4579[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 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 690009	NC_012920.1(MT-CYB):m.5836A>G	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690010	NC_012920.1(MT-CYB):m.5837G>A	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690011	NC_012920.1(MT-CYB):m.5839C>T	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690013	NC_012920.1(MT-CYB):m.5840C>T	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690012	NC_012920.1(MT-CYB):m.5840C>A	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690014	NC_012920.1(MT-CYB):m.5841T>C	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9553	m.5843A>G	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690015	NC_012920.1(MT-CYB):m.5846C>T	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690016	NC_012920.1(MT-CYB):m.5852T>C	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690017	NC_012920.1(MT-CYB):m.5855A>G	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690018	NC_012920.1(MT-CYB):m.5858T>C	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690019	NC_012920.1(MT-CYB):m.5864G>A	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690020	NC_012920.1(MT-CYB):m.5865T>C	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690021	NC_012920.1(MT-CYB):m.5867C>T	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 9550	m.5874T>C	MT-TY	Single nucleotide variant	Exercise intolerance and complex III deficiency, somatic	GPathogenic
Select item 690022	NC_012920.1(MT-CYB):m.5875C>T	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690023	NC_012920.1(MT-CYB):m.5876A>G	MT-TY	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 9552	m.5877C>T	MT-TY	Single nucleotide variant	Kearns-Sayre syndrome	GPathogenic
Select item 690024	NC_012920.1(MT-CYB):m.5885T>C	MT-TY	Single nucleotide variant	See cases +1 more	GUncertain significance
Select item 9551	m.5888delT	MT-TY	Deletion	Kearns-Sayre syndrome	GPathogenic
Select item 690025	NC_012920.1(MT-CYB):m.5889A>G	MT-TY	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: 25