C0751651[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5082	NM_130837.3(OPA1):c.2873_2876del	OPA1	Deletion (splice acceptor variant)	Autosomal dominant optic atrophy classic form +8 more	GPathogenic/Likely pathogenic
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG, POLGARF (W748S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +14 more	GConflicting classifications of pathogenicity
Select item 65665	NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	POLG, POLGARF (G517V)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	not provided +15 more	GConflicting classifications of pathogenicity
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more	GPathogenic/Likely pathogenic
Select item 9556	m.5521G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9579	NC_012920.1(MT-TK):m.8344A>G	MT-TK	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
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 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
Select item 9708	NC_012920.1(MT-ND4):m.11778G>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693440	NC_012920.1(MT-ND5):m.12425del	MT-ND5	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9702	NC_012920.1(MT-ND5):m.13513G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9688	NC_012920.1(MT-ND6):m.14484T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database