	NDUFAF4		not provided, Mitochondrial complex 1 deficiency, nuclear type 15, Mitochondrial complex I deficiency	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35825766.	NM_014165.4(NDUFAF4):c.*1053A>G GRCh37: Chr6:97337927 GRCh38: Chr6:96890051	NDUFAF4		Mitochondrial complex I deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35403267.	NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) GRCh37: Chr5:60241100 GRCh38: Chr5:60945273	ERCC8, NDUFAF2	D6E	Leigh syndrome, Cockayne syndrome type 1, Mitochondrial complex I deficiency	Uncertain significance (Aug 1, 2017)	criteria provided, multiple submitters, no conflicts
Select item 35403168.	NM_174889.5(NDUFAF2):c.-23GC[3] GRCh37: Chr5:60241059-60241060 GRCh38: Chr5:60945232-60945233	NDUFAF2		Leigh syndrome, Mitochondrial complex I deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35403069.	NM_174889.4(NDUFAF2):c.-63G>T GRCh37: Chr5:60241020 GRCh38: Chr5:60945193	NDUFAF2		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35402970.	NM_174889.4(NDUFAF2):c.-66G>C GRCh37: Chr5:60241017 GRCh38: Chr5:60945190	NDUFAF2		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35402871.	NM_174889.4(NDUFAF2):c.-91C>T GRCh37: Chr5:60240992 GRCh38: Chr5:60945165	ERCC8, NDUFAF2		not provided, Cockayne syndrome, Mitochondrial complex I deficiency, Leigh syndrome	Benign/Likely benign (Jul 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35402772.	NM_174889.4(NDUFAF2):c.-97A>G GRCh37: Chr5:60240986 GRCh38: Chr5:60945159	ERCC8, NDUFAF2		Leigh syndrome, Mitochondrial complex I deficiency, Cockayne syndrome, not provided	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35402673.	NM_174889.4(NDUFAF2):c.-110A>C GRCh37: Chr5:60240973 GRCh38: Chr5:60945146	NDUFAF2		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35389174.	NM_002495.4(NDUFS4):c.424+19dup GRCh37: Chr5:52954468-52954469 GRCh38: Chr5:53658638-53658639	NDUFS4		Mitochondrial complex I deficiency, not specified, Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1, not provided	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35389075.	NM_002495.4(NDUFS4):c.351-11_351-8del GRCh37: Chr5:52954367-52954370 GRCh38: Chr5:53658537-53658540	NDUFS4		Leigh syndrome, Mitochondrial complex I deficiency, not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 35319276.	NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) GRCh37: Chr5:1814464 GRCh38: Chr5:1814350	NDUFS6		Mitochondrial complex I deficiency, nuclear type 1, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 34596177.	NM_199069.1(NDUFAF3):c.-118G>A GRCh37: Chr3:49059460 GRCh38: Chr3:49022027	NDUFAF3		Mitochondrial complex I deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33520778.	NM_004544.3(NDUFA10):c.-93G>T GRCh37: Chr2:240964811 GRCh38: Chr2:240025394	NDUFA10		Mitochondrial complex I deficiency, not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (May 1, 2022)	criteria provided, conflicting interpretations
Select item 33520679.	NM_004544.3(NDUFA10):c.-92C>T GRCh37: Chr2:240964810 GRCh38: Chr2:240025393	NDUFA10		Leigh syndrome, Mitochondrial complex I deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33520580.	NM_004544.3(NDUFA10):c.-87A>C GRCh37: Chr2:240964805 GRCh38: Chr2:240025388	NDUFA10		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33520181.	NM_004544.4(NDUFA10):c.749+11C>T GRCh37: Chr2:240951023 GRCh38: Chr2:240011606	NDUFA10		Mitochondrial complex I deficiency, not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 33519682.	NM_004544.4(NDUFA10):c.*389C>T GRCh37: Chr2:240900146 GRCh38: Chr2:239960729	NDUFA10		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33517783.	NM_004544.4(NDUFA10):c.1894_1914delinsGGG GRCh37: Chr2:240898621-240898641 GRCh38: Chr2:239959204-239959224	NDUFA10		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33517584.	NM_004544.4(NDUFA10):c.1923_1924insA GRCh37: Chr2:240898611-240898612 GRCh38: Chr2:239959194-239959195	NDUFA10		not provided, Mitochondrial complex I deficiency, Leigh syndrome	Benign/Likely benign (May 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33516785.	NM_004544.4(NDUFA10):c.*2397A>G GRCh37: Chr2:240898138 GRCh38: Chr2:239958721	NDUFA10		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33378986.	NM_005006.7(NDUFS1):c.154-10_154-9del GRCh37: Chr2:207014658-207014659 GRCh38: Chr2:206149934-206149935	NDUFS1		not provided, Mitochondrial complex I deficiency, Leigh syndrome	Conflicting interpretations of pathogenicity (Aug 9, 2019)	criteria provided, conflicting interpretations
Select item 33378887.	NM_005006.7(NDUFS1):c.262-15del GRCh37: Chr2:207013835 GRCh38: Chr2:206149111	NDUFS1		Mitochondrial complex I deficiency, not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 33378788.	NM_005006.7(NDUFS1):c.262-15dup GRCh37: Chr2:207013834-207013835 GRCh38: Chr2:206149110-206149111	NDUFS1		Mitochondrial complex I deficiency, Leigh syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 33378289.	NM_005006.7(NDUFS1):c.1393-7del GRCh37: Chr2:206997836 GRCh38: Chr2:206133112	NDUFS1		Mitochondrial complex I deficiency, Leigh syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 15, 2022)	criteria provided, conflicting interpretations
Select item 33377890.	NM_005006.7(NDUFS1):c.*93dup GRCh37: Chr2:206988815-206988816 GRCh38: Chr2:206124091-206124092	NDUFS1		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33376591.	NM_005006.7(NDUFS1):c.*846del GRCh37: Chr2:206988063 GRCh38: Chr2:206123339	NDUFS1		Mitochondrial complex I deficiency, Leigh syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33376492.	NM_005006.7(NDUFS1):c.*846dup GRCh37: Chr2:206988062-206988063 GRCh38: Chr2:206123338-206123339	NDUFS1		Mitochondrial complex I deficiency, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33024293.	NM_175614.4(NDUFA11):c.-205_-204CT[2] GRCh37: Chr19:5903919-5903920 GRCh38: Chr19:5903908-5903909	LOC112552175, NDUFA11		Mitochondrial complex I deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33023394.	NM_001193375.3(NDUFA11):c.314-1391GT[4] GRCh37: Chr19:5894683-5894684 GRCh38: Chr19:5894672-5894673	NDUFA11		Mitochondrial complex I deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32834695.	NM_000156.6(GAMT):c.*146A>C GRCh37: Chr19:1397212 GRCh38: Chr19:1397213	GAMT, NDUFS7		Deficiency of guanidinoacetate methyltransferase, not provided, Leigh syndrome, Mitochondrial complex I deficiency	Benign/Likely benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32834596.	NM_000156.6(GAMT):c.*151T>C GRCh37: Chr19:1397207 GRCh38: Chr19:1397208	GAMT, NDUFS7		Deficiency of guanidinoacetate methyltransferase, not provided, Leigh syndrome, Mitochondrial complex I deficiency	Benign/Likely benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32834497.	NM_000156.6(GAMT):c.*276C>T GRCh37: Chr19:1397082 GRCh38: Chr19:1397083	GAMT, NDUFS7		Deficiency of guanidinoacetate methyltransferase, not provided, Leigh syndrome, Mitochondrial complex I deficiency	Benign/Likely benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32834398.	NM_000156.6(GAMT):c.*311C>G GRCh37: Chr19:1397047 GRCh38: Chr19:1397048	GAMT, NDUFS7		Leigh syndrome, Mitochondrial complex I deficiency, Deficiency of guanidinoacetate methyltransferase, not provided	Benign/Likely benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32834199.	NM_024407.5(NDUFS7):c.*3CCG[4] GRCh37: Chr19:1395488-1395493 GRCh38: Chr19:1395489-1395494	NDUFS7		Mitochondrial complex I deficiency, not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Apr 14, 2017)	criteria provided, conflicting interpretations
Select item 328340100.	NM_024407.5(NDUFS7):c.*3CCG[5] GRCh37: Chr19:1395488-1395490 GRCh38: Chr19:1395489-1395491	NDUFS7		Mitochondrial complex I deficiency, not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (May 1, 2018)	criteria provided, conflicting interpretations

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