"Genomics England Pilot Project, Genomics England"[submitter] AND "MT- - ClinVar

	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 9645	NC_012920.1(MT-ATP6):m.8851T>C	MT-ATP6	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
Select item 9650	NC_012920.1(MT-ATP6):m.9176T>G	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9644	NC_012920.1(MT-ATP6):m.9176T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9647	NC_012920.1(MT-ATP6):m.9185T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

ClinVar