4513[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 9658	NC_012920.1(MT-CO2):m.7587T>C	MT-CO2	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 692748	NC_012920.1(MT-CO2):m.7598G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692749	NC_012920.1(MT-CO2):m.7604G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 994646	NC_012920.1(MT-CO2):m.7606A>G	MT-CO2	Single nucleotide variant	not specified	GBenign
Select item 692750	NC_012920.1(MT-CO2):m.7608G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 1684905	NC_012920.1(MT-CO2):m.7623C>T	MT-CO2	Single nucleotide variant	not specified	GUncertain significance
Select item 805037	NC_012920.1(MT-CO2):m.7624T>A	MT-CO2	Single nucleotide variant	not provided	GBenign
Select item 692751	NC_012920.1(MT-CO2):m.7628C>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692752	NC_012920.1(MT-CO2):m.7632T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 439912	NC_012920.1(MT-CO2):m.7637G>A	MT-CO2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 587691	NC_012920.1(MT-CO2):m.7639del	MT-CO2	Deletion	Tetralogy of Fallot	GPathogenic
Select item 994647	NC_012920.1(MT-CO2):m.7645T>C	MT-CO2	Single nucleotide variant	not specified	GBenign
Select item 692753	NC_012920.1(MT-CO2):m.7649A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692754	NC_012920.1(MT-CO2):m.7650C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 590892	NC_012920.1:m.7661_7662insCCA	MT-CO2	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 692756	NC_012920.1(MT-CO2):m.7664G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692755	NC_012920.1(MT-CO2):m.7664G>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 590896	NC_012920.1:m.7668_7669insCCA	MT-CO2	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 9660	NC_012920.1(MT-CO2):m.7671T>A	MT-CO2	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 692757	NC_012920.1(MT-CO2):m.7673A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692758	NC_012920.1(MT-CO2):m.7674T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692759	NC_012920.1(MT-CO2):m.7679T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 590997	NC_012920.1:m.7680_7681insGTC	MT-CO2	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 692760	NC_012920.1(MT-CO2):m.7686T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692761	NC_012920.1(MT-CO2):m.7691T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692762	NC_012920.1(MT-CO2):m.7697G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692763	NC_012920.1(MT-CO2):m.7698T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692764	NC_012920.1(MT-CO2):m.7706G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692765	NC_012920.1(MT-CO2):m.7713T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692766	NC_012920.1(MT-CO2):m.7718A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692767	NC_012920.1(MT-CO2):m.7724A>T	MT-CO2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 430677	NC_012920.1(MT-TR):m.7731_11256del	MT-ATP6, MT-ATP8 +8 more	Deletion	Mitochondrial disease	GPathogenic
Select item 692768	NC_012920.1(MT-CO2):m.7746A>G	MT-CO2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692769	NC_012920.1(MT-CO2):m.7751T>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692770	NC_012920.1(MT-CO2):m.7754G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692771	NC_012920.1(MT-CO2):m.7757G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692772	NC_012920.1(MT-CO2):m.7761A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 805038	NC_012920.1(MT-CO2):m.7771A>G	MT-CO2	Single nucleotide variant	not provided	GBenign
Select item 692773	NC_012920.1(MT-CO2):m.7772A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692774	NC_012920.1(MT-CO2):m.7775G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692775	NC_012920.1(MT-CO2):m.7784A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692776	NC_012920.1(MT-CO2):m.7785T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 599024	NC_012920.1:m.7790_7791insTCC	MT-CO2	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 376897	NC_012920.1:m.7789G>A	MT-CO2	Single nucleotide variant	not provided	GBenign
Select item 692777	NC_012920.1(MT-CO2):m.7796A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692778	NC_012920.1(MT-CO2):m.7797T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692779	NC_012920.1(MT-CO2):m.7805G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692780	NC_012920.1(MT-CO2):m.7806T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692781	NC_012920.1(MT-CO2):m.7808C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692782	NC_012920.1(MT-CO2):m.7811A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692783	NC_012920.1(MT-CO2):m.7814G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 599025	NC_012920.1:m.7815_7816insCCC	MT-CO2	Duplication	Abnormal mitral valve physiology	GPathogenic
Select item 235379	NC_012920.1:m.7819C>A	MT-CO2	Single nucleotide variant	not provided	GLikely benign
Select item 692784	NC_012920.1(MT-CO2):m.7830G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692785	NC_012920.1(MT-CO2):m.7833T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692787	NC_012920.1(MT-CO2):m.7844A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692786	NC_012920.1(MT-CO2):m.7844A>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692788	NC_012920.1(MT-CO2):m.7853G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692789	NC_012920.1(MT-CO2):m.7854T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692790	NC_012920.1(MT-CO2):m.7859G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235521	NC_012920.1:m.7861T>C	MT-CO2	Single nucleotide variant	not provided	GLikely benign
Select item 235282	NC_012920.1:m.7867C>T	MT-CO2	Single nucleotide variant	not provided	GLikely benign
Select item 692791	NC_012920.1(MT-CO2):m.7868C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 805039	NC_012920.1(MT-CO2):m.7873C>T	MT-CO2	Single nucleotide variant	not provided	GBenign
Select item 692792	NC_012920.1(MT-CO2):m.7874A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9662	NC_012920.1(MT-CO2):m.7896G>A	MT-CO2	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 692793	NC_012920.1(MT-CO2):m.7898T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692794	NC_012920.1(MT-CO2):m.7904A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692795	NC_012920.1(MT-CO2):m.7919G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692796	NC_012920.1(MT-CO2):m.7922T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692797	NC_012920.1(MT-CO2):m.7925G>A	MT-CO2	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 692798	NC_012920.1(MT-CO2):m.7926G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 1802982	NC_012920.1(MT-CO2):m.7929G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692799	NC_012920.1(MT-CO2):m.7934A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692800	NC_012920.1(MT-CO2):m.7941A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692801	NC_012920.1(MT-CO2):m.7943T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 805040	NC_012920.1(MT-CO2):m.7954T>C	MT-CO2	Single nucleotide variant	not provided	GBenign
Select item 692802	NC_012920.1(MT-CO2):m.7962T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692803	NC_012920.1(MT-CO2):m.7964T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 440835	NC_012920.1(MT-CO2):m.7965T>C	MT-CO2	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 692804	NC_012920.1(MT-CO2):m.7976G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692805	NC_012920.1(MT-CO2):m.7980A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 430690	NC_012920.1:m.7989T>C	MT-CO2	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 692806	NC_012920.1(MT-CO2):m.8001A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9659	NC_012920.1(MT-CO2):m.8009G>A	MT-CO2	Single nucleotide variant	not specified	GBenign
Select item 692807	NC_012920.1(MT-CO2):m.8010T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692808	NC_012920.1(MT-CO2):m.8012G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692809	NC_012920.1(MT-CO2):m.8021A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692810	NC_012920.1(MT-CO2):m.8022T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692811	NC_012920.1(MT-CO2):m.8026A>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692812	NC_012920.1(MT-CO2):m.8027G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692813	NC_012920.1(MT-CO2):m.8030C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692814	NC_012920.1(MT-CO2):m.8033A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9661	NC_012920.1(MT-CO2):m.8043_8044del	MT-CO2	Deletion	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic

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