4571[geneid] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870596	NC_012920.1(MT-TP):m.15958A>T	MT-TP	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9571	m.15965A>G	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9572	m.15967G>A	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 690261	NC_012920.1(MT-CYB):m.15968T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690262	NC_012920.1(MT-CYB):m.15970T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690263	NC_012920.1(MT-CYB):m.15976T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690264	NC_012920.1(MT-CYB):m.15977C>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690265	NC_012920.1(MT-CYB):m.15978C>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690266	NC_012920.1(MT-CYB):m.15983T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690267	NC_012920.1(MT-CYB):m.15984T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9570	NC_012920.1(MT-TP):m.15990C>T	MT-TP	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690268	NC_012920.1(MT-CYB):m.15992A>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690269	NC_012920.1(MT-CYB):m.15994A>G	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690270	NC_012920.1(MT-CYB):m.15995G>A	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690271	NC_012920.1(MT-CYB):m.16002T>C	MT-TP	Single nucleotide variant	MERRF syndrome +1 more	GPathogenic/Likely pathogenic
Select item 690272	NC_012920.1(MT-CYB):m.16003T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690273	NC_012920.1(MT-CYB):m.16011A>G	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690274	NC_012920.1(MT-CYB):m.16013A>G	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690276	NC_012920.1(MT-CYB):m.16018_16032dup	MT-TP	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690275	NC_012920.1(MT-CYB):m.16017T>C	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690277	NC_012920.1(MT-CYB):m.16021C>T	MT-TP	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684921	NC_012920.1(MT-TP):m.16023G>A	MT-TP	Single nucleotide variant	not specified	GUncertain significance

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Items: 22