NC_012920.1:m.3460G>A |
single nucleotide variant |
Leber optic atrophy [RCV000010370]|Leigh syndrome [RCV000143998]|MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 [RCV000735416]|Mitochondrial disease [RCV003319165]|not provided [RCV000757484] |
ChrMT:3460 [GRCh38] ChrMT:3460 [GRCh37] |
pathogenic|not provided |
m.4160T>C |
single nucleotide variant |
Leber optic atrophy [RCV000010372] |
ChrMT:4160 [GRCh38] ChrMT:4160 [GRCh37] |
pathogenic |
m.4171C>A |
single nucleotide variant |
Leber optic atrophy [RCV000010384]|Mitochondrial disease [RCV002260596] |
ChrMT:4171 [GRCh38] ChrMT:4171 [GRCh37] |
pathogenic|likely pathogenic|uncertain significance |
m.3733G>A |
single nucleotide variant |
Leber optic atrophy [RCV000010389]|Mitochondrial disease [RCV002221475] |
ChrMT:3733 [GRCh38] ChrMT:3733 [GRCh37] |
pathogenic|uncertain significance |
NC_012920.1(MT-ND1):m.3902_3908inv |
inversion |
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 [RCV000010383]|Mitochondrial disease [RCV002260595] |
ChrMT:3902..3908 [GRCh38] ChrMT:3902..3908 [GRCh37] |
pathogenic|likely pathogenic |
m.4216T>C |
single nucleotide variant |
Leber optic atrophy [RCV000010373]|Leigh syndrome [RCV000853749]|not provided [RCV000709875] |
ChrMT:4216 [GRCh38] ChrMT:4216 [GRCh37] |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided |
m.3394T>C |
single nucleotide variant |
Leber optic atrophy [RCV000010375]|Leigh syndrome [RCV000853650]|not provided [RCV000507319] |
ChrMT:3394 [GRCh38] ChrMT:3394 [GRCh37] |
pathogenic|benign |
m.3397A>G |
single nucleotide variant |
Alzheimer disease [RCV000010376]|Leigh syndrome [RCV000853653]|Parkinson disease, late-onset [RCV000010377] |
ChrMT:3397 [GRCh38] ChrMT:3397 [GRCh37] |
pathogenic|benign |
m.4136A>G |
single nucleotide variant |
Leber optic atrophy [RCV000010378]|Leigh syndrome [RCV000853739] |
ChrMT:4136 [GRCh38] ChrMT:4136 [GRCh37] |
pathogenic|benign |
m.3308T>C |
single nucleotide variant |
Carcinoma of colon [RCV000010379]|Leigh syndrome [RCV000853627]|SUDDEN INFANT DEATH SYNDROME [RCV000010380]|not specified [RCV000239184] |
ChrMT:3308 [GRCh38] ChrMT:3308 [GRCh37] |
pathogenic|benign|likely benign |
m.3308T>G |
single nucleotide variant |
Leigh syndrome [RCV000853629]|SUDDEN INFANT DEATH SYNDROME [RCV000010381] |
ChrMT:3308 [GRCh38] ChrMT:3308 [GRCh37] |
pathogenic|likely benign |
m.3796A>G |
single nucleotide variant |
Dystonia, adult-onset [RCV000010382]|Leigh syndrome [RCV000853708]|not provided [RCV000992363] |
ChrMT:3796 [GRCh38] ChrMT:3796 [GRCh37] |
pathogenic|benign |
m.3697G>A |
single nucleotide variant |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010385]|Leber optic atrophy [RCV000056168]|Leber optic atrophy and dystonia [RCV000010386]|Migraine [RCV003298030]|Mitochondrial disease [RCV002221474] |
ChrMT:3697 [GRCh38] ChrMT:3697 [GRCh37] |
pathogenic|likely pathogenic |
m.3946G>A |
single nucleotide variant |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010387]|Leber optic atrophy [RCV001542704]|Leigh syndrome [RCV000853718] |
ChrMT:3946 [GRCh38] ChrMT:3946 [GRCh37] |
pathogenic|likely pathogenic |
m.3949T>C AND Juvenile myopathy, encephalopathy, lactic acidosis |
single nucleotide variant |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010388] |
ChrMT:3949 [GRCh38] ChrMT:3949 [GRCh37] |
pathogenic |
m.3388C>A |
single nucleotide variant |
Leigh syndrome [RCV000853648]|Mitochondrial non-syndromic sensorineural hearing loss [RCV000022892] |
ChrMT:3388 [GRCh38] ChrMT:3388 [GRCh37] |
pathogenic|benign |
m.3635G>A |
single nucleotide variant |
Leber optic atrophy [RCV000055707]|Mitochondrial disease [RCV002291214] |
ChrMT:3635 [GRCh38] ChrMT:3635 [GRCh37] |
pathogenic|likely pathogenic |
m.3700G>A |
single nucleotide variant |
Leber optic atrophy [RCV000055708]|Mitochondrial disease [RCV002221484]|Visual loss [RCV000415448] |
ChrMT:3700 [GRCh38] ChrMT:3700 [GRCh37] |
pathogenic|uncertain significance|not provided |
m.4025C>T |
single nucleotide variant |
Leber optic atrophy [RCV000055709]|Leigh syndrome [RCV000853724] |
ChrMT:4025 [GRCh38] ChrMT:4025 [GRCh37] |
pathogenic|benign|not provided |
m.3376G>A |
single nucleotide variant |
Leber optic atrophy [RCV000056167]|Mitochondrial disease [RCV002260605] |
ChrMT:3376 [GRCh38] ChrMT:3376 [GRCh37] |
pathogenic|uncertain significance|not provided |
NC_012920.1:m.3481G>A AND Juvenile myopathy, encephalopathy, lactic acidosis |
single nucleotide variant |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853660]|Leigh syndrome [RCV000143999] |
ChrMT:3481 [GRCh38] ChrMT:3481 [GRCh37] |
pathogenic|not provided |
NC_012920.1:m.3890G>A |
single nucleotide variant |
Leigh syndrome [RCV000144000]|Mitochondrial disease [RCV002260617]|not specified [RCV002285011] |
ChrMT:3890 [GRCh38] ChrMT:3890 [GRCh37] |
pathogenic|likely pathogenic|not provided |
NC_012920.1:m.3928G>C |
single nucleotide variant |
Leigh syndrome [RCV000144023] |
ChrMT:3928 [GRCh38] ChrMT:3928 [GRCh37] |
pathogenic|uncertain significance |
NC_012920.1:m.3843A>G |
single nucleotide variant |
not provided [RCV000224229] |
ChrMT:3843 [GRCh38] ChrMT:3843 [GRCh37] |
likely benign |
NC_012920.1:m.4023T>C |
single nucleotide variant |
not provided [RCV000224402] |
ChrMT:4023 [GRCh38] ChrMT:4023 [GRCh37] |
likely benign |
NC_012920.1:m.4218T>C |
single nucleotide variant |
not provided [RCV000224431] |
ChrMT:4218 [GRCh38] ChrMT:4218 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3447A>G |
single nucleotide variant |
not provided [RCV000224536] |
ChrMT:3447 [GRCh38] ChrMT:3447 [GRCh37] |
benign |
NC_012920.1:m.3396T>C |
single nucleotide variant |
not provided [RCV000224662] |
ChrMT:3396 [GRCh38] ChrMT:3396 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3990C>T |
single nucleotide variant |
not provided [RCV000224690] |
ChrMT:3990 [GRCh38] ChrMT:3990 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4219G>A |
single nucleotide variant |
Leigh syndrome [RCV000853750]|not provided [RCV000224714] |
ChrMT:4219 [GRCh38] ChrMT:4219 [GRCh37] |
benign|likely benign |
NC_012920.1:m.3582C>T |
single nucleotide variant |
not provided [RCV000224803] |
ChrMT:3582 [GRCh38] ChrMT:3582 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3796A>T |
single nucleotide variant |
Leigh syndrome [RCV000853709]|not provided [RCV000224953] |
ChrMT:3796 [GRCh38] ChrMT:3796 [GRCh37] |
benign|likely benign |
NC_012920.1(MT-ND1):m.3849G>A |
single nucleotide variant |
not provided [RCV000224955] |
ChrMT:3849 [GRCh38] ChrMT:3849 [GRCh37] |
benign|likely benign |
NC_012920.1:m.3918G>C |
single nucleotide variant |
not specified [RCV000223701] |
ChrMT:3918 [GRCh38] ChrMT:3918 [GRCh37] |
uncertain significance |
NC_012920.1:m.4135T>C |
single nucleotide variant |
Leigh syndrome [RCV000853738]|not specified [RCV000223794] |
ChrMT:4135 [GRCh38] ChrMT:4135 [GRCh37] |
benign|uncertain significance |
NC_012920.1:m.3548T>C |
single nucleotide variant |
Leigh syndrome [RCV000853676]|not specified [RCV000223756] |
ChrMT:3548 [GRCh38] ChrMT:3548 [GRCh37] |
benign|uncertain significance |
NC_012920.1:m.3907G>A |
single nucleotide variant |
not specified [RCV000223871] |
ChrMT:3907 [GRCh38] ChrMT:3907 [GRCh37] |
uncertain significance |
NC_012920.1:m.3991A>G |
single nucleotide variant |
not provided [RCV000757485] |
ChrMT:3991 [GRCh38] ChrMT:3991 [GRCh37] |
uncertain significance |
NC_012920.1:m.3505A>G |
single nucleotide variant |
Leigh syndrome [RCV000853666]|not provided [RCV000992358]|not specified [RCV000238711] |
ChrMT:3505 [GRCh38] ChrMT:3505 [GRCh37] |
benign |
NC_012920.1:m.3624A>G |
single nucleotide variant |
Global developmental delay [RCV000408941] |
ChrMT:3624 [GRCh38] ChrMT:3624 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4132G>A |
single nucleotide variant |
Leigh syndrome [RCV000853737]|not provided [RCV000426885] |
ChrMT:4132 [GRCh38] ChrMT:4132 [GRCh37] |
likely benign|uncertain significance |
NC_012920.1:m.3498C>T |
single nucleotide variant |
not provided [RCV000435868] |
ChrMT:3498 [GRCh38] ChrMT:3498 [GRCh37] |
likely benign |
NC_012920.1:m.4137C>T |
single nucleotide variant |
not provided [RCV000514068] |
ChrMT:4137 [GRCh38] ChrMT:4137 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3307A>T |
single nucleotide variant |
Leigh syndrome [RCV000853626] |
ChrMT:3307 [GRCh38] ChrMT:3307 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3320A>G |
single nucleotide variant |
Leigh syndrome [RCV000853634] |
ChrMT:3320 [GRCh38] ChrMT:3320 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3328C>T |
single nucleotide variant |
Leigh syndrome [RCV000853635] |
ChrMT:3328 [GRCh38] ChrMT:3328 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3350T>C |
single nucleotide variant |
Leigh syndrome [RCV000853642] |
ChrMT:3350 [GRCh38] ChrMT:3350 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3368T>C |
single nucleotide variant |
Leigh syndrome [RCV000853645] |
ChrMT:3368 [GRCh38] ChrMT:3368 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3380G>A AND Juvenile myopathy, encephalopathy, lactic acidosis |
single nucleotide variant |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853646] |
ChrMT:3380 [GRCh38] ChrMT:3380 [GRCh37] |
pathogenic |
NC_012920.1(MT-ND1):m.3399A>T |
single nucleotide variant |
Leigh syndrome [RCV000853655] |
ChrMT:3399 [GRCh38] ChrMT:3399 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3434A>G |
single nucleotide variant |
Leigh syndrome [RCV000853659] |
ChrMT:3434 [GRCh38] ChrMT:3434 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3492A>C |
single nucleotide variant |
Leigh syndrome [RCV000853662] |
ChrMT:3492 [GRCh38] ChrMT:3492 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3511A>G |
single nucleotide variant |
Leigh syndrome [RCV000853669] |
ChrMT:3511 [GRCh38] ChrMT:3511 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3523A>G |
single nucleotide variant |
Leigh syndrome [RCV000853671] |
ChrMT:3523 [GRCh38] ChrMT:3523 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3526G>A |
single nucleotide variant |
Leigh syndrome [RCV000853672] |
ChrMT:3526 [GRCh38] ChrMT:3526 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3569C>T |
single nucleotide variant |
Leigh syndrome [RCV000853678] |
ChrMT:3569 [GRCh38] ChrMT:3569 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3571C>T |
single nucleotide variant |
Leigh syndrome [RCV000853679] |
ChrMT:3571 [GRCh38] ChrMT:3571 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3622C>A |
single nucleotide variant |
Leigh syndrome [RCV000853684] |
ChrMT:3622 [GRCh38] ChrMT:3622 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3643G>A |
single nucleotide variant |
Leigh syndrome [RCV000853687] |
ChrMT:3643 [GRCh38] ChrMT:3643 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3652A>G |
single nucleotide variant |
Leigh syndrome [RCV000853689] |
ChrMT:3652 [GRCh38] ChrMT:3652 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3661T>G |
single nucleotide variant |
Leigh syndrome [RCV000853691] |
ChrMT:3661 [GRCh38] ChrMT:3661 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3670G>A |
single nucleotide variant |
Leigh syndrome [RCV000853692]|Ptosis [RCV000993795] |
ChrMT:3670 [GRCh38] ChrMT:3670 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3701C>T |
single nucleotide variant |
Leigh syndrome [RCV000853693] |
ChrMT:3701 [GRCh38] ChrMT:3701 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3736G>A |
single nucleotide variant |
Leigh syndrome [RCV000853699] |
ChrMT:3736 [GRCh38] ChrMT:3736 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3745G>A |
single nucleotide variant |
Leigh syndrome [RCV000853700] |
ChrMT:3745 [GRCh38] ChrMT:3745 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3749T>C |
single nucleotide variant |
Leigh syndrome [RCV000853702] |
ChrMT:3749 [GRCh38] ChrMT:3749 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3751A>G |
single nucleotide variant |
Leigh syndrome [RCV000853703] |
ChrMT:3751 [GRCh38] ChrMT:3751 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3775A>T |
single nucleotide variant |
Leigh syndrome [RCV000853706] |
ChrMT:3775 [GRCh38] ChrMT:3775 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3793T>C |
single nucleotide variant |
Leigh syndrome [RCV000853707] |
ChrMT:3793 [GRCh38] ChrMT:3793 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3887A>G |
single nucleotide variant |
Leigh syndrome [RCV000853713]|See cases [RCV001198276] |
ChrMT:3887 [GRCh38] ChrMT:3887 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3910G>A |
single nucleotide variant |
Leigh syndrome [RCV000853715] |
ChrMT:3910 [GRCh38] ChrMT:3910 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3937T>C |
single nucleotide variant |
Leigh syndrome [RCV000853716] |
ChrMT:3937 [GRCh38] ChrMT:3937 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4012A>G |
single nucleotide variant |
Leigh syndrome [RCV000853720] |
ChrMT:4012 [GRCh38] ChrMT:4012 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4013C>T |
single nucleotide variant |
Leigh syndrome [RCV000853721] |
ChrMT:4013 [GRCh38] ChrMT:4013 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4021A>G |
single nucleotide variant |
Leigh syndrome [RCV000853722] |
ChrMT:4021 [GRCh38] ChrMT:4021 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4024A>G |
single nucleotide variant |
Leigh syndrome [RCV000853723] |
ChrMT:4024 [GRCh38] ChrMT:4024 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4094C>T |
single nucleotide variant |
Leigh syndrome [RCV000853733] |
ChrMT:4094 [GRCh38] ChrMT:4094 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4165C>G |
single nucleotide variant |
Leigh syndrome [RCV000853743] |
ChrMT:4165 [GRCh38] ChrMT:4165 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4193T>C |
single nucleotide variant |
Leigh syndrome [RCV000853746] |
ChrMT:4193 [GRCh38] ChrMT:4193 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4226T>C |
single nucleotide variant |
Leigh syndrome [RCV000853752] |
ChrMT:4226 [GRCh38] ChrMT:4226 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3555T>C |
single nucleotide variant |
not provided [RCV000992362] |
ChrMT:3555 [GRCh38] ChrMT:3555 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3535T>C |
single nucleotide variant |
not provided [RCV000992360] |
ChrMT:3535 [GRCh38] ChrMT:3535 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3915G>A |
single nucleotide variant |
not provided [RCV000992364] |
ChrMT:3915 [GRCh38] ChrMT:3915 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4167C>T |
single nucleotide variant |
not provided [RCV000992367] |
ChrMT:4167 [GRCh38] ChrMT:4167 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4248T>C |
single nucleotide variant |
not provided [RCV000992369] |
ChrMT:4248 [GRCh38] ChrMT:4248 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4158A>G |
single nucleotide variant |
not provided [RCV000992366] |
ChrMT:4158 [GRCh38] ChrMT:4158 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3513C>T |
single nucleotide variant |
not provided [RCV000992359] |
ChrMT:3513 [GRCh38] ChrMT:3513 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3921C>A |
single nucleotide variant |
not provided [RCV000992365] |
ChrMT:3921 [GRCh38] ChrMT:3921 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3313A>G |
single nucleotide variant |
Leigh syndrome [RCV000853631] |
ChrMT:3313 [GRCh38] ChrMT:3313 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3340C>T |
single nucleotide variant |
Leigh syndrome [RCV000853639] |
ChrMT:3340 [GRCh38] ChrMT:3340 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3419A>G |
single nucleotide variant |
Leigh syndrome [RCV000853656] |
ChrMT:3419 [GRCh38] ChrMT:3419 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3496G>A |
single nucleotide variant |
Leigh syndrome [RCV000853663] |
ChrMT:3496 [GRCh38] ChrMT:3496 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3508A>G |
single nucleotide variant |
Leigh syndrome [RCV000853667] |
ChrMT:3508 [GRCh38] ChrMT:3508 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3628A>T |
single nucleotide variant |
Leigh syndrome [RCV000853685] |
ChrMT:3628 [GRCh38] ChrMT:3628 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3866T>C |
single nucleotide variant |
Leigh syndrome [RCV000853712] |
ChrMT:3866 [GRCh38] ChrMT:3866 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4055T>C |
single nucleotide variant |
Leigh syndrome [RCV000853727] |
ChrMT:4055 [GRCh38] ChrMT:4055 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4153G>A |
single nucleotide variant |
Leigh syndrome [RCV000853742] |
ChrMT:4153 [GRCh38] ChrMT:4153 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3308delinsAC |
indel |
Leigh syndrome [RCV000853628] |
ChrMT:3308 [GRCh38] ChrMT:3308 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3338T>C |
single nucleotide variant |
Leigh syndrome [RCV000853638] |
ChrMT:3338 [GRCh38] ChrMT:3338 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3391G>A |
single nucleotide variant |
Leigh syndrome [RCV000853649] |
ChrMT:3391 [GRCh38] ChrMT:3391 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3395A>G |
single nucleotide variant |
Leigh syndrome [RCV000853652] |
ChrMT:3395 [GRCh38] ChrMT:3395 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3427G>A |
single nucleotide variant |
Leigh syndrome [RCV000853658] |
ChrMT:3427 [GRCh38] ChrMT:3427 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3488T>C |
single nucleotide variant |
Leigh syndrome [RCV000853661] |
ChrMT:3488 [GRCh38] ChrMT:3488 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3502T>C AND Juvenile myopathy, encephalopathy, lactic acidosis |
single nucleotide variant |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV002252257]|Mitochondrial myopathy with reversible cytochrome C oxidase deficiency [RCV000853665] |
ChrMT:3502 [GRCh38] ChrMT:3502 [GRCh37] |
likely pathogenic |
NC_012920.1(MT-ND1):m.3547A>G |
single nucleotide variant |
Leigh syndrome [RCV000853675] |
ChrMT:3547 [GRCh38] ChrMT:3547 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3565A>G |
single nucleotide variant |
Leigh syndrome [RCV000853677] |
ChrMT:3565 [GRCh38] ChrMT:3565 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3592G>A |
single nucleotide variant |
Leigh syndrome [RCV000853681] |
ChrMT:3592 [GRCh38] ChrMT:3592 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3593T>C |
single nucleotide variant |
Leigh syndrome [RCV000853682] |
ChrMT:3593 [GRCh38] ChrMT:3593 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3607G>A |
single nucleotide variant |
Leigh syndrome [RCV000853683] |
ChrMT:3607 [GRCh38] ChrMT:3607 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3640G>A |
single nucleotide variant |
Leigh syndrome [RCV000853686] |
ChrMT:3640 [GRCh38] ChrMT:3640 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3764C>T |
single nucleotide variant |
Leigh syndrome [RCV000853704] |
ChrMT:3764 [GRCh38] ChrMT:3764 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3772A>G |
single nucleotide variant |
Leigh syndrome [RCV000853705] |
ChrMT:3772 [GRCh38] ChrMT:3772 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3892A>G |
single nucleotide variant |
Leigh syndrome [RCV000853714] |
ChrMT:3892 [GRCh38] ChrMT:3892 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3992C>T |
single nucleotide variant |
Leigh syndrome [RCV000853719] |
ChrMT:3992 [GRCh38] ChrMT:3992 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4048G>A |
single nucleotide variant |
Leigh syndrome [RCV000853726] |
ChrMT:4048 [GRCh38] ChrMT:4048 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4058C>T |
single nucleotide variant |
Leigh syndrome [RCV000853728] |
ChrMT:4058 [GRCh38] ChrMT:4058 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4105A>G |
single nucleotide variant |
Leigh syndrome [RCV000853734] |
ChrMT:4105 [GRCh38] ChrMT:4105 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4148G>A |
single nucleotide variant |
Leigh syndrome [RCV000853741] |
ChrMT:4148 [GRCh38] ChrMT:4148 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4234A>G |
single nucleotide variant |
Leigh syndrome [RCV000853755] |
ChrMT:4234 [GRCh38] ChrMT:4234 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3669A>G |
single nucleotide variant |
not specified [RCV001663784] |
ChrMT:3669 [GRCh38] ChrMT:3669 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3335T>C |
single nucleotide variant |
Leigh syndrome [RCV000853636] |
ChrMT:3335 [GRCh38] ChrMT:3335 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3344T>C |
single nucleotide variant |
Leigh syndrome [RCV000853640] |
ChrMT:3344 [GRCh38] ChrMT:3344 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3357G>C |
single nucleotide variant |
Leigh syndrome [RCV000853643]|Mitochondrial disease [RCV001796800]|not provided [RCV001249404] |
ChrMT:3357 [GRCh38] ChrMT:3357 [GRCh37] |
uncertain significance|not provided |
NC_012920.1(MT-ND1):m.3385A>G |
single nucleotide variant |
Leigh syndrome [RCV000853647] |
ChrMT:3385 [GRCh38] ChrMT:3385 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3398T>C |
single nucleotide variant |
Leigh syndrome [RCV000853654] |
ChrMT:3398 [GRCh38] ChrMT:3398 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3653T>C |
single nucleotide variant |
Leigh syndrome [RCV000853690] |
ChrMT:3653 [GRCh38] ChrMT:3653 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3715G>A |
single nucleotide variant |
Leigh syndrome [RCV000853698] |
ChrMT:3715 [GRCh38] ChrMT:3715 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4079A>G |
single nucleotide variant |
Leigh syndrome [RCV000853729] |
ChrMT:4079 [GRCh38] ChrMT:4079 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4084G>A |
single nucleotide variant |
Leigh syndrome [RCV000853731] |
ChrMT:4084 [GRCh38] ChrMT:4084 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4172T>A |
single nucleotide variant |
Leigh syndrome [RCV000853744] |
ChrMT:4172 [GRCh38] ChrMT:4172 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4205T>C |
single nucleotide variant |
Leigh syndrome [RCV000853747] |
ChrMT:4205 [GRCh38] ChrMT:4205 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4231A>G |
single nucleotide variant |
Leigh syndrome [RCV000853753] |
ChrMT:4231 [GRCh38] ChrMT:4231 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4247T>C |
single nucleotide variant |
Leigh syndrome [RCV000853758] |
ChrMT:4247 [GRCh38] ChrMT:4247 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4258A>G |
single nucleotide variant |
Leigh syndrome [RCV000853759] |
ChrMT:4258 [GRCh38] ChrMT:4258 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3316G>C |
single nucleotide variant |
Leigh syndrome [RCV000853632] |
ChrMT:3316 [GRCh38] ChrMT:3316 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3316G>A |
single nucleotide variant |
Leigh syndrome [RCV000853633] |
ChrMT:3316 [GRCh38] ChrMT:3316 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3337G>A |
single nucleotide variant |
Leigh syndrome [RCV000853637] |
ChrMT:3337 [GRCh38] ChrMT:3337 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3349A>G |
single nucleotide variant |
Leigh syndrome [RCV000853641] |
ChrMT:3349 [GRCh38] ChrMT:3349 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3358G>A |
single nucleotide variant |
Leigh syndrome [RCV000853644] |
ChrMT:3358 [GRCh38] ChrMT:3358 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3395A>C |
single nucleotide variant |
Leigh syndrome [RCV000853651] |
ChrMT:3395 [GRCh38] ChrMT:3395 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3421G>A |
single nucleotide variant |
Leigh syndrome [RCV000853657] |
ChrMT:3421 [GRCh38] ChrMT:3421 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3497C>T |
single nucleotide variant |
Leigh syndrome [RCV000853664] |
ChrMT:3497 [GRCh38] ChrMT:3497 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3509T>C |
single nucleotide variant |
Leigh syndrome [RCV000853668] |
ChrMT:3509 [GRCh38] ChrMT:3509 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3520A>G |
single nucleotide variant |
Leigh syndrome [RCV000853670] |
ChrMT:3520 [GRCh38] ChrMT:3520 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3533C>T |
single nucleotide variant |
Leigh syndrome [RCV000853673] |
ChrMT:3533 [GRCh38] ChrMT:3533 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3644T>C |
single nucleotide variant |
Leigh syndrome [RCV000853688] |
ChrMT:3644 [GRCh38] ChrMT:3644 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3746C>T |
single nucleotide variant |
Leigh syndrome [RCV000853701] |
ChrMT:3746 [GRCh38] ChrMT:3746 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3808A>G |
single nucleotide variant |
Leigh syndrome [RCV000853710] |
ChrMT:3808 [GRCh38] ChrMT:3808 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4029C>A |
single nucleotide variant |
Leigh syndrome [RCV000853725] |
ChrMT:4029 [GRCh38] ChrMT:4029 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4093A>G |
single nucleotide variant |
Leigh syndrome [RCV000853732] |
ChrMT:4093 [GRCh38] ChrMT:4093 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4123A>G |
single nucleotide variant |
Leigh syndrome [RCV000853735] |
ChrMT:4123 [GRCh38] ChrMT:4123 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4225A>G |
single nucleotide variant |
Leigh syndrome [RCV000853751] |
ChrMT:4225 [GRCh38] ChrMT:4225 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4238T>C |
single nucleotide variant |
Leigh syndrome [RCV000853756] |
ChrMT:4238 [GRCh38] ChrMT:4238 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3310C>T |
single nucleotide variant |
Leigh syndrome [RCV000853630] |
ChrMT:3310 [GRCh38] ChrMT:3310 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3535T>A |
single nucleotide variant |
Leigh syndrome [RCV000853674] |
ChrMT:3535 [GRCh38] ChrMT:3535 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3571del |
deletion |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency [RCV000853680] |
ChrMT:3566 [GRCh38] ChrMT:3566 [GRCh37] |
likely pathogenic |
NC_012920.1(MT-ND1):m.3709G>A |
single nucleotide variant |
Leigh syndrome [RCV000853694] |
ChrMT:3709 [GRCh38] ChrMT:3709 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3710C>T |
single nucleotide variant |
Leigh syndrome [RCV000853695] |
ChrMT:3710 [GRCh38] ChrMT:3710 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3712G>A |
single nucleotide variant |
Leigh syndrome [RCV000853696] |
ChrMT:3712 [GRCh38] ChrMT:3712 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3713T>C |
single nucleotide variant |
Leigh syndrome [RCV000853697] |
ChrMT:3713 [GRCh38] ChrMT:3713 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.3865A>G |
single nucleotide variant |
Leigh syndrome [RCV000853711] |
ChrMT:3865 [GRCh38] ChrMT:3865 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3943A>G |
single nucleotide variant |
Leigh syndrome [RCV000853717] |
ChrMT:3943 [GRCh38] ChrMT:3943 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.4082T>C |
single nucleotide variant |
Leigh syndrome [RCV000853730] |
ChrMT:4082 [GRCh38] ChrMT:4082 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4129A>G |
single nucleotide variant |
Leigh syndrome [RCV000853736] |
ChrMT:4129 [GRCh38] ChrMT:4129 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4142G>A AND Juvenile myopathy, encephalopathy, lactic acidosis |
single nucleotide variant |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853740] |
ChrMT:4142 [GRCh38] ChrMT:4142 [GRCh37] |
likely pathogenic |
NC_012920.1(MT-ND1):m.4180A>G |
single nucleotide variant |
Leigh syndrome [RCV000853745] |
ChrMT:4180 [GRCh38] ChrMT:4180 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4211T>C |
single nucleotide variant |
Leigh syndrome [RCV000853748] |
ChrMT:4211 [GRCh38] ChrMT:4211 [GRCh37] |
uncertain significance |
NC_012920.1(MT-ND1):m.4232T>C |
single nucleotide variant |
Leigh syndrome [RCV000853754] |
ChrMT:4232 [GRCh38] ChrMT:4232 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4243A>G |
single nucleotide variant |
Leigh syndrome [RCV000853757] |
ChrMT:4243 [GRCh38] ChrMT:4243 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3761C>A |
single nucleotide variant |
Mitochondrial disease [RCV000984483]|See cases [RCV003232165] |
ChrMT:3761 [GRCh38] ChrMT:3761 [GRCh37] |
pathogenic|likely pathogenic |
NC_012920.1(MT-ND1):m.3552T>A |
single nucleotide variant |
not provided [RCV000992361] |
ChrMT:3552 [GRCh38] ChrMT:3552 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.4242C>T |
single nucleotide variant |
not provided [RCV000992368] |
ChrMT:4242 [GRCh38] ChrMT:4242 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3693G>A |
single nucleotide variant |
not specified [RCV001663809] |
ChrMT:3693 [GRCh38] ChrMT:3693 [GRCh37] |
benign |
NC_012920.1(MT-ND1):m.3504T>C |
single nucleotide variant |
not provided [RCV001288249] |
ChrMT:3504 [GRCh38] ChrMT:3504 [GRCh37] |
likely benign |
NC_012920.1(MT-ND1):m.3472T>C |
single nucleotide variant |
not specified [RCV002247999] |
ChrMT:3472 [GRCh38] ChrMT:3472 [GRCh37] |
uncertain significance |
NC_012920.1:m.1555A>G |
single nucleotide variant |
Aminoglycoside-induced deafness [RCV000010254]|Aminoglycoside-induced deafness [RCV000505667]|Gentamicin response [RCV000722074]|Hearing loss, sensorineural, autosomal-mitochondrial type [RCV003445067]|Mitochondrial disease [RCV003153300]|Mitochondrial non-syndromic sensorineural hearing loss [RCV000010255]|Rare genetic deafness [RCV000844677]|Restrictive cardiomyopathy [RCV000010256]|amikacin response - Toxicity [RCV001787375]|aminoglycoside antibacterials response - Toxicity [RCV001787321]|gentamicin response - Toxicity [RCV001787374]|kanamycin response - Toxicity [RCV001787376]|not provided [RCV000224935]|streptomycin response - Toxicity [RCV001787377]|tobramycin response - Toxicity [RCV001787378] |
ChrMT:1555 [GRCh38] ChrMT:1555 [GRCh37] |
pathogenic|likely pathogenic|drug response |
NC_012920.1(MT-ND1):m.3685T>C |
single nucleotide variant |
Leigh syndrome [RCV001797044] |
ChrMT:3685 [GRCh38] ChrMT:3685 [GRCh37] |
likely pathogenic |
NC_012920.1(MT-ND1):m.3995A>G |
single nucleotide variant |
not specified [RCV002248000] |
ChrMT:3995 [GRCh38] ChrMT:3995 [GRCh37] |
uncertain significance |
NC_012920.1:m.8993T>G |
single nucleotide variant |
Cerebellar ataxia [RCV000191106]|Hypertelorism [RCV000414771]|Leber optic atrophy [RCV001542706]|Leigh syndrome [RCV000010273]|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 [RCV000754646]|Mitochondrial disease [RCV000495419]|NARP syndrome [RCV000010274]|Rod-cone dystrophy [RCV001376274]|not provided [RCV000224643]|not specified [RCV002285006] |
ChrMT:8993 [GRCh38] ChrMT:8993 [GRCh37] |
pathogenic|likely pathogenic |