C0162671[trait identifier] AND "3billion"[submitter] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206537	NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	POLG (R964C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +8 more	GConflicting classifications of pathogenicity
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Cerebral palsy +12 more	GPathogenic/Likely pathogenic
Select item 9703	NC_012920.1(MT-ND5):m.13042G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database

Format

Sort by

Choose Destination