4553[geneid] - ClinVar

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Items: 25

	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 689949	NC_012920.1(MT-CYB):m.5590G>A	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9625	NC_012920.1(MT-TA):m.5591G>A	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more	GPathogenic
Select item 689950	NC_012920.1(MT-CYB):m.5592A>G	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689951	NC_012920.1(MT-CYB):m.5600A>G	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689952	NC_012920.1(MT-CYB):m.5601C>T	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689953	NC_012920.1(MT-CYB):m.5603C>T	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689954	NC_012920.1(MT-CYB):m.5604C>T	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689955	NC_012920.1(MT-CYB):m.5605A>G	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689956	NC_012920.1(MT-CYB):m.5607T>C	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689957	NC_012920.1(MT-CYB):m.5608C>T	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689958	NC_012920.1(MT-CYB):m.5609T>C	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 162370	NC_012920.1(MT-TA):m.5610G>A	MT-TA	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1684909	NC_012920.1(MT-TA):m.5613T>C	MT-TA	Single nucleotide variant	not specified	GUncertain significance
Select item 689959	NC_012920.1(MT-CYB):m.5618T>C	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689960	NC_012920.1(MT-CYB):m.5619G>A	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689961	NC_012920.1(MT-CYB):m.5628T>C	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 162369	NC_012920.1(MT-TA):m.5631G>A	MT-TA	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689962	NC_012920.1(MT-CYB):m.5633C>T	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689963	NC_012920.1(MT-CYB):m.5640A>G	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689964	NC_012920.1(MT-CYB):m.5645G>A	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9624	NC_012920.1(MT-TA):m.5650G>A	MT-TA	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689965	NC_012920.1(MT-CYB):m.5654T>C	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689966	NC_012920.1(MT-CYB):m.5655T>C	MT-TA	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
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: 25