"moi mitochondrial"[Properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520389	NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr)	SURF1 (N178Y +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome	GConflicting classifications of pathogenicity
Select item 978217	NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs)	CDKN1C (A213fs +1 more)	Indel (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 3066071	NC_012920.1(MT-CYB):m.73A>G		Single nucleotide variant	Venous thromboembolism	GAffects
Select item 1344497	NC_012920.1(MT-CYB):m.235A>G		Single nucleotide variant	Mitochondrial inheritance	GUncertain significance
Select item 1343827	NC_012920.1(MT-CYB):m.249del		Deletion	Mitochondrial inheritance	GUncertain significance
Select item 1344552	NC_012920.1(MT-CYB):m.515AC[4]		Microsatellite	Mitochondrial inheritance	GUncertain significance
Select item 9573	m.583G>A	MT-TF	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 870573	NC_012920.1(MT-CYB):m.590A>G	MT-TF	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 1177637	NC_012920.1(MT-CYB):m.591C>T	MT-TF	Single nucleotide variant	Nephropathy, chronic tubulointerstitial +2 more	GPathogenic/Likely pathogenic
Select item 9576	m.616T>C	MT-TF	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689830	NC_012920.1(MT-CYB):m.643A>G	MT-TF	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +3 more	GUncertain significance
Select item 441148	NC_012920.1(MT-CYB):m.750A>G	MT-RNR1	Single nucleotide variant	Venous thromboembolism	Gassociation not found
Select item 178943	NC_012920.1(MT-CYB):m.1027A>G	MT-RNR1	Single nucleotide variant	Rare genetic deafness	GLikely pathogenic
Select item 667034	NC_012920.1(MT-CYB):m.1106C>T	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 9632	NC_012920.1:m.1494C>T	MT-RNR1, MT-TS1	Single nucleotide variant	Mitochondrial disease +5 more	GLikely pathogenic; drug response FDA Recognized database
Select item 9628	NC_012920.1:m.1555A>G	MT-ND1, MT-RNR1	Single nucleotide variant	Mitochondrial disease +6 more	GPathogenic; drug response FDA Recognized database
Select item 9548	m.1606G>A	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689840	NC_012920.1(MT-CYB):m.1630A>G	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689846	NC_012920.1(MT-CYB):m.1644G>A	MT-TV	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 370043	NC_012920.1:m.1661A>G	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1344551	NC_012920.1(MT-ND1):m.1736A>G	MT-RNR2	Single nucleotide variant	Mitochondrial inheritance	GUncertain significance
Select item 689856	NC_012920.1(MT-CYB):m.3243A>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9589	NC_012920.1:m.3243A>G	MT-TL1	Single nucleotide variant	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 +12 more	GPathogenic/Likely pathogenic
Select item 9591	m.3256C>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986454	NC_012920.1(MT-TL1):m.3258T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9590	m.3271T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 986458	NC_012920.1(MT-TL1):m.3280A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 223247	NC_012920.1:m.3291T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689871	NC_012920.1(MT-CYB):m.3302A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9592	m.3303C>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 692343	NC_012920.1(MT-ND1):m.3357G>C	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 65921	m.3376G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9722	NC_012920.1:m.3460G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 692361	NC_012920.1(MT-ND1):m.3502T>C	MT-ND1	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency +1 more	GLikely pathogenic
Select item 65518	m.3635G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 1328561	NC_012920.1(MT-ND1):m.3685T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely pathogenic
Select item 9733	m.3697G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65519	m.3700G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9736	m.3733G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 155881	NC_012920.1:m.3890G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9731	NC_012920.1(MT-ND1):m.3902_3908inv	MT-ND1	Inversion	Mitochondrial disease	GLikely pathogenic 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 9732	m.4171C>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9604	m.4284G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9607	m.4291T>C	MT-TI	Single nucleotide variant	Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial	GPathogenic
Select item 689874	NC_012920.1(MT-CYB):m.4298G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9606	m.4300A>G	MT-TI	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689875	NC_012920.1(MT-CYB):m.4308G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689885	NC_012920.1(MT-CYB):m.4327T>C	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9616	m.4332G>A	MT-TQ	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 986440	NC_012920.1(MT-TM):m.4450G>A	MT-TM	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 1328512	NC_012920.1(MT-ND2):m.4735C>G	MT-ND2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 441150	NC_012920.1:m.4769A>G	MT-ND2	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 692523	NC_012920.1(MT-ND2):m.4935A>G	MT-ND2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9717	m.5244G>A	MT-ND2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692567	NC_012920.1(MT-ND2):m.5293G>A	MT-ND2	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9556	m.5521G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9555	m.5537_5538insT	MT-TW	Insertion	not provided	GPathogenic
Select item 689930	NC_012920.1(MT-CYB):m.5538G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689941	NC_012920.1(MT-CYB):m.5558A>G	MT-TW	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 162369	NC_012920.1:m.5631G>A	MT-TA	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9624	m.5650G>A	MT-TA	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689973	NC_012920.1(MT-CYB):m.5672T>C	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 986477	NC_012920.1(MT-TN):m.5690A>G	MT-TN	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9620	m.5703G>A	MT-TN	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9622	m.5728T>C	MT-TN	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 209212	NC_012920.1:m.5782_13922del8141	MT-TS2, MT-TY +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1:m.5794_14876del9083	MT-ATP6, MT-TL2 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 30001	m.5814T>C	MT-TC	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9669	m.5920G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 590893	NC_012920.1(MT-CO1):m.5954del	MT-CO1	Deletion	Tetralogy of Fallot	GPathogenic
Select item 590946	NC_012920.1(MT-CO1):m.6608del	MT-CO1	Deletion	Abnormal mitral valve physiology	GPathogenic
Select item 590947	NC_012920.1(MT-CO1):m.6674del	MT-CO1	Deletion	Abnormal mitral valve physiology	GLikely pathogenic
Select item 590996	NC_012920.1:m.6688_6689insACC	MT-CO1	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 590948	NC_012920.1(MT-CO1):m.6698del	MT-CO1	Deletion	Abnormal mitral valve physiology	GPathogenic
Select item 599214	NC_012920.1:m.6717_6718insGGG	MT-CO1	Insertion	Abnormal aortic valve physiology	GPathogenic
Select item 9664	m.6742T>C	MT-CO1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 590999	NC_012920.1:m.6743_6744insTGG	MT-CO1	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 599215	NC_012920.1(MT-CO1):m.6750del	MT-CO1	Deletion	Abnormal mitral valve physiology	GPathogenic
Select item 590895	NC_012920.1:m.6809_6810insAAG	MT-CO1	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 590890	NC_012920.1(MT-CO1):m.6817del	MT-CO1	Deletion	Abnormal aortic valve physiology	GPathogenic
Select item 590297	NC_012920.1(MT-CO1):m.6860del	MT-CO1	Deletion	Abnormal aortic valve physiology	GPathogenic
Select item 590898	NC_012920.1:m.6887_6888insGGG	MT-CO1	Insertion	Tetralogy of Fallot	GLikely pathogenic
Select item 590294	NC_012920.1(MT-CO1):m.6902del	MT-CO1	Deletion	Tetralogy of Fallot	GPathogenic
Select item 590897	NC_012920.1:m.6906_6907insCCT	MT-CO1	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 590295	NC_012920.1(MT-CO1):m.6927del	MT-CO1	Deletion	Abnormal aortic valve physiology +1 more	GPathogenic
Select item 9668	m.6930G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 590296	NC_012920.1(MT-CO1):m.6936del	MT-CO1	Deletion	Abnormal aortic valve physiology	GPathogenic
Select item 587690	NC_012920.1(MT-CO1):m.6941del	MT-CO1	Deletion	Tetralogy of Fallot	GPathogenic
Select item 692687	NC_012920.1(MT-CO1):m.6951G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 1676315	NC_012920.1(MT-CO1):m.7028C>T	MT-CO1	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 560166	NC_012920.1:m.7082C>A	MT-CO1	Single nucleotide variant	External ophthalmoplegia	GLikely benign
Select item 1328511	NC_012920.1(MT-CO1):m.7092T>C	MT-CO1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
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 9563	NC_012920.1: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	neonatal lactic acidosis +1 more	GPathogenic/Likely pathogenic
Select item 42226	NC_012920.1:m.7471dup	MT-TS1	Duplication	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 42228	m.7476C>T	MT-TS1	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 9569	m.7497G>A	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 228859	NC_012920.1:m.7502C>T	MT-TS1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database

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