4575[geneid] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1(MT-TY):m.5782_13922del	MT-ND4, MT-ND4L +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1(MT-TY):m.5794_14876del	MT-ATP6, MT-ATP8 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1(MT-TS2):m.7129_13991del	MT-CO3, MT-ND3 +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1(MT-TS2):m.8290_13040del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638146	NC_012920.1(MT-TS2):m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 430681	NC_012920.1(MT-TS2):m.8587_12967del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430682	NC_012920.1(MT-TS2):m.8815_13722del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430683	NC_012920.1(MT-TS2):m.8839_14895del	MT-ND5, MT-ND6 +12 more	Deletion	Mitochondrial disease	GPathogenic
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 430684	NC_012920.1(MT-TS2):m.10106_15067del	MT-ND5, MT-ND6 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 3062020	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	not provided	GPathogenic
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 430685	NC_012920.1(MT-TS2):m.11263_15374del	MT-TE, MT-CYB +6 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430686	NC_012920.1(MT-TS2):m.12114_14420del	MT-ND4, MT-ND5 +4 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9561	m.12207G>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 690158	NC_012920.1(MT-CYB):m.12213G>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690159	NC_012920.1(MT-CYB):m.12215T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690160	NC_012920.1(MT-CYB):m.12216C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690161	NC_012920.1(MT-TS2):m.12217A>G	MT-TS2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690162	NC_012920.1(MT-CYB):m.12218C>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690163	NC_012920.1(MT-CYB):m.12223A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690164	NC_012920.1(MT-CYB):m.12230A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690165	NC_012920.1(MT-CYB):m.12231C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690166	NC_012920.1(MT-CYB):m.12234A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690167	NC_012920.1(MT-CYB):m.12235T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690170	NC_012920.1(MT-CYB):m.12241dup	MT-TS2	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 440357	NC_012920.1(MT-TS2):m.12236G>A	MT-TS2	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 690169	NC_012920.1(MT-CYB):m.12241del	MT-TS2	Deletion	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690168	NC_012920.1(MT-CYB):m.12237C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 235361	NC_012920.1(MT-CYB):m.12239C>T	MT-TS2	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 690171	NC_012920.1(MT-CYB):m.12245T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 1684925	NC_012920.1(MT-TS2):m.12246C>A	MT-TS2	Single nucleotide variant	not specified	GUncertain significance
Select item 690172	NC_012920.1(MT-CYB):m.12246C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690173	NC_012920.1(MT-CYB):m.12247T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690174	NC_012920.1(MT-CYB):m.12248A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690175	NC_012920.1(MT-CYB):m.12250C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690176	NC_012920.1(MT-CYB):m.12255T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690177	NC_012920.1(MT-CYB):m.12258C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 9560	m.12258C>A	MT-TS2	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690178	NC_012920.1(MT-CYB):m.12264C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 690179	NC_012920.1(MT-TS2):m.12265A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign

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Items: 44