4572[geneid] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 9616	NC_012920.1(MT-TQ):m.4332G>A	MT-TQ	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689886	NC_012920.1(MT-CYB):m.4335C>T	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9615	NC_012920.1(MT-TQ):m.4336T>C	MT-TQ	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 689887	NC_012920.1(MT-CYB):m.4339G>A	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689888	NC_012920.1(MT-CYB):m.4340A>G	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689889	NC_012920.1(MT-CYB):m.4343A>G	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689890	NC_012920.1(MT-CYB):m.4350C>T	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689891	NC_012920.1(MT-CYB):m.4353T>C	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689892	NC_012920.1(MT-CYB):m.4360G>A	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 235017	NC_012920.1(MT-TQ):m.4363T>C	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more	GBenign/Likely benign
Select item 9614	m.4369_4370insA	MT-TQ	Duplication	Myopathy	GPathogenic
Select item 689893	NC_012920.1(MT-TQ):m.4370T>C	MT-TQ	Single nucleotide variant	not provided +1 more	GBenign
Select item 689894	NC_012920.1(MT-CYB):m.4371T>C	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689895	NC_012920.1(MT-CYB):m.4372C>T	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 689896	NC_012920.1(MT-CYB):m.4373T>C	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689897	NC_012920.1(MT-CYB):m.4375C>T	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689898	NC_012920.1(MT-CYB):m.4381A>G	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689900	NC_012920.1(MT-CYB):m.4384T>A	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689899	NC_012920.1(MT-CYB):m.4384T>C	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689902	NC_012920.1(MT-CYB):m.4385A>G	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689901	NC_012920.1(MT-CYB):m.4385A>T	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689903	NC_012920.1(MT-CYB):m.4386T>C	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689904	NC_012920.1(MT-CYB):m.4387C>T	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 235438	NC_012920.1(MT-TQ):m.4388A>G	MT-TQ	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 689905	NC_012920.1(MT-CYB):m.4394C>A	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689906	NC_012920.1(MT-CYB):m.4395A>G	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689907	NC_012920.1(MT-CYB):m.4399T>C	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689908	NC_012920.1(MT-CYB):m.4400A>G	MT-TQ	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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Items: 30