"OMIM"[submitter] AND "MT-CO1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9669	m.5920G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9667	m.6264G>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9672	m.6277G>A	MT-CO1	Single nucleotide variant	Familial colorectal cancer	GPathogenic
Select item 9671	m.6328C>T	MT-CO1	Single nucleotide variant	Cytochrome c oxidase I deficiency	GPathogenic
Select item 9666	m.6480G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease +1 more	GConflicting classifications of pathogenicity
Select item 9670	m.6489C>A	MT-CO1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9665	m.6721T>C	MT-CO1	Single nucleotide variant	Myelodysplastic syndrome with ring sideroblasts	GPathogenic
Select item 9664	m.6742T>C	MT-CO1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9668	m.6930G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9673	m.7275T>C	MT-CO1	Single nucleotide variant	Familial colorectal cancer	GPathogenic
Select item 9663	NC_012920.1:m.7444G>A	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9568	NC_012920.1(MT-TS1):m.7445A>C	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 9563	NC_012920.1(MT-TS1):m.7445A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database