"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235783	NC_012920.1(MT-CO1):m.5951A>G	MT-CO1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 235696	NC_012920.1(MT-CO1):m.6071T>C	MT-CO1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 235378	NC_012920.1(MT-CO1):m.6120A>G	MT-CO1	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 235511	NC_012920.1(MT-CO1):m.6260G>A	MT-CO1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 235718	NC_012920.1(MT-CO1):m.6261G>A	MT-CO1	Single nucleotide variant	Leigh syndrome +1 more	GBenign/Likely benign
Select item 446007	NC_012920.1:m.6278T>C	MT-CO1	Single nucleotide variant	not provided	GLikely benign
Select item 377327	NC_012920.1:m.6299A>G	MT-CO1	Single nucleotide variant	not provided	GUncertain significance
Select item 235548	NC_012920.1:m.6554C>T	MT-CO1	Single nucleotide variant	not provided	GUncertain significance
Select item 376859	NC_012920.1:m.6674T>C	MT-CO1	Single nucleotide variant	not provided	GLikely benign
Select item 235489	NC_012920.1:m.6719T>C	MT-CO1	Single nucleotide variant	not provided	GLikely benign
Select item 235522	NC_012920.1(MT-CO1):m.6734G>A	MT-CO1	Single nucleotide variant	not provided	GBenign
Select item 235418	NC_012920.1(MT-CO1):m.7175T>C	MT-CO1	Single nucleotide variant	not provided	GBenign
Select item 445535	NC_012920.1:m.7220T>C	MT-CO1	Single nucleotide variant	not provided	GLikely benign
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