"Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medici - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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

ClinVar

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Items: 35