"ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curat - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9628	NC_012920.1:m.1555A>G	MT-ND1, MT-RNR1	Single nucleotide variant	Mitochondrial disease +6 more	GPathogenic; drug response FDA Recognized database
Select item 692343	NC_012920.1(MT-ND1):m.3357G>C	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 65921	m.3376G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9722	NC_012920.1:m.3460G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
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 65519	m.3700G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9736	m.3733G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 155881	NC_012920.1:m.3890G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9731	NC_012920.1(MT-ND1):m.3902_3908inv	MT-ND1	Inversion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9732	m.4171C>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance 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