4541[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2092131.	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 4306752.	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 4306833.	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 4306844.	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 18064565.	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 4306856.	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 4306867.	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 6936788.	NC_012920.1(MT-ND6):m.14153T>C GRCh37: ChrMT:14153 GRCh38: ChrMT:14153	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 6936799.	NC_012920.1(MT-ND6):m.14154T>G GRCh37: ChrMT:14154 GRCh38: ChrMT:14154	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69368010.	NC_012920.1(MT-ND6):m.14162G>A GRCh37: ChrMT:14162 GRCh38: ChrMT:14162	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368111.	NC_012920.1(MT-ND6):m.14163C>T GRCh37: ChrMT:14163 GRCh38: ChrMT:14163	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368212.	NC_012920.1(MT-ND6):m.14178T>C GRCh37: ChrMT:14178 GRCh38: ChrMT:14178	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368413.	NC_012920.1(MT-ND6):m.14180T>C GRCh37: ChrMT:14180 GRCh38: ChrMT:14180	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368314.	NC_012920.1(MT-ND6):m.14180T>G GRCh37: ChrMT:14180 GRCh38: ChrMT:14180	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69368515.	NC_012920.1(MT-ND6):m.14181A>G GRCh37: ChrMT:14181 GRCh38: ChrMT:14181	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368616.	NC_012920.1(MT-ND6):m.14189A>G GRCh37: ChrMT:14189 GRCh38: ChrMT:14189	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368717.	NC_012920.1(MT-ND6):m.14193A>G GRCh37: ChrMT:14193 GRCh38: ChrMT:14193	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368818.	NC_012920.1(MT-ND6):m.14198G>A GRCh37: ChrMT:14198 GRCh38: ChrMT:14198	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69368919.	NC_012920.1(MT-ND6):m.14199T>C GRCh37: ChrMT:14199 GRCh38: ChrMT:14199	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69369020.	NC_012920.1(MT-ND6):m.14207G>A GRCh37: ChrMT:14207 GRCh38: ChrMT:14207	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69369121.	NC_012920.1(MT-ND6):m.14210A>G GRCh37: ChrMT:14210 GRCh38: ChrMT:14210	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69369222.	NC_012920.1(MT-ND6):m.14211C>T GRCh37: ChrMT:14211 GRCh38: ChrMT:14211	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69369323.	NC_012920.1(MT-ND6):m.14225C>T GRCh37: ChrMT:14225 GRCh38: ChrMT:14225	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69369424.	NC_012920.1(MT-ND6):m.14226G>A GRCh37: ChrMT:14226 GRCh38: ChrMT:14226	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69369525.	NC_012920.1(MT-ND6):m.14231T>C GRCh37: ChrMT:14231 GRCh38: ChrMT:14231	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69369626.	NC_012920.1(MT-ND6):m.14234T>C GRCh37: ChrMT:14234 GRCh38: ChrMT:14234	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 22477627.	NC_012920.1:m.14248dupC GRCh37: ChrMT:14243-14244 GRCh38: ChrMT:14243-14244	MT-ND6		Oxyphilic adenoma	Pathogenic (Sep 15, 2011)	no assertion criteria provided
Select item 69369728.	NC_012920.1(MT-ND6):m.14249G>A GRCh37: ChrMT:14249 GRCh38: ChrMT:14249	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69369829.	NC_012920.1(MT-ND6):m.14256T>C GRCh37: ChrMT:14256 GRCh38: ChrMT:14256	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69369930.	NC_012920.1(MT-ND6):m.14258G>A GRCh37: ChrMT:14258 GRCh38: ChrMT:14258	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69370031.	NC_012920.1(MT-ND6):m.14259G>A GRCh37: ChrMT:14259 GRCh38: ChrMT:14259	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69370132.	NC_012920.1(MT-ND6):m.14276C>T GRCh37: ChrMT:14276 GRCh38: ChrMT:14276	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 6551633.	m.14279G>A GRCh37: ChrMT:14279 GRCh38: ChrMT:14279	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69370334.	NC_012920.1(MT-ND6):m.14280A>C GRCh37: ChrMT:14280 GRCh38: ChrMT:14280	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69370235.	NC_012920.1(MT-ND6):m.14280A>G GRCh37: ChrMT:14280 GRCh38: ChrMT:14280	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69370436.	NC_012920.1(MT-ND6):m.14297A>G GRCh37: ChrMT:14297 GRCh38: ChrMT:14297	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69370537.	NC_012920.1(MT-ND6):m.14301T>C GRCh37: ChrMT:14301 GRCh38: ChrMT:14301	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69370638.	NC_012920.1(MT-ND6):m.14307T>C GRCh37: ChrMT:14307 GRCh38: ChrMT:14307	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69370739.	NC_012920.1(MT-ND6):m.14312A>G GRCh37: ChrMT:14312 GRCh38: ChrMT:14312	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69370840.	NC_012920.1(MT-ND6):m.14315C>T GRCh37: ChrMT:14315 GRCh38: ChrMT:14315	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69370941.	NC_012920.1(MT-ND6):m.14318T>C GRCh37: ChrMT:14318 GRCh38: ChrMT:14318	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 969542.	m.14319T>C GRCh37: ChrMT:14319 GRCh38: ChrMT:14319	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 6551243.	m.14325T>C GRCh37: ChrMT:14325 GRCh38: ChrMT:14325	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69371044.	NC_012920.1(MT-ND6):m.14328C>T GRCh37: ChrMT:14328 GRCh38: ChrMT:14328	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69371145.	NC_012920.1(MT-ND6):m.14334C>T GRCh37: ChrMT:14334 GRCh38: ChrMT:14334	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69371246.	NC_012920.1(MT-ND6):m.14339A>G GRCh37: ChrMT:14339 GRCh38: ChrMT:14339	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69371347.	NC_012920.1(MT-ND6):m.14340C>T GRCh37: ChrMT:14340 GRCh38: ChrMT:14340	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69371448.	NC_012920.1(MT-ND6):m.14348T>C GRCh37: ChrMT:14348 GRCh38: ChrMT:14348	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69371549.	NC_012920.1(MT-ND6):m.14357A>G GRCh37: ChrMT:14357 GRCh38: ChrMT:14357	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 21834450.	NC_012920.1:m.14372C>A GRCh37: ChrMT:14372 GRCh38: ChrMT:14372	MT-ND6		Acute megakaryocytic leukemia, Mediastinal germ cell tumor	Uncertain significance (Oct 22, 2015)	no assertion criteria provided
Select item 69371651.	NC_012920.1(MT-ND6):m.14375A>C GRCh37: ChrMT:14375 GRCh38: ChrMT:14375	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69371752.	NC_012920.1(MT-ND6):m.14382T>G GRCh37: ChrMT:14382 GRCh38: ChrMT:14382	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69371853.	NC_012920.1(MT-ND6):m.14384G>A GRCh37: ChrMT:14384 GRCh38: ChrMT:14384	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 23574354.	NC_012920.1(MT-ND6):m.14393A>G GRCh37: ChrMT:14393 GRCh38: ChrMT:14393	MT-ND6		not provided, Leigh syndrome	Benign/Likely benign (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69371955.	NC_012920.1(MT-ND6):m.14405A>G GRCh37: ChrMT:14405 GRCh38: ChrMT:14405	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69372056.	NC_012920.1(MT-ND6):m.14417A>G GRCh37: ChrMT:14417 GRCh38: ChrMT:14417	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69372157.	NC_012920.1(MT-ND6):m.14420C>T GRCh37: ChrMT:14420 GRCh38: ChrMT:14420	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69372258.	NC_012920.1(MT-ND6):m.14423G>A GRCh37: ChrMT:14423 GRCh38: ChrMT:14423	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69372359.	NC_012920.1(MT-ND6):m.14433C>T GRCh37: ChrMT:14433 GRCh38: ChrMT:14433	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69372460.	NC_012920.1(MT-ND6):m.14444T>C GRCh37: ChrMT:14444 GRCh38: ChrMT:14444	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 969261.	m.14453G>A GRCh37: ChrMT:14453 GRCh38: ChrMT:14453	MT-ND6		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 968962.	m.14459G>A GRCh37: ChrMT:14459 GRCh38: ChrMT:14459	MT-ND6		Mitochondrial disease	Pathogenic (Nov 1, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69372563.	NC_012920.1(MT-ND6):m.14462G>A GRCh37: ChrMT:14462 GRCh38: ChrMT:14462	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69372664.	NC_012920.1(MT-ND6):m.14465G>A GRCh37: ChrMT:14465 GRCh38: ChrMT:14465	MT-ND6		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Oct 17, 2019)	criteria provided, single submitter
Select item 69372765.	NC_012920.1(MT-ND6):m.14466T>C GRCh37: ChrMT:14466 GRCh38: ChrMT:14466	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69372866.	NC_012920.1(MT-ND6):m.14468T>C GRCh37: ChrMT:14468 GRCh38: ChrMT:14468	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 23557467.	NC_012920.1:m.14470T>A GRCh37: ChrMT:14470 GRCh38: ChrMT:14470	MT-ND6		not provided	Likely benign (May 29, 2015)	criteria provided, single submitter
Select item 37699868.	NC_012920.1:m.14476G>A GRCh37: ChrMT:14476 GRCh38: ChrMT:14476	MT-ND6		not provided	Benign (Jan 3, 2017)	criteria provided, single submitter
Select item 52330669.	NC_012920.1:m.14477A>G GRCh37: ChrMT:14477 GRCh38: ChrMT:14477	MT-ND6		Constriction of peripheral visual field, Abnormality of brain morphology, Vertigo, Muscle spasm, Paresthesia, Cognitive impairment, Headache	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 6551370.	m.14482C>G GRCh37: ChrMT:14482 GRCh38: ChrMT:14482	MT-ND6		Mitochondrial disease	Likely pathogenic (Jul 11, 2022)	reviewed by expert panel FDA Recognized Database
Select item 969371.	m.14482C>A GRCh37: ChrMT:14482 GRCh38: ChrMT:14482	MT-ND6		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69372972.	NC_012920.1(MT-ND6):m.14484T>G GRCh37: ChrMT:14484 GRCh38: ChrMT:14484	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 968873.	NC_012920.1:m.14484T>C GRCh37: ChrMT:14484 GRCh38: ChrMT:14484	MT-ND6		Mitochondrial disease	Pathogenic (Sep 12, 2022)	reviewed by expert panel FDA Recognized Database
Select item 969474.	m.14487T>C GRCh37: ChrMT:14487 GRCh38: ChrMT:14487	MT-ND6		Mitochondrial disease	Pathogenic (Aug 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 969175.	m.14495A>G GRCh37: ChrMT:14495 GRCh38: ChrMT:14495	MT-ND6		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 6551476.	m.14498T>C GRCh37: ChrMT:14498 GRCh38: ChrMT:14498	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69028177.	NC_012920.1(MT-ND6):m.14502T>C GRCh37: ChrMT:14502 GRCh38: ChrMT:14502	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 80050378.	NC_012920.1(MT-ND6):m.14513_14514del GRCh37: ChrMT:14512-14513 GRCh38: ChrMT:14512-14513	MT-ND6		Mitochondrial disease	Pathogenic (Dec 9, 2019)	criteria provided, single submitter
Select item 69373079.	NC_012920.1(MT-ND6):m.14514T>C GRCh37: ChrMT:14514 GRCh38: ChrMT:14514	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69373180.	NC_012920.1(MT-ND6):m.14523T>C GRCh37: ChrMT:14523 GRCh38: ChrMT:14523	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69373281.	NC_012920.1(MT-ND6):m.14529C>T GRCh37: ChrMT:14529 GRCh38: ChrMT:14529	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69373382.	NC_012920.1(MT-ND6):m.14544G>T GRCh37: ChrMT:14544 GRCh38: ChrMT:14544	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69373483.	NC_012920.1(MT-ND6):m.14552A>G GRCh37: ChrMT:14552 GRCh38: ChrMT:14552	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69373584.	NC_012920.1(MT-ND6):m.14553C>T GRCh37: ChrMT:14553 GRCh38: ChrMT:14553	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69373685.	NC_012920.1(MT-ND6):m.14562C>T GRCh37: ChrMT:14562 GRCh38: ChrMT:14562	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 37005986.	NC_012920.1:m.14563C>T GRCh37: ChrMT:14563 GRCh38: ChrMT:14563	MT-ND6		Mitochondrial cytopathy	Uncertain significance (Nov 21, 2016)	no assertion criteria provided
Select item 69373787.	NC_012920.1(MT-ND6):m.14564A>G GRCh37: ChrMT:14564 GRCh38: ChrMT:14564	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 6551588.	m.14568C>T GRCh37: ChrMT:14568 GRCh38: ChrMT:14568	MT-ND6		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69373889.	NC_012920.1(MT-ND6):m.14571T>A GRCh37: ChrMT:14571 GRCh38: ChrMT:14571	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69373990.	NC_012920.1(MT-ND6):m.14573A>G GRCh37: ChrMT:14573 GRCh38: ChrMT:14573	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69374091.	NC_012920.1(MT-ND6):m.14574C>T GRCh37: ChrMT:14574 GRCh38: ChrMT:14574	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69374192.	NC_012920.1(MT-ND6):m.14576A>G GRCh37: ChrMT:14576 GRCh38: ChrMT:14576	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69374393.	NC_012920.1(MT-ND6):m.14577T>C GRCh37: ChrMT:14577 GRCh38: ChrMT:14577	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69374294.	NC_012920.1(MT-ND6):m.14577T>G GRCh37: ChrMT:14577 GRCh38: ChrMT:14577	MT-ND6		Leigh syndrome	Likely benign (Oct 17, 2019)	criteria provided, single submitter
Select item 69374495.	NC_012920.1(MT-ND6):m.14582A>G GRCh37: ChrMT:14582 GRCh38: ChrMT:14582	MT-ND6		Leigh syndrome	Benign (Oct 17, 2019)	criteria provided, single submitter
Select item 969096.	m.14596A>T GRCh37: ChrMT:14596 GRCh38: ChrMT:14596	MT-ND6		Leber optic atrophy and dystonia	Pathogenic (Apr 1, 1996)	no assertion criteria provided
Select item 20917397.	NC_012920.1:m.14597A>G GRCh37: ChrMT:14597 GRCh38: ChrMT:14597	MT-ND6		not specified, Dystonic disorder, Dysarthria, Leigh syndrome	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 37408098.	NC_012920.1:m.14598T>C GRCh37: ChrMT:14598 GRCh38: ChrMT:14598	MT-ND6		Leigh syndrome, Parkinsonism, Blindness	Conflicting interpretations of pathogenicity (Oct 17, 2019)	criteria provided, conflicting interpretations
Select item 69374599.	NC_012920.1(MT-ND6):m.14601G>A GRCh37: ChrMT:14601 GRCh38: ChrMT:14601	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 693746100.	NC_012920.1(MT-ND6):m.14615G>A GRCh37: ChrMT:14615 GRCh38: ChrMT:14615	MT-ND6		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter

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