4569[geneid] - ClinVar - NCBI

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Items: 17

	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 9578	NC_012920.1(MT-TM):m.4409T>C	MT-TM	Single nucleotide variant	Inborn mitochondrial myopathy	GPathogenic
Select item 689909	NC_012920.1(MT-CYB):m.4417A>G	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689910	NC_012920.1(MT-CYB):m.4418T>C	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689911	NC_012920.1(MT-CYB):m.4429G>A	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689912	NC_012920.1(MT-CYB):m.4435A>G	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689913	NC_012920.1(MT-CYB):m.4437C>T	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 986440	NC_012920.1(MT-TM):m.4450G>A	MT-TM	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689914	NC_012920.1(MT-CYB):m.4451T>G	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689915	NC_012920.1(MT-CYB):m.4452T>C	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689917	NC_012920.1(MT-CYB):m.4454T>A	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689916	NC_012920.1(MT-CYB):m.4454T>C	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689918	NC_012920.1(MT-CYB):m.4455A>G	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689919	NC_012920.1(MT-TM):m.4456C>T	MT-TM	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 689920	NC_012920.1(MT-CYB):m.4464G>A	MT-TM	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689921	NC_012920.1(MT-CYB):m.4466A>G	MT-TM	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