ClinVar for MedGen (Select 940569) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022911.	NM_002495.4(NDUFS4):c.351-1G>C GRCh37: Chr5:52954380 GRCh38: Chr5:53658550	NDUFS4		Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic	criteria provided, single submitter
Select item 25007692.	NM_002495.4(NDUFS4):c.350+1G>T GRCh37: Chr5:52942236 GRCh38: Chr5:53646406	NDUFS4		Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic (Jul 22, 2020)	criteria provided, single submitter
Select item 24980783.	NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs) GRCh37: Chr3:119217770-119217771 GRCh38: Chr3:119498923-119498924	TIMMDC1	K64fs	Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 24421744.	NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile) GRCh37: Chr5:52856495 GRCh38: Chr5:53560665	NDUFS4	M1I	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 13328245.	NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly) GRCh37: Chr11:67376976 GRCh38: Chr11:67609505	NDUFV1	D118G, D127G	Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic	criteria provided, single submitter
Select item 10343496.	NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met) GRCh37: Chr11:67379626 GRCh38: Chr11:67612155	LOC126861242, NDUFV1	V400M, V391M	Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10338317.	NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu) GRCh37: Chr3:119242490 GRCh38: Chr3:119523643	TIMMDC1	K249E	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 25, 2018)	criteria provided, single submitter
Select item 10338308.	NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln) GRCh37: Chr3:119236129 GRCh38: Chr3:119517282	TIMMDC1	R225Q	Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10338299.	NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp) GRCh37: Chr3:119217755 GRCh38: Chr3:119498908	TIMMDC1	R59W	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Apr 17, 2018)	criteria provided, single submitter
Select item 103361710.	NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu) GRCh37: Chr20:13765890 GRCh38: Chr20:13785244	NDUFAF5	A59E	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Oct 24, 2018)	criteria provided, single submitter
Select item 103348711.	NM_018480.7(TMEM126B):c.589A>G (p.Met197Val) GRCh37: Chr11:85347169 GRCh38: Chr11:85636125	TMEM126B	M151V, M197V, M177V, M122V, M167V	Mitochondrial complex I deficiency, nuclear type 1, not provided, Inborn genetic diseases	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103296312.	NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys) GRCh37: Chr2:207009662 GRCh38: Chr2:206144938	NDUFS1	R219C, R290C, R165C, R240C, R276C	Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases	Uncertain significance (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103296213.	NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del) GRCh37: Chr2:207006727-207006729 GRCh38: Chr2:206142003-206142005	NDUFS1	V343del, V400del, V289del, V364del, V414del	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Mar 20, 2018)	criteria provided, single submitter
Select item 103290814.	NM_001377299.1(NDUFS2):c.628-17del GRCh37: Chr1:161179628 GRCh38: Chr1:161209838	NDUFS2		Mitochondrial complex I deficiency, nuclear type 1, not provided	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 103280515.	NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) GRCh37: Chr11:85345244-85345245 GRCh38: Chr11:85634200-85634201	TMEM126B	Y107fs, Y77fs, Y87fs, Y61fs	not provided, Mitochondrial complex 1 deficiency, nuclear type 29, Mitochondrial complex I deficiency, nuclear type 1	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103180316.	NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser) GRCh37: Chr6:97339240 GRCh38: Chr6:96891364	NDUFAF4	P90S	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Sep 21, 2018)	criteria provided, single submitter
Select item 103170117.	NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys) GRCh37: Chr11:67378636 GRCh38: Chr11:67611165	NDUFV1	E291K, E282K	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter
Select item 103170018.	NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala) GRCh37: Chr11:67377095 GRCh38: Chr11:67609624	NDUFV1	S167A, S158A	not provided, Mitochondrial complex 1 deficiency, nuclear type 4, Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Dec 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103169919.	NM_007103.4(NDUFV1):c.343G>A (p.Val115Met) GRCh37: Chr11:67376939 GRCh38: Chr11:67609468	NDUFV1	V106M, V115M	Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103169820.	NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp) GRCh37: Chr11:67379861 GRCh38: Chr11:67612390	LOC126861242, NDUFV1	R443W, R434W	Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103087221.	NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val) GRCh37: Chr2:207012330 GRCh38: Chr2:206147606	NDUFS1	A173V, A123V, A48V, A159V, A102V	Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103087122.	NM_005006.7(NDUFS1):c.280A>G (p.Met94Val) GRCh37: Chr2:207013802 GRCh38: Chr2:206149078	NDUFS1	M37V, M108V, M58V, M94V	Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103087023.	NM_005006.7(NDUFS1):c.2092+9T>C GRCh37: Chr2:206991254 GRCh38: Chr2:206126530	NDUFS1		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 16, 2019)	criteria provided, single submitter
Select item 103086924.	NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser) GRCh37: Chr2:206994896 GRCh38: Chr2:206130172	NDUFS1	P506S, P542S, P556S, P431S, P485S	Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103056925.	NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr) GRCh37: Chr3:119232548 GRCh38: Chr3:119513701	TIMMDC1	I193T	Mitochondrial complex I deficiency, nuclear type 1, not provided, Inborn genetic diseases	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103019126.	NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr) GRCh37: Chr11:67376033 GRCh38: Chr11:67608562	NDUFV1	S47T, S56T	Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102929127.	NM_175614.5(NDUFA11):c.205G>A (p.Val69Met) GRCh37: Chr19:5896572 GRCh38: Chr19:5896561	NDUFA11	V69M	Mitochondrial complex I deficiency, nuclear type 1, not provided	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102871328.	NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu) GRCh37: Chr18:9102770 GRCh38: Chr18:9102772	NDUFV2	R10L	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Feb 14, 2019)	criteria provided, single submitter
Select item 102829429.	NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys) GRCh37: Chr20:13765849 GRCh38: Chr20:13785203	NDUFAF5	N45K	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Apr 6, 2019)	criteria provided, single submitter
Select item 102802330.	NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) GRCh37: Chr5:52979029 GRCh38: Chr5:53683199	NDUFS4	R169T	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Feb 6, 2020)	criteria provided, single submitter
Select item 99690931.	NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) GRCh37: Chr11:67379641 GRCh38: Chr11:67612170	NDUFV1, LOC126861242	R396W, R405W	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex 1 deficiency, nuclear type 4, not provided	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98105832.	NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs) GRCh37: Chr5:52978996-52978997 GRCh38: Chr5:53683166-53683167	NDUFS4	Y160fs	Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic	no assertion criteria provided
Select item 93017733.	NM_002495.4(NDUFS4):c.350+5G>A GRCh37: Chr5:52942240 GRCh38: Chr5:53646410	NDUFS4		Mitochondrial complex I deficiency, nuclear type 1, Lactic acidosis, Developmental regression, Infantile encephalopathy	Pathogenic (Jun 9, 2020)	criteria provided, single submitter
Select item 91191134.	NM_014165.4(NDUFAF4):c.-11G>T GRCh37: Chr6:97345688 GRCh38: Chr6:96897812	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 91191035.	NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) GRCh37: Chr6:97345618 GRCh38: Chr6:96897742	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91190936.	NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) GRCh37: Chr6:97344671 GRCh38: Chr6:96896795	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91184737.	NM_014165.4(NDUFAF4):c.*1213C>T GRCh37: Chr6:97337767 GRCh38: Chr6:96889891	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91184638.	NM_014165.4(NDUFAF4):c.*1214G>A GRCh37: Chr6:97337766 GRCh38: Chr6:96889890	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91067839.	NM_014165.4(NDUFAF4):c.*14A>C GRCh37: Chr6:97338966 GRCh38: Chr6:96891090	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91067740.	NM_014165.4(NDUFAF4):c.*119T>C GRCh37: Chr6:97338861 GRCh38: Chr6:96890985	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91062841.	NM_014165.4(NDUFAF4):c.*1247A>G GRCh37: Chr6:97337733 GRCh38: Chr6:96889857	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91062742.	NM_014165.4(NDUFAF4):c.*1299G>A GRCh37: Chr6:97337681 GRCh38: Chr6:96889805	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91062643.	NM_014165.4(NDUFAF4):c.*1334G>A GRCh37: Chr6:97337646 GRCh38: Chr6:96889770	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91062544.	NM_014165.4(NDUFAF4):c.*1368A>G GRCh37: Chr6:97337612 GRCh38: Chr6:96889736	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90977045.	NM_014165.4(NDUFAF4):c.*289C>T GRCh37: Chr6:97338691 GRCh38: Chr6:96890815	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90976946.	NM_014165.4(NDUFAF4):c.*305C>A GRCh37: Chr6:97338675 GRCh38: Chr6:96890799	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90970147.	NM_014165.4(NDUFAF4):c.*1728G>A GRCh37: Chr6:97337252 GRCh38: Chr6:96889376	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90897048.	NM_014165.4(NDUFAF4):c.-65C>G GRCh37: Chr6:97345742 GRCh38: Chr6:96897866	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90896949.	NM_014165.4(NDUFAF4):c.-20G>T GRCh37: Chr6:97345697 GRCh38: Chr6:96897821	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90890250.	NM_014165.4(NDUFAF4):c.*482A>G GRCh37: Chr6:97338498 GRCh38: Chr6:96890622	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90890151.	NM_014165.4(NDUFAF4):c.*639A>C GRCh37: Chr6:97338341 GRCh38: Chr6:96890465	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90890052.	NM_014165.4(NDUFAF4):c.*782T>C GRCh37: Chr6:97338198 GRCh38: Chr6:96890322	NDUFAF4		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90781353.	NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) GRCh37: Chr5:60368960 GRCh38: Chr5:61073133	NDUFAF2	I46V	Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90733354.	NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) GRCh37: Chr5:52899290 GRCh38: Chr5:53603460	NDUFS4	R36K	Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome	Uncertain significance (May 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90724655.	NM_002488.4(NDUFA2):c.-114T>A GRCh37: Chr5:140027282 GRCh38: Chr5:140647697	NDUFA2, TMCO6		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90681956.	NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) GRCh37: Chr5:60241182 GRCh38: Chr5:60945355	NDUFAF2	Y34H	Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90650057.	NM_004553.6(NDUFS6):c.*99G>C GRCh37: Chr5:1816129 GRCh38: Chr5:1816015	NDUFS6		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90649958.	NM_004553.6(NDUFS6):c.*46C>T GRCh37: Chr5:1816076 GRCh38: Chr5:1815962	NDUFS6		not provided, Mitochondrial complex I deficiency, nuclear type 1	Conflicting interpretations of pathogenicity (Nov 29, 2019)	criteria provided, conflicting interpretations
Select item 90632759.	NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) GRCh37: Chr5:52856569 GRCh38: Chr5:53560739	NDUFS4	S26F	not provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90625260.	NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) GRCh37: Chr5:140027143 GRCh38: Chr5:140647558	NDUFA2, TMCO6	G9V	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90587661.	NM_002495.4(NDUFS4):c.*88T>A GRCh37: Chr5:52979139 GRCh38: Chr5:53683309	NDUFS4		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90581962.	NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) GRCh37: Chr5:52856501 GRCh38: Chr5:53560671	NDUFS4		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90581863.	NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) GRCh37: Chr5:52856497 GRCh38: Chr5:53560667	NDUFS4	A2E	Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90450064.	NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) GRCh37: Chr5:60448695 GRCh38: Chr5:61152868	NDUFAF2		Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Dec 15, 2020)	criteria provided, conflicting interpretations
Select item 90412365.	NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) GRCh37: Chr5:1801542 GRCh38: Chr5:1801428	MRPL36, NDUFS6	A4V	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90399866.	NM_002495.4(NDUFS4):c.350+6T>C GRCh37: Chr5:52942241 GRCh38: Chr5:53646411	NDUFS4		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90265767.	NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) GRCh37: Chr3:49059892 GRCh38: Chr3:49022459	NDUFAF3	N64T, N7T	not provided, Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90265668.	NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile) GRCh37: Chr3:49059603 GRCh38: Chr3:49022170	NDUFAF3	S9I	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90265569.	NM_199069.1(NDUFAF3):c.-143A>T GRCh37: Chr3:49059435 GRCh38: Chr3:49022002	NDUFAF3		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90175270.	NM_199069.1(NDUFAF3):c.-503G>C GRCh37: Chr3:49059075 GRCh38: Chr3:49021642	NDUFAF3		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90175171.	NM_199069.1(NDUFAF3):c.-503G>A GRCh37: Chr3:49059075 GRCh38: Chr3:49021642	NDUFAF3		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 90127472.	NM_199069.2(NDUFAF3):c.*243G>A GRCh37: Chr3:49060848 GRCh38: Chr3:49023415	NDUFAF3		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90127373.	NM_199069.2(NDUFAF3):c.*98A>G GRCh37: Chr3:49060703 GRCh38: Chr3:49023270	NDUFAF3		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90127274.	NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) GRCh37: Chr3:49060586 GRCh38: Chr3:49023153	NDUFAF3	L122S, L179S	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Apr 6, 2018)	criteria provided, single submitter
Select item 90011075.	NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) GRCh37: Chr3:49059959 GRCh38: Chr3:49022526	NDUFAF3		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90010976.	NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe) GRCh37: Chr3:49059927 GRCh38: Chr3:49022494	NDUFAF3	L19F, L76F	not provided, Mitochondrial complex I deficiency, nuclear type 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 14, 2022)	criteria provided, conflicting interpretations
Select item 90010877.	NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu) GRCh37: Chr3:49059906 GRCh38: Chr3:49022473	NDUFAF3	M12L, M69L	Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89908178.	NM_005006.7(NDUFS1):c.63T>C (p.Val21=) GRCh37: Chr2:207017233 GRCh38: Chr2:206152509	NDUFS1		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 18, 2021)	criteria provided, conflicting interpretations
Select item 89908079.	NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) GRCh37: Chr2:207017226 GRCh38: Chr2:206152502	NDUFS1	T24A, T38A	Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome, not provided	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89907980.	NM_005006.7(NDUFS1):c.261+6T>C GRCh37: Chr2:207014536 GRCh38: Chr2:206149812	NDUFS1		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89893481.	NM_005006.7(NDUFS1):c.*53T>G GRCh37: Chr2:206988856 GRCh38: Chr2:206124132	NDUFS1		not provided, Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Benign/Likely benign (Jul 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 89893382.	NM_005006.7(NDUFS1):c.*130A>C GRCh37: Chr2:206988779 GRCh38: Chr2:206124055	NDUFS1		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89887383.	NM_005006.7(NDUFS1):c.*864G>A GRCh37: Chr2:206988045 GRCh38: Chr2:206123321	NDUFS1		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89881884.	NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) GRCh37: Chr2:240961723 GRCh38: Chr2:240022306	NDUFA10	R37L	Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89875085.	NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) GRCh37: Chr2:240929565 GRCh38: Chr2:239990148	NDUFA10	S309G	Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89874986.	NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) GRCh37: Chr2:240929505 GRCh38: Chr2:239990088	NDUFA10	H329Y	Mitochondrial complex I deficiency, nuclear type 1, not provided, Leigh syndrome	Uncertain significance (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89868987.	NM_004544.4(NDUFA10):c.*428C>T GRCh37: Chr2:240900107 GRCh38: Chr2:239960690	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89868888.	NM_004544.4(NDUFA10):c.*435A>G GRCh37: Chr2:240900100 GRCh38: Chr2:239960683	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89868789.	NM_004544.4(NDUFA10):c.*445C>G GRCh37: Chr2:240900090 GRCh38: Chr2:239960673	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89862890.	NM_004544.4(NDUFA10):c.*861C>G GRCh37: Chr2:240899674 GRCh38: Chr2:239960257	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89862791.	NM_004544.4(NDUFA10):c.*1047T>C GRCh37: Chr2:240899488 GRCh38: Chr2:239960071	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89857492.	NM_004544.4(NDUFA10):c.*1303C>T GRCh37: Chr2:240899232 GRCh38: Chr2:239959815	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89857393.	NM_004544.4(NDUFA10):c.*1382C>T GRCh37: Chr2:240899153 GRCh38: Chr2:239959736	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89857294.	NM_004544.4(NDUFA10):c.*1391C>T GRCh37: Chr2:240899144 GRCh38: Chr2:239959727	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89849495.	NM_004544.4(NDUFA10):c.*1927G>C GRCh37: Chr2:240898608 GRCh38: Chr2:239959191	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89849396.	NM_004544.4(NDUFA10):c.*1930C>G GRCh37: Chr2:240898605 GRCh38: Chr2:239959188	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89849297.	NM_004544.4(NDUFA10):c.*1943A>G GRCh37: Chr2:240898592 GRCh38: Chr2:239959175	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89843098.	NM_004544.4(NDUFA10):c.*2242T>C GRCh37: Chr2:240898293 GRCh38: Chr2:239958876	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89842999.	NM_004544.4(NDUFA10):c.*2350G>A GRCh37: Chr2:240898185 GRCh38: Chr2:239958768	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 898350100.	NM_004544.4(NDUFA10):c.*3009T>C GRCh37: Chr2:240897526 GRCh38: Chr2:239958109	NDUFA10		Mitochondrial complex I deficiency, nuclear type 1, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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