4538[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2092121.	NC_012920.1:m.5782_13922del8141 GRCh37: ChrMT:5782-13922 GRCh38: ChrMT:5782-13922	MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TR, MT-TS1, MT-TK, MT-TL2, MT-TS2, MT-TH, MT-TY, MT-ND4, MT-TG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3		Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 2092132.	NC_012920.1:m.5794_14876del9083 GRCh37: ChrMT:5794-14876 GRCh38: ChrMT:5794-14876	MT-CYB, MT-ND3, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY, MT-ATP6, MT-ATP8, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-ND6, MT-TC, MT-TD, MT-CO1, MT-CO2, MT-CO3, MT-TE, MT-TK		Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 4306743.	NC_012920.1:m.6003_11220del5218 GRCh37: ChrMT:6003-11220 GRCh38: ChrMT:6003-11220	MT-TR, MT-TS1, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306754.	NC_012920.1:m.6469_15587del9119 GRCh37: ChrMT:6468-15586 GRCh38: ChrMT:6468-15586	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306765.	NC_012920.1:m.7129_13991del6863 GRCh37: ChrMT:7126-13988 GRCh38: ChrMT:7126-13988	MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-TD, MT-TG, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-ND4, MT-ND4L, MT-ND5, MT-TH, MT-TK, MT-ATP6, MT-ATP8		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306776.	NC_012920.1:m.7730_11255del3526 GRCh37: ChrMT:7730-11255 GRCh38: ChrMT:7730-11255	MT-CO3, MT-ND3, MT-ATP6, MT-ATP8, MT-CO2, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TR		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306787.	NC_012920.1:m.8290_13040del4751 GRCh37: ChrMT:8290-13040 GRCh38: ChrMT:8290-13040	MT-TR, MT-TS2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 6381478.	NC_012920.1:m.8350_13450del GRCh37: ChrMT:8350-13450 GRCh38: ChrMT:8350-13450	MT-TR, MT-TS2, MT-TK, MT-TL2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH		Pearson syndrome	Pathogenic (Jun 12, 2019)	no assertion criteria provided
Select item 4306809.	NC_012920.1:m.8483_13459del4977 GRCh37: ChrMT:8470-13446 GRCh38: ChrMT:8470-13446	MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2, MT-CO3, MT-ND3, MT-ND4, MT-ATP6, MT-ATP8, MT-ND4L, MT-ND5		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 63814610.	NC_012920.1:m.8480_13440del GRCh37: ChrMT:8480-13440 GRCh38: ChrMT:8480-13440	MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TR, MT-TS2, MT-TG, MT-TH, MT-TL2		Pearson syndrome	Pathogenic (Jun 12, 2019)	no assertion criteria provided
Select item 43068111.	NC_012920.1:m.8587_12967del4381 GRCh37: ChrMT:8585-12965 GRCh38: ChrMT:8585-12965	MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068212.	NC_012920.1:m.8815_13722del4908 GRCh37: ChrMT:8815-13722 GRCh38: ChrMT:8815-13722	MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068313.	NC_012920.1:m.8839_14895del6057 GRCh37: ChrMT:8839-14895 GRCh38: ChrMT:8839-14895	MT-ATP6, MT-CO3, MT-CYB, MT-ND5, MT-ND6, MT-TE, MT-TG, MT-TS2, MT-ND3, MT-ND4, MT-ND4L, MT-TH, MT-TL2, MT-TR		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068414.	NC_012920.1:m.10106_15067del4962 GRCh37: ChrMT:10105-15066 GRCh38: ChrMT:10105-15066	MT-CYB, MT-ND3, MT-ND4, MT-TH, MT-TL2, MT-TR, MT-TS2, MT-ND4L, MT-ND5, MT-ND6, MT-TE		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 69331515.	NC_012920.1(MT-ND4):m.10775G>A GRCh37: ChrMT:10775 GRCh38: ChrMT:10775	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69331616.	NC_012920.1(MT-ND4):m.10776T>C GRCh37: ChrMT:10776 GRCh38: ChrMT:10776	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69331717.	NC_012920.1(MT-ND4):m.10785T>C GRCh37: ChrMT:10785 GRCh38: ChrMT:10785	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69331818.	NC_012920.1(MT-ND4):m.10791T>C GRCh37: ChrMT:10791 GRCh38: ChrMT:10791	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 44579819.	NC_012920.1:m.10798A>G GRCh37: ChrMT:10798 GRCh38: ChrMT:10798	MT-ND4		not provided	Likely benign (Mar 8, 2017)	criteria provided, single submitter
Select item 69331920.	NC_012920.1(MT-ND4):m.10845C>T GRCh37: ChrMT:10845 GRCh38: ChrMT:10845	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69332021.	NC_012920.1(MT-ND4):m.10857T>C GRCh37: ChrMT:10857 GRCh38: ChrMT:10857	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69332122.	NC_012920.1(MT-ND4):m.10863G>A GRCh37: ChrMT:10863 GRCh38: ChrMT:10863	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 68448223.	NC_012920.1(MT-ND4):m.10887A>G GRCh37: ChrMT:10887 GRCh38: ChrMT:10887	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69332224.	NC_012920.1(MT-ND4):m.10895A>G GRCh37: ChrMT:10895 GRCh38: ChrMT:10895	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69332325.	NC_012920.1(MT-ND4):m.10899A>G GRCh37: ChrMT:10899 GRCh38: ChrMT:10899	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69332426.	NC_012920.1(MT-ND4):m.10907T>C GRCh37: ChrMT:10907 GRCh38: ChrMT:10907	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69332527.	NC_012920.1(MT-ND4):m.10911G>A GRCh37: ChrMT:10911 GRCh38: ChrMT:10911	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69332628.	NC_012920.1(MT-ND4):m.10913T>C GRCh37: ChrMT:10913 GRCh38: ChrMT:10913	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69332729.	NC_012920.1(MT-ND4):m.10914G>A GRCh37: ChrMT:10914 GRCh38: ChrMT:10914	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69332830.	NC_012920.1(MT-ND4):m.10915T>G GRCh37: ChrMT:10915 GRCh38: ChrMT:10915	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69332931.	NC_012920.1(MT-ND4):m.10920C>T GRCh37: ChrMT:10920 GRCh38: ChrMT:10920	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69333032.	NC_012920.1(MT-ND4):m.10922A>G GRCh37: ChrMT:10922 GRCh38: ChrMT:10922	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 61872833.	NC_012920.1(MT-ND4):m.10931T>C GRCh37: ChrMT:10931 GRCh38: ChrMT:10931	MT-ND4		not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2019)	criteria provided, conflicting interpretations
Select item 69333134.	NC_012920.1(MT-ND4):m.10932C>T GRCh37: ChrMT:10932 GRCh38: ChrMT:10932	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 180645635.	Single allele GRCh37: ChrMT:10947-15537 GRCh38: ChrMT:10947-15537	MT-TL2, MT-TS2, MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TE, MT-TH		Pearson syndrome	Pathogenic	criteria provided, single submitter
Select item 69333236.	NC_012920.1(MT-ND4):m.11004G>A GRCh37: ChrMT:11004 GRCh38: ChrMT:11004	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69333337.	NC_012920.1(MT-ND4):m.11013C>A GRCh37: ChrMT:11013 GRCh38: ChrMT:11013	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69333438.	NC_012920.1(MT-ND4):m.11016G>A GRCh37: ChrMT:11016 GRCh38: ChrMT:11016	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 61872939.	NC_012920.1:m.11016G>C GRCh37: ChrMT:11016 GRCh38: ChrMT:11016	MT-ND4		not provided	Uncertain significance (Jun 26, 2017)	criteria provided, single submitter
Select item 69333540.	NC_012920.1(MT-ND4):m.11025T>C GRCh37: ChrMT:11025 GRCh38: ChrMT:11025	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 48780441.	NC_012920.1:m.11032delA GRCh37: ChrMT:11032 GRCh38: ChrMT:11032	MT-ND4		Ependymoma	Uncertain significance (Dec 29, 2017)	no assertion criteria provided
Select item 69333642.	NC_012920.1(MT-ND4):m.11039C>T GRCh37: ChrMT:11039 GRCh38: ChrMT:11039	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69333743.	NC_012920.1(MT-ND4):m.11043A>G GRCh37: ChrMT:11043 GRCh38: ChrMT:11043	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69333844.	NC_012920.1(MT-ND4):m.11061C>T GRCh37: ChrMT:11061 GRCh38: ChrMT:11061	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69333945.	NC_012920.1(MT-ND4):m.11069A>G GRCh37: ChrMT:11069 GRCh38: ChrMT:11069	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 970946.	m.11084A>G GRCh37: ChrMT:11084 GRCh38: ChrMT:11084	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69334047.	NC_012920.1(MT-ND4):m.11087T>C GRCh37: ChrMT:11087 GRCh38: ChrMT:11087	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69334148.	NC_012920.1(MT-ND4):m.11090A>G GRCh37: ChrMT:11090 GRCh38: ChrMT:11090	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69334249.	NC_012920.1(MT-ND4):m.11111T>C GRCh37: ChrMT:11111 GRCh38: ChrMT:11111	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69334350.	NC_012920.1(MT-ND4):m.11120T>C GRCh37: ChrMT:11120 GRCh38: ChrMT:11120	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69334451.	NC_012920.1(MT-ND4):m.11129A>G GRCh37: ChrMT:11129 GRCh38: ChrMT:11129	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69334552.	NC_012920.1(MT-ND4):m.11139T>C GRCh37: ChrMT:11139 GRCh38: ChrMT:11139	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69334653.	NC_012920.1(MT-ND4):m.11144A>T GRCh37: ChrMT:11144 GRCh38: ChrMT:11144	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69334754.	NC_012920.1(MT-ND4):m.11150G>A GRCh37: ChrMT:11150 GRCh38: ChrMT:11150	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69334855.	NC_012920.1(MT-ND4):m.11151C>T GRCh37: ChrMT:11151 GRCh38: ChrMT:11151	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69334956.	NC_012920.1(MT-ND4):m.11157T>C GRCh37: ChrMT:11157 GRCh38: ChrMT:11157	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 23567357.	NC_012920.1:m.11167A>G GRCh37: ChrMT:11167 GRCh38: ChrMT:11167	MT-ND4		not provided	Likely benign (Sep 25, 2015)	criteria provided, single submitter
Select item 69335058.	NC_012920.1(MT-ND4):m.11172A>G GRCh37: ChrMT:11172 GRCh38: ChrMT:11172	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69335159.	NC_012920.1(MT-ND4):m.11177C>T GRCh37: ChrMT:11177 GRCh38: ChrMT:11177	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69335260.	NC_012920.1(MT-ND4):m.11204T>C GRCh37: ChrMT:11204 GRCh38: ChrMT:11204	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69335361.	NC_012920.1(MT-ND4):m.11223T>C GRCh37: ChrMT:11223 GRCh38: ChrMT:11223	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69335462.	NC_012920.1(MT-ND4):m.11232T>C GRCh37: ChrMT:11232 GRCh38: ChrMT:11232	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69335563.	NC_012920.1(MT-ND4):m.11246G>A GRCh37: ChrMT:11246 GRCh38: ChrMT:11246	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69335664.	NC_012920.1(MT-ND4):m.11252A>G GRCh37: ChrMT:11252 GRCh38: ChrMT:11252	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 6550965.	m.11253T>C GRCh37: ChrMT:11253 GRCh38: ChrMT:11253	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69335766.	NC_012920.1(MT-ND4):m.11255T>C GRCh37: ChrMT:11255 GRCh38: ChrMT:11255	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 43068567.	NC_012920.1:m.11263_15374del4112 GRCh37: ChrMT:11263-15374 GRCh38: ChrMT:11263-15374	MT-ND6, MT-TE, MT-TH, MT-CYB, MT-ND4, MT-ND5, MT-TL2, MT-TS2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 69335868.	NC_012920.1(MT-ND4):m.11268C>T GRCh37: ChrMT:11268 GRCh38: ChrMT:11268	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69335969.	NC_012920.1(MT-ND4):m.11289T>C GRCh37: ChrMT:11289 GRCh38: ChrMT:11289	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69336070.	NC_012920.1(MT-ND4):m.11301T>C GRCh37: ChrMT:11301 GRCh38: ChrMT:11301	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69336171.	NC_012920.1(MT-ND4):m.11318T>C GRCh37: ChrMT:11318 GRCh38: ChrMT:11318	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69336272.	NC_012920.1(MT-ND4):m.11337A>G GRCh37: ChrMT:11337 GRCh38: ChrMT:11337	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 52330473.	NC_012920.1:m.11360A>G GRCh37: ChrMT:11360 GRCh38: ChrMT:11360	MT-ND4		Leber optic atrophy, Leigh syndrome, Seizure	Uncertain significance (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69336374.	NC_012920.1(MT-ND4):m.11361T>C GRCh37: ChrMT:11361 GRCh38: ChrMT:11361	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69336475.	NC_012920.1(MT-ND4):m.11363G>A GRCh37: ChrMT:11363 GRCh38: ChrMT:11363	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69336576.	NC_012920.1(MT-ND4):m.11393C>T GRCh37: ChrMT:11393 GRCh38: ChrMT:11393	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 37726077.	NC_012920.1:m.11428C>T GRCh37: ChrMT:11428 GRCh38: ChrMT:11428	MT-ND4		not provided	Likely benign (Sep 14, 2016)	criteria provided, single submitter
Select item 52330578.	NC_012920.1:m.11443A>C GRCh37: ChrMT:11443 GRCh38: ChrMT:11443	MT-ND4		Visual impairment, Optic atrophy, Optic neuritis, Central scotoma, Optic neuropathy	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 69336679.	NC_012920.1(MT-ND4):m.11447G>A GRCh37: ChrMT:11447 GRCh38: ChrMT:11447	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69336780.	NC_012920.1(MT-ND4):m.11453G>A GRCh37: ChrMT:11453 GRCh38: ChrMT:11453	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 52271681.	NC_012920.1:m.11467A>G GRCh37: ChrMT:11467 GRCh38: ChrMT:11467	MT-ND4		not specified, Mitochondrial disease	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 69336882.	NC_012920.1(MT-ND4):m.11498A>G GRCh37: ChrMT:11498 GRCh38: ChrMT:11498	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 23573383.	NC_012920.1:m.11560A>G GRCh37: ChrMT:11560 GRCh38: ChrMT:11560	MT-ND4		not provided	Likely benign (Oct 9, 2015)	criteria provided, single submitter
Select item 69336984.	NC_012920.1(MT-ND4):m.11577G>A GRCh37: ChrMT:11577 GRCh38: ChrMT:11577	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69337085.	NC_012920.1(MT-ND4):m.11582A>G GRCh37: ChrMT:11582 GRCh38: ChrMT:11582	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69337186.	NC_012920.1(MT-ND4):m.11583T>C GRCh37: ChrMT:11583 GRCh38: ChrMT:11583	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 37709187.	NC_012920.1:m.11590A>G GRCh37: ChrMT:11590 GRCh38: ChrMT:11590	MT-ND4		not provided	Uncertain significance (Jan 2, 2017)	criteria provided, single submitter
Select item 69337288.	NC_012920.1(MT-ND4):m.11615A>G GRCh37: ChrMT:11615 GRCh38: ChrMT:11615	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69337389.	NC_012920.1(MT-ND4):m.11621_11622del GRCh37: ChrMT:11620-11621 GRCh38: ChrMT:11620-11621	MT-ND4		Leigh syndrome	Likely pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 69337490.	NC_012920.1(MT-ND4):m.11634G>A GRCh37: ChrMT:11634 GRCh38: ChrMT:11634	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69337591.	NC_012920.1(MT-ND4):m.11654A>G GRCh37: ChrMT:11654 GRCh38: ChrMT:11654	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 971092.	m.11696G>A GRCh37: ChrMT:11696 GRCh38: ChrMT:11696	MT-ND4		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69337693.	NC_012920.1(MT-ND4):m.11708A>G GRCh37: ChrMT:11708 GRCh38: ChrMT:11708	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69337794.	NC_012920.1(MT-ND4):m.11711G>A GRCh37: ChrMT:11711 GRCh38: ChrMT:11711	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69337895.	NC_012920.1(MT-ND4):m.11733T>C GRCh37: ChrMT:11733 GRCh38: ChrMT:11733	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 971196.	m.11777C>A GRCh37: ChrMT:11777 GRCh38: ChrMT:11777	MT-ND4		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 970897.	NC_012920.1:m.11778G>A GRCh37: ChrMT:11778 GRCh38: ChrMT:11778	MT-ND4		Mitochondrial disease	Pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69337998.	NC_012920.1(MT-ND4):m.11781T>C GRCh37: ChrMT:11781 GRCh38: ChrMT:11781	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69338099.	NC_012920.1(MT-ND4):m.11792T>G GRCh37: ChrMT:11792 GRCh38: ChrMT:11792	MT-ND4		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 693381100.	NC_012920.1(MT-ND4):m.11807A>G GRCh37: ChrMT:11807 GRCh38: ChrMT:11807	MT-ND4		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter

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