4555[geneid] - ClinVar

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Items: 36

	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 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 430674	NC_012920.1(MT-TS1):m.6005_11222del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
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 690035	NC_012920.1(MT-CYB):m.7518A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690036	NC_012920.1(MT-CYB):m.7520G>A	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690037	NC_012920.1(MT-CYB):m.7521G>A	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690038	NC_012920.1(MT-CYB):m.7525T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9619	m.7526A>G	MT-TD	Single nucleotide variant	Mitochondrial myopathy, isolated	GPathogenic
Select item 690039	NC_012920.1(MT-CYB):m.7533C>T	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690040	NC_012920.1(MT-CYB):m.7534C>T	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690041	NC_012920.1(MT-CYB):m.7538T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690042	NC_012920.1(MT-CYB):m.7543A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690043	NC_012920.1(MT-CYB):m.7546T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690044	NC_012920.1(MT-CYB):m.7547T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690045	NC_012920.1(MT-CYB):m.7552A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 1684910	NC_012920.1(MT-TD):m.7554G>A	MT-TD	Single nucleotide variant	not specified	GUncertain significance
Select item 690046	NC_012920.1(MT-CYB):m.7555T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690047	NC_012920.1(MT-CYB):m.7559A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690048	NC_012920.1(MT-CYB):m.7561T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690049	NC_012920.1(MT-CYB):m.7562A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690050	NC_012920.1(MT-TD):m.7566G>A	MT-TD	Single nucleotide variant	Mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 690053	NC_012920.1(MT-CYB):m.7568dup	MT-TD	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690051	NC_012920.1(MT-CYB):m.7567C>T	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690052	NC_012920.1(MT-CYB):m.7568T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690054	NC_012920.1(MT-CYB):m.7569A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690055	NC_012920.1(MT-CYB):m.7570A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690056	NC_012920.1(MT-CYB):m.7572T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690057	NC_012920.1(MT-CYB):m.7576A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690058	NC_012920.1(MT-CYB):m.7577T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690059	NC_012920.1(MT-CYB):m.7581T>C	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690060	NC_012920.1(MT-CYB):m.7582C>T	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690061	NC_012920.1(MT-TD):m.7585A>G	MT-TD	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
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: 36