C2931891[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21068	NM_000156.6(GAMT):c.626C>T (p.Thr209Met)	GAMT, NDUFS7 (T209M)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 9549	NC_012920.1(MT-ND1):m.1624C>T	MT-TV	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 155890	NC_012920.1(MT-ND1):m.1644G>T	MT-TV	Single nucleotide variant	Leigh syndrome	Gnot provided
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Cerebral palsy +12 more	GPathogenic/Likely pathogenic
Select item 9722	NC_012920.1(MT-ND1):m.3460G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 155880	NC_012920.1(MT-ND1):m.3481G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 155881	NC_012920.1(MT-ND1):m.3890G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155891	NC_012920.1(MT-ND1):m.3928G>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GPathogenic/Likely pathogenic
Select item 65520	NC_012920.1(MT-ND1):m.4025C>T	MT-ND1	Single nucleotide variant	not provided +1 more	GBenign
Select item 9724	NC_012920.1(MT-ND1):m.4216T>C	MT-ND1	Single nucleotide variant	not provided +1 more	GBenign
Select item 9718	NC_012920.1(MT-ND2):m.4640C>A	MT-ND2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9721	NC_012920.1(MT-ND2):m.4681T>C	MT-ND2	Single nucleotide variant	Leigh syndrome due to mitochondrial complex I deficiency	GPathogenic
Select item 155882	NC_012920.1(MT-TW):m.5523T>G	MT-TW	Single nucleotide variant	Leigh syndrome	Gnot provided
Select item 9555	NC_012920.1(MT-TW):m.5537_5538insT	MT-TW	Insertion	not provided	GPathogenic
Select item 155884	NC_012920.1(MT-TW):m.5559A>G	MT-TW	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9663	NC_012920.1(MT-CO1):m.7444G>A	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely benign 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 9581	NC_012920.1(MT-TK):m.8363G>A	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155892	NC_012920.1(MT-ATP6):m.8839G>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic
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 155893	NC_012920.1(MT-ATP6):m.8989G>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	Gnot provided
Select item 9642	NC_012920.1(MT-ATP6):m.8993T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic 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 9643	NC_012920.1(MT-ATP6):m.9101T>C	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
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
Select item 40153	NC_012920.1(MT-ATP6):m.9191T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155885	NC_012920.1(MT-CO3):m.9478T>C	MT-CO3	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 9656	NC_012920.1(MT-CO3):m.9537dup	MT-CO3	Duplication	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 9652	NC_012920.1(MT-CO3):m.9804G>A	MT-CO3	Single nucleotide variant	not specified +4 more	GConflicting classifications of pathogenicity
Select item 693252	NC_012920.1(MT-CO3):m.9957T>C	MT-CO3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9714	NC_012920.1(MT-ND3):m.10158T>C	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9712	NC_012920.1(MT-ND3):m.10191T>C	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9715	NC_012920.1(MT-ND3):m.10197G>A	MT-ND3	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 65508	NC_012920.1(MT-ND3):m.10237T>C	MT-ND3	Single nucleotide variant	Leigh syndrome	GBenign
Select item 155887	NC_012920.1(MT-ND3):m.10254G>A	MT-ND3	Single nucleotide variant	Leigh syndrome	Gnot provided
Select item 65509	NC_012920.1(MT-ND4):m.11253T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9710	NC_012920.1(MT-ND4):m.11696G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9711	NC_012920.1(MT-ND4):m.11777C>A	MT-ND4	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 155888	NC_012920.1(MT-ND4):m.11984T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9698	NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)	MT-ND5 (F124L)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65510	NC_012920.1(MT-ND5):m.12811T>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GBenign 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 155889	NC_012920.1(MT-ND5):m.13514A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 618218	NC_012920.1(MT-ND5):m.13528A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 65511	NC_012920.1(MT-ND5):m.13637A>G	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9696	NC_012920.1(MT-ND5):m.13708G>A	MT-ND5	Single nucleotide variant	Leigh syndrome	GBenign
Select item 65516	NC_012920.1(MT-ND6):m.14279G>A	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 65512	NC_012920.1(MT-ND6):m.14325T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9692	NC_012920.1(MT-ND6):m.14453G>A	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9689	NC_012920.1(MT-ND6):m.14459G>A	MT-ND5, MT-ND6	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
Select item 9694	NC_012920.1(MT-ND6):m.14487T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 65514	NC_012920.1(MT-ND6):m.14498T>C	MT-ND6	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 65517	NC_012920.1(MT-CYB):m.14831G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9674	NC_012920.1(MT-CYB):m.15257G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 155894	mitochondrial DNA deletion		Deletion	Leigh syndrome	GPathogenic

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Items: 59