4574[geneid] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9632	NC_012920.1(MT-ND1):m.1494C>T	MT-RNR1, MT-TS1	Single nucleotide variant	Mitochondrial disease +5 more	GLikely pathogenic; drug response FDA Recognized database
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
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 430674	NC_012920.1(MT-TS1):m.6005_11222del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
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 40158	NC_012920.1:m.7443A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
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 631469	NC_012920.1(MT-TS1):m.7445A>T	MT-TS1, MT-CO1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 9568	NC_012920.1(MT-TS1):m.7445A>C	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 9563	NC_012920.1(MT-TS1):m.7445A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 869395	NC_012920.1(MT-TS1):m.7453G>A	MT-TS1	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GPathogenic/Likely pathogenic
Select item 690026	NC_012920.1(MT-CYB):m.7460A>G	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 631470	NC_012920.1(MT-TS1):m.7462C>T	MT-TS1	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 42226	NC_012920.1(MT-TS1):m.7471dup	MT-TS1	Duplication	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 42227	NC_012920.1(MT-TS1):m.7471del	MT-TS1	Deletion	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 42224	NC_012920.1(MT-TS1):m.7468C>T	MT-TS1	Single nucleotide variant	not provided +1 more	GBenign
Select item 690027	NC_012920.1(MT-CYB):m.7469C>T	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690028	NC_012920.1(MT-CYB):m.7471C>A	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 42225	m.7471C>T	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more	GBenign/Likely benign
Select item 1684923	NC_012920.1(MT-TS1):m.7472A>C	MT-TS1	Single nucleotide variant	not specified	GUncertain significance
Select item 505297	NC_012920.1:m.7472A>T	MT-TS1	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 42228	m.7476C>T	MT-TS1	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 690029	NC_012920.1(MT-CYB):m.7478G>A	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690030	NC_012920.1(MT-CYB):m.7479G>A	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 374215	NC_012920.1(MT-TS1):m.7486G>A	MT-TS1	Single nucleotide variant	Progressive external ophthalmoplegia	GUncertain significance
Select item 690031	NC_012920.1(MT-CYB):m.7487C>T	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690032	NC_012920.1(MT-CYB):m.7490A>G	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 42229	m.7493C>T	MT-TS1	Single nucleotide variant	not specified +1 more	GBenign
Select item 370049	NC_012920.1:m.7496T>C	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9569	NC_012920.1(MT-TS1):m.7497G>A	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 42230	m.7498G>A	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more	GBenign
Select item 690033	NC_012920.1(MT-CYB):m.7499C>A	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684924	NC_012920.1(MT-TS1):m.7501T>A	MT-TS1	Single nucleotide variant	not specified	GUncertain significance
Select item 690034	NC_012920.1(MT-CYB):m.7501T>C	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 228859	NC_012920.1:m.7502C>T	MT-TS1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 40885	NC_012920.1(MT-TS1):m.7505T>C	MT-TS1	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 9565	m.7510T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9566	NC_012920.1(MT-TS1):m.7511T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9562	NC_012920.1(MT-TS1):m.7512T>C	MT-TS1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GPathogenic/Likely pathogenic
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

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Items: 42