MT-TH[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1(MT-TY):m.5782_13922del	MT-ND4, MT-ND4L +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1(MT-TY):m.5794_14876del	MT-ATP6, MT-ATP8 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1(MT-TS2):m.7129_13991del	MT-CO3, MT-ND3 +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1(MT-TS2):m.8290_13040del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638146	NC_012920.1(MT-TS2):m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 430681	NC_012920.1(MT-TS2):m.8587_12967del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430682	NC_012920.1(MT-TS2):m.8815_13722del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430683	NC_012920.1(MT-TS2):m.8839_14895del	MT-ND5, MT-ND6 +12 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 430684	NC_012920.1(MT-TS2):m.10106_15067del	MT-ND5, MT-ND6 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 3062020	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	not provided	GPathogenic
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 430685	NC_012920.1(MT-TS2):m.11263_15374del	MT-TE, MT-CYB +6 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430686	NC_012920.1(MT-TS2):m.12114_14420del	MT-ND4, MT-ND5 +4 more	Deletion	Mitochondrial disease	GPathogenic
Select item 690129	NC_012920.1(MT-CYB):m.12141A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690130	NC_012920.1(MT-CYB):m.12142A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690131	NC_012920.1(MT-CYB):m.12143T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690132	NC_012920.1(MT-CYB):m.12144A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684913	NC_012920.1(MT-TH):m.12146A>G	MT-TH	Single nucleotide variant	not specified	GUncertain significance
Select item 9610	m.12147G>A	MT-TH	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690133	NC_012920.1(MT-CYB):m.12148T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 690134	NC_012920.1(MT-CYB):m.12150T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690135	NC_012920.1(MT-CYB):m.12151A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 376983	NC_012920.1(MT-TH):m.12153C>T	MT-TH	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 690136	NC_012920.1(MT-CYB):m.12160A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690137	NC_012920.1(MT-CYB):m.12161T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690138	NC_012920.1(MT-CYB):m.12163A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690139	NC_012920.1(MT-CYB):m.12164G>A	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690140	NC_012920.1(MT-CYB):m.12166T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 441080	NC_012920.1:m.12170G>A	MT-TH	Single nucleotide variant	mtDNA-related disorders	Gnot provided
Select item 690141	NC_012920.1(MT-CYB):m.12171A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690142	NC_012920.1(MT-CYB):m.12172A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690144	NC_012920.1(MT-CYB):m.12173T>A	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690143	NC_012920.1(MT-CYB):m.12173T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 376964	NC_012920.1(MT-TH):m.12175T>C	MT-TH	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 690145	NC_012920.1(MT-CYB):m.12176G>A	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 618221	NC_012920.1:m.12177A>G	MT-TH	Single nucleotide variant	not provided	GUncertain significance
Select item 690146	NC_012920.1(MT-CYB):m.12178C>T	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690147	NC_012920.1(MT-CYB):m.12181C>T	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 9609	m.12183G>A	MT-TH	Single nucleotide variant	Pigmentary retinopathy and sensorineural deafness	GPathogenic
Select item 690148	NC_012920.1(MT-CYB):m.12184A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690149	NC_012920.1(MT-CYB):m.12185G>A	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684914	NC_012920.1(MT-TH):m.12187C>A	MT-TH	Single nucleotide variant	not specified	GUncertain significance
Select item 918020	NC_012920.1(MT-TH):m.12187C>T	MT-TH	Single nucleotide variant	not provided	Gnot provided
Select item 690150	NC_012920.1(MT-CYB):m.12188T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690151	NC_012920.1(MT-CYB):m.12189T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690152	NC_012920.1(MT-CYB):m.12191C>T	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9608	m.12192G>A	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690153	NC_012920.1(MT-CYB):m.12193A>G	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690154	NC_012920.1(MT-CYB):m.12196C>T	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 30004	m.12201T>C	MT-TH	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690155	NC_012920.1(MT-CYB):m.12202T>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690156	NC_012920.1(MT-CYB):m.12204A>C	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690157	NC_012920.1(MT-CYB):m.12205C>T	MT-TH	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance

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Items: 57