"Mendelics"[submitter] AND "MT-ND1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9722	NC_012920.1:m.3460G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 1684907	NC_012920.1(MT-ND1):m.3472T>C	MT-ND1	Single nucleotide variant	not specified	GUncertain significance
Select item 65518	m.3635G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9733	m.3697G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9736	m.3733G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9734	m.3946G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GPathogenic/Likely pathogenic
Select item 1684908	NC_012920.1(MT-ND1):m.3995A>G	MT-ND1	Single nucleotide variant	not specified	GUncertain significance
Select item 9723	m.4160T>C	MT-ND1	Single nucleotide variant	Leber optic atrophy	GPathogenic
Select item 9732	m.4171C>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
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