ClinVar for MedGen (Select 182973) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501808	NC_012920.1(MT-CYB):m.15485C>T	MT-CYB	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +6 more	Gnot provided
Select item 2443068	NC_012920.1(MT-ND5):m.12923G>A	MT-ND5	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GLikely pathogenic
Select item 996128	NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly)	RP1 (E1459G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992950	NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp)	PRICKLE3 (R53W)	Single nucleotide variant (missense variant +1 more)	Leber optic atrophy	Grisk factor
Select item 693767	NC_012920.1(MT-CYB):m.14795T>C	MT-CYB	Single nucleotide variant	Leber optic atrophy +1 more	GUncertain significance
Select item 693604	NC_012920.1(MT-ND5):m.13763C>T	MT-ND5	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693516	NC_012920.1:m.13094T>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693513	NC_012920.1(MT-ND5):m.13063G>A	MT-ND5	Single nucleotide variant	Leber optic atrophy +1 more	GPathogenic/Likely pathogenic
Select item 693440	NC_012920.1(MT-ND5):m.12425del	MT-ND5	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 692983	NC_012920.1(MT-ATP6):m.8783G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome +1 more	GPathogenic/Likely pathogenic
Select item 690281	NC_012920.1(MT-ND6):m.14502T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 690280	NC_012920.1(MT-ATP6):m.9035T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 585120	NC_012920.1:m.8686T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 523304	NC_012920.1:m.11360A>G	MT-ND4	Single nucleotide variant	Leber optic atrophy +2 more	GUncertain significance
Select item 522715	NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)	NDUFS2 (A90T)	Single nucleotide variant (missense variant +1 more)	Leber optic atrophy	GLikely pathogenic
Select item 430689	NC_012920.1:m.13051G>A	MT-ND5	Single nucleotide variant	Leber optic atrophy	GPathogenic/Likely pathogenic
Select item 370052	NC_012920.1:m.9237G>A	MT-CO3	Single nucleotide variant	Leber optic atrophy	GPathogenic
Select item 370045	NC_012920.1:m.3275C>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 235525	NC_012920.1(MT-CYB):m.15437G>A	MT-CYB	Single nucleotide variant	Leigh syndrome +3 more	GUncertain significance
Select item 191364	NC_012920.1:m.8969G>A	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65921	m.3376G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 65520	m.4025C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65519	m.3700G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 65518	m.3635G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65517	m.14831G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65516	m.14279G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 65515	m.14568C>T	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65514	m.14498T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 65513	m.14482C>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65512	m.14325T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65511	m.13637A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65510	m.12811T>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 65509	m.11253T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65508	m.10237T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 29999	m.12338T>C	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9736	m.3733G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9734	m.3946G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GPathogenic/Likely pathogenic
Select item 9733	m.3697G>A	MT-ND1	Single nucleotide variant	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 9727	m.4136A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9725	m.3394T>C	MT-ND1	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9724	m.4216T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9723	m.4160T>C	MT-ND1	Single nucleotide variant	Leber optic atrophy	GPathogenic
Select item 9722	NC_012920.1:m.3460G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9718	m.4640C>A	MT-ND2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9717	m.5244G>A	MT-ND2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9716	m.4917A>G	MT-ND2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9711	m.11777C>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9710	m.11696G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9708	NC_012920.1:m.11778G>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9707	m.10663T>C	MT-ND4L	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9704	m.12848C>T	MT-ND5	Single nucleotide variant	Leber optic atrophy	GPathogenic
Select item 9703	m.13042G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9700	m.13045A>C	MT-ND5	Single nucleotide variant	Leigh syndrome due to mitochondrial complex I deficiency +2 more	GPathogenic
Select item 9698	m.12706T>C	MT-ND5 (F124L)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9697	m.13730G>A	MT-ND5	Single nucleotide variant	Leber optic atrophy	GPathogenic
Select item 9696	m.13708G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9694	m.14487T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9693	m.14482C>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9691	m.14495A>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9690	m.14596A>T	MT-ND6	Single nucleotide variant	Leber optic atrophy and dystonia	GPathogenic
Select item 9689	m.14459G>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9688	NC_012920.1:m.14484T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9683	m.15579A>G	MT-CYB	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9681	m.15150G>A	MT-CYB	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency +1 more	GPathogenic
Select item 9675	m.15812G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9674	m.15257G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9663	NC_012920.1:m.7444G>A	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9652	m.9804G>A	MT-CO3	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 9651	m.9438G>A	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9650	NC_012920.1:m.9176T>G	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9647	NC_012920.1:m.9185T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9646	NC_012920.1:m.9205_9206del	MT-ATP6, MT-CO3	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9645	NC_012920.1:m.8851T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9644	NC_012920.1:m.9176T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9643	m.9101T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9642	NC_012920.1:m.8993T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic 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

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Links from MedGen

Items: 78