4540[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 4306753.	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 4306764.	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 4306785.	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 6381476.	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 4306807.	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 6381468.	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 4306819.	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 43068210.	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 43068311.	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 43068412.	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 180645613.	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 43068514.	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 43068615.	NC_012920.1:m.12114_14420del2307 GRCh37: ChrMT:12114-14420 GRCh38: ChrMT:12114-14420	MT-ND4, MT-ND5, MT-ND6, MT-TH, MT-TL2, MT-TS2		Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 2999916.	m.12338T>C GRCh37: ChrMT:12338 GRCh38: ChrMT:12338	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69341917.	NC_012920.1(MT-ND5):m.12340A>G GRCh37: ChrMT:12340 GRCh38: ChrMT:12340	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69342018.	NC_012920.1(MT-ND5):m.12341C>T GRCh37: ChrMT:12341 GRCh38: ChrMT:12341	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69342119.	NC_012920.1(MT-ND5):m.12344T>C GRCh37: ChrMT:12344 GRCh38: ChrMT:12344	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 44536320.	NC_012920.1(MT-ND5):m.12346C>T GRCh37: ChrMT:12346 GRCh38: ChrMT:12346	MT-ND5		not provided, Leigh syndrome	Benign/Likely benign (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69342221.	NC_012920.1(MT-ND5):m.12349A>G GRCh37: ChrMT:12349 GRCh38: ChrMT:12349	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69342322.	NC_012920.1(MT-ND5):m.12352A>G GRCh37: ChrMT:12352 GRCh38: ChrMT:12352	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69342423.	NC_012920.1(MT-ND5):m.12358A>G GRCh37: ChrMT:12358 GRCh38: ChrMT:12358	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69342524.	NC_012920.1(MT-ND5):m.12361A>G GRCh37: ChrMT:12361 GRCh38: ChrMT:12361	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69342625.	NC_012920.1(MT-ND5):m.12362C>T GRCh37: ChrMT:12362 GRCh38: ChrMT:12362	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69342726.	NC_012920.1(MT-ND5):m.12367A>G GRCh37: ChrMT:12367 GRCh38: ChrMT:12367	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 52271727.	NC_012920.1:m.12372G>A GRCh37: ChrMT:12372 GRCh38: ChrMT:12372	MT-ND5		not specified, Mitochondrial disease	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 69342828.	NC_012920.1(MT-ND5):m.12373A>G GRCh37: ChrMT:12373 GRCh38: ChrMT:12373	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69342929.	NC_012920.1(MT-ND5):m.12382A>G GRCh37: ChrMT:12382 GRCh38: ChrMT:12382	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69343030.	NC_012920.1(MT-ND5):m.12383T>C GRCh37: ChrMT:12383 GRCh38: ChrMT:12383	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69343131.	NC_012920.1(MT-ND5):m.12386C>T GRCh37: ChrMT:12386 GRCh38: ChrMT:12386	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69343232.	NC_012920.1(MT-ND5):m.12389C>T GRCh37: ChrMT:12389 GRCh38: ChrMT:12389	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 970533.	m.12397A>G GRCh37: ChrMT:12397 GRCh38: ChrMT:12397	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69343334.	NC_012920.1(MT-ND5):m.12400A>G GRCh37: ChrMT:12400 GRCh38: ChrMT:12400	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69343435.	NC_012920.1(MT-ND5):m.12401C>T GRCh37: ChrMT:12401 GRCh38: ChrMT:12401	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69343536.	NC_012920.1(MT-ND5):m.12403C>T GRCh37: ChrMT:12403 GRCh38: ChrMT:12403	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69343637.	NC_012920.1(MT-ND5):m.12406G>A GRCh37: ChrMT:12406 GRCh38: ChrMT:12406	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69343738.	NC_012920.1(MT-ND5):m.12410A>G GRCh37: ChrMT:12410 GRCh38: ChrMT:12410	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69344039.	NC_012920.1(MT-ND5):m.12425del GRCh37: ChrMT:12418 GRCh38: ChrMT:12418	MT-ND5		Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Leber optic atrophy, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69343840.	NC_012920.1(MT-ND5):m.12424A>G GRCh37: ChrMT:12424 GRCh38: ChrMT:12424	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69343941.	NC_012920.1(MT-ND5):m.12425A>G GRCh37: ChrMT:12425 GRCh38: ChrMT:12425	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69344142.	NC_012920.1(MT-ND5):m.12426C>A GRCh37: ChrMT:12426 GRCh38: ChrMT:12426	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 23547143.	NC_012920.1:m.12432C>T GRCh37: ChrMT:12432 GRCh38: ChrMT:12432	MT-ND5		not provided	Uncertain significance (Dec 22, 2015)	criteria provided, single submitter
Select item 69344244.	NC_012920.1(MT-ND5):m.12436C>T GRCh37: ChrMT:12436 GRCh38: ChrMT:12436	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69344345.	NC_012920.1(MT-ND5):m.12437A>G GRCh37: ChrMT:12437 GRCh38: ChrMT:12437	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69344546.	NC_012920.1(MT-ND5):m.12448T>C GRCh37: ChrMT:12448 GRCh38: ChrMT:12448	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69344447.	NC_012920.1(MT-ND5):m.12448T>A GRCh37: ChrMT:12448 GRCh38: ChrMT:12448	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69344648.	NC_012920.1(MT-ND5):m.12451A>G GRCh37: ChrMT:12451 GRCh38: ChrMT:12451	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69344749.	NC_012920.1(MT-ND5):m.12454G>A GRCh37: ChrMT:12454 GRCh38: ChrMT:12454	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69344850.	NC_012920.1(MT-ND5):m.12457G>A GRCh37: ChrMT:12457 GRCh38: ChrMT:12457	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69344951.	NC_012920.1(MT-ND5):m.12458C>T GRCh37: ChrMT:12458 GRCh38: ChrMT:12458	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69345052.	NC_012920.1(MT-ND5):m.12479T>C GRCh37: ChrMT:12479 GRCh38: ChrMT:12479	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69345253.	NC_012920.1(MT-ND5):m.12481T>A GRCh37: ChrMT:12481 GRCh38: ChrMT:12481	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69345154.	NC_012920.1(MT-ND5):m.12481T>C GRCh37: ChrMT:12481 GRCh38: ChrMT:12481	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69345355.	NC_012920.1(MT-ND5):m.12490A>G GRCh37: ChrMT:12490 GRCh38: ChrMT:12490	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 44603456.	NC_012920.1:m.12493A>G GRCh37: ChrMT:12493 GRCh38: ChrMT:12493	MT-ND5		not provided	Uncertain significance (Apr 11, 2017)	criteria provided, single submitter
Select item 91802757.	NC_012920.1(MT-ND5):m.12499A>G GRCh37: ChrMT:12499 GRCh38: ChrMT:12499	MT-ND5		not provided	not provided	no assertion provided
Select item 69345458.	NC_012920.1(MT-ND5):m.12501G>C GRCh37: ChrMT:12501 GRCh38: ChrMT:12501	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69345559.	NC_012920.1(MT-ND5):m.12509A>G GRCh37: ChrMT:12509 GRCh38: ChrMT:12509	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69345660.	NC_012920.1(MT-ND5):m.12512A>T GRCh37: ChrMT:12512 GRCh38: ChrMT:12512	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69345761.	NC_012920.1(MT-ND5):m.12520A>G GRCh37: ChrMT:12520 GRCh38: ChrMT:12520	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69345862.	NC_012920.1(MT-ND5):m.12530A>G GRCh37: ChrMT:12530 GRCh38: ChrMT:12530	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 23501063.	NC_012920.1:m.12535C>T GRCh37: ChrMT:12535 GRCh38: ChrMT:12535	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69345964.	NC_012920.1(MT-ND5):m.12542C>T GRCh37: ChrMT:12542 GRCh38: ChrMT:12542	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69346065.	NC_012920.1(MT-ND5):m.12544A>G GRCh37: ChrMT:12544 GRCh38: ChrMT:12544	MT-ND5		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69346166.	NC_012920.1(MT-ND5):m.12545C>T GRCh37: ChrMT:12545 GRCh38: ChrMT:12545	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69346267.	NC_012920.1(MT-ND5):m.12556A>G GRCh37: ChrMT:12556 GRCh38: ChrMT:12556	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69346368.	NC_012920.1(MT-ND5):m.12557C>T GRCh37: ChrMT:12557 GRCh38: ChrMT:12557	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69346469.	NC_012920.1(MT-ND5):m.12560A>G GRCh37: ChrMT:12560 GRCh38: ChrMT:12560	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69346570.	NC_012920.1(MT-ND5):m.12561G>C GRCh37: ChrMT:12561 GRCh38: ChrMT:12561	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69346671.	NC_012920.1(MT-ND5):m.12587A>G GRCh37: ChrMT:12587 GRCh38: ChrMT:12587	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69346772.	NC_012920.1(MT-ND5):m.12599T>C GRCh37: ChrMT:12599 GRCh38: ChrMT:12599	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69346873.	NC_012920.1(MT-ND5):m.12601T>C GRCh37: ChrMT:12601 GRCh38: ChrMT:12601	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69346974.	NC_012920.1(MT-ND5):m.12613G>T GRCh37: ChrMT:12613 GRCh38: ChrMT:12613	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69347075.	NC_012920.1(MT-ND5):m.12622G>A GRCh37: ChrMT:12622 GRCh38: ChrMT:12622	MT-ND5		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69347176.	NC_012920.1(MT-ND5):m.12631T>C GRCh37: ChrMT:12631 GRCh38: ChrMT:12631	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69347277.	NC_012920.1(MT-ND5):m.12634A>G GRCh37: ChrMT:12634 GRCh38: ChrMT:12634	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69347378.	NC_012920.1(MT-ND5):m.12661A>T GRCh37: ChrMT:12661 GRCh38: ChrMT:12661	MT-ND5	N109Y	Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69347479.	NC_012920.1(MT-ND5):m.12662A>G GRCh37: ChrMT:12662 GRCh38: ChrMT:12662	MT-ND5	N109S	Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69347580.	NC_012920.1(MT-ND5):m.12673A>G GRCh37: ChrMT:12673 GRCh38: ChrMT:12673	MT-ND5	N113D	Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69347681.	NC_012920.1(MT-ND5):m.12674A>G GRCh37: ChrMT:12674 GRCh38: ChrMT:12674	MT-ND5	N113S	Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 23561382.	NC_012920.1:m.12681T>C GRCh37: ChrMT:12681 GRCh38: ChrMT:12681	MT-ND5		not provided	Likely benign (Aug 12, 2015)	criteria provided, single submitter
Select item 969883.	m.12706T>C GRCh37: ChrMT:12706 GRCh38: ChrMT:12706	MT-ND5	F124L	Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69347784.	NC_012920.1(MT-ND5):m.12713T>C GRCh37: ChrMT:12713 GRCh38: ChrMT:12713	MT-ND5	I126T	Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69347885.	NC_012920.1(MT-ND5):m.12715A>G GRCh37: ChrMT:12715 GRCh38: ChrMT:12715	MT-ND5	T127A	Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69347986.	NC_012920.1(MT-ND5):m.12730G>A GRCh37: ChrMT:12730 GRCh38: ChrMT:12730	MT-ND5	V132I	Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69348087.	NC_012920.1(MT-ND5):m.12743A>G GRCh37: ChrMT:12743 GRCh38: ChrMT:12743	MT-ND5	N136S	Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69348188.	NC_012920.1(MT-ND5):m.12757T>C GRCh37: ChrMT:12757 GRCh38: ChrMT:12757	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 969989.	m.12770A>G GRCh37: ChrMT:12770 GRCh38: ChrMT:12770	MT-ND5		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (Jan 1, 2003)	no assertion criteria provided
Select item 69348290.	NC_012920.1(MT-ND5):m.12775G>A GRCh37: ChrMT:12775 GRCh38: ChrMT:12775	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69348391.	NC_012920.1(MT-ND5):m.12797T>C GRCh37: ChrMT:12797 GRCh38: ChrMT:12797	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69348492.	NC_012920.1(MT-ND5):m.12799A>G GRCh37: ChrMT:12799 GRCh38: ChrMT:12799	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 23549993.	NC_012920.1:m.12810A>G GRCh37: ChrMT:12810 GRCh38: ChrMT:12810	MT-ND5		not provided	Likely benign (Aug 12, 2015)	criteria provided, single submitter
Select item 6551094.	m.12811T>C GRCh37: ChrMT:12811 GRCh38: ChrMT:12811	MT-ND5		Mitochondrial disease	Benign (Apr 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69348595.	NC_012920.1(MT-ND5):m.12814G>A GRCh37: ChrMT:12814 GRCh38: ChrMT:12814	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69348696.	NC_012920.1(MT-ND5):m.12820G>A GRCh37: ChrMT:12820 GRCh38: ChrMT:12820	MT-ND5		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69348797.	NC_012920.1(MT-ND5):m.12835G>A GRCh37: ChrMT:12835 GRCh38: ChrMT:12835	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69348898.	NC_012920.1(MT-ND5):m.12836C>T GRCh37: ChrMT:12836 GRCh38: ChrMT:12836	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69348999.	NC_012920.1(MT-ND5):m.12842T>C GRCh37: ChrMT:12842 GRCh38: ChrMT:12842	MT-ND5		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 9704100.	m.12848C>T GRCh37: ChrMT:12848 GRCh38: ChrMT:12848	MT-ND5		Leber optic atrophy	Pathogenic (Nov 1, 2005)	no assertion criteria provided

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