MT-ND1 — 191 ClinVar variants
All ClinVar germline MT-ND1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Pathogenic · 10 Likely pathogenic · 4 Conflicting · 46 Benign · 13 Benign/Likely benign · 36 Likely benign · 80 Uncertain significance
Full MT-ND1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll MT-ND1 variants
Likely pathogenic 10
- m.3571del Expert panel mitochondrial disease
- m.3635G>A Expert panel mitochondrial disease
- m.3688G>A Expert panel mitochondrial disease
- m.3697G>A Expert panel mitochondrial disease
- m.3761C>A Expert panel mitochondrial disease
- m.3890G>A Expert panel mitochondrial disease
- m.3902_3908inv Expert panel mitochondrial disease
- m.3946G>A Expert panel mitochondrial disease
- m.3578T>G Single submitter Primary Mitochondrial Disorders
- m.3922G>T Single submitter mitochondrial complex I deficiency
Conflicting classifications of pathogenicity 4
Benign 46
- m.3316G>A Multiple submitters Leigh syndrome
- m.3337G>A Multiple submitters Leigh syndrome
- m.3388C>A Multiple submitters Leigh syndrome
- m.3391G>A Multiple submitters Leigh syndrome
- m.3398T>C Multiple submitters Leigh syndrome
- m.3399A>T Multiple submitters Leigh syndrome
- m.3421G>A Multiple submitters Leigh syndrome
- m.3513C>T Multiple submitters
- m.3523A>G Multiple submitters Leigh syndrome
- m.3547A>G Multiple submitters Leigh syndrome
- m.3552T>A Multiple submitters
- m.3796A>G Multiple submitters Leigh syndrome
- m.3865A>G Multiple submitters Leigh syndrome
- m.3866T>C Multiple submitters Leigh syndrome
- m.3892A>G Multiple submitters Leigh syndrome
- m.3915G>A Multiple submitters
- m.3921C>A Multiple submitters
- m.4012A>G Multiple submitters Leigh syndrome
- m.4025C>T Multiple submitters Leigh syndrome
- m.4123A>G Multiple submitters Leigh syndrome
- m.4136A>G Multiple submitters Leigh syndrome
- m.4158A>G Multiple submitters
- m.4216T>C Multiple submitters Leigh syndrome
- m.4232T>C Multiple submitters Leigh syndrome
- m.4248T>C Multiple submitters
- m.3335T>C Single submitter Leigh syndrome
- m.3349A>G Single submitter Leigh syndrome
- m.3350T>C Single submitter Leigh syndrome
- m.3397A>G Single submitter Leigh syndrome
- m.3497C>T Single submitter Leigh syndrome
- m.3511A>G Single submitter Leigh syndrome
- m.3520A>G Single submitter Leigh syndrome
- m.3535T>C Single submitter
- m.3571C>T Single submitter Leigh syndrome
- m.3592G>A Single submitter Leigh syndrome
- m.3593T>C Single submitter Leigh syndrome
- m.3693G>A Single submitter
- m.3736G>A Single submitter Leigh syndrome
- m.3746C>T Single submitter Leigh syndrome
- m.4013C>T Single submitter Leigh syndrome
- m.4021A>G Single submitter Leigh syndrome
- m.4048G>A Single submitter Leigh syndrome
- m.4079A>G Single submitter Leigh syndrome
- m.4129A>G Single submitter Leigh syndrome
- m.4172T>A Single submitter Leigh syndrome
- m.4225A>G Single submitter Leigh syndrome
Benign/Likely benign 13
- m.3308T>C Multiple submitters Leigh syndrome
- m.3338T>C Multiple submitters Leigh syndrome
- m.3434A>G Multiple submitters Leigh syndrome
- m.3447A>G Multiple submitters
- m.3505A>G Multiple submitters Leigh syndrome
- m.3745G>A Multiple submitters Leigh syndrome
- m.3796A>T Multiple submitters Leigh syndrome
- m.3849G>A Multiple submitters
- m.3990C>T Multiple submitters
- m.3992C>T Multiple submitters Leigh syndrome
- m.4024A>G Multiple submitters Leigh syndrome
- m.4093A>G Multiple submitters Leigh syndrome
- m.4219G>A Multiple submitters Leigh syndrome
Likely benign 36
- m.3340C>T Multiple submitters Leigh syndrome
- m.3396T>C Multiple submitters
- m.3498C>T Multiple submitters
- m.4205T>C Multiple submitters Leigh syndrome
- m.4218T>C Multiple submitters
- m.4226T>C Multiple submitters Leigh syndrome
- m.3308T>G Single submitter Leigh syndrome
- m.3344T>C Single submitter Leigh syndrome
- m.3368T>C Single submitter Leigh syndrome
- m.3385A>G Single submitter Leigh syndrome
- m.3480A>G Single submitter
- m.3492A>C Single submitter Leigh syndrome
- m.3504T>C Single submitter
- m.3533C>T Single submitter Leigh syndrome
- m.3535T>A Single submitter Leigh syndrome
- m.3555T>C Single submitter
- m.3618T>C Single submitter
- m.3628A>T Single submitter Leigh syndrome
- m.3640G>A Single submitter Leigh syndrome
- m.3644T>C Single submitter Leigh syndrome
- m.3669A>G Single submitter
- m.3720A>G Single submitter
- m.3808A>G Single submitter Leigh syndrome
- m.3826T>C Single submitter
- m.3843A>G Single submitter
- m.3943A>G Single submitter Leigh syndrome
- m.4023T>C Single submitter
- m.4029C>A Single submitter Leigh syndrome
- m.4058C>T Single submitter Leigh syndrome
- m.4084G>A Single submitter Leigh syndrome
- m.4137C>T Single submitter
- m.4167C>T Single submitter
- m.4231A>G Single submitter Leigh syndrome
- m.4234A>G Single submitter Leigh syndrome
- m.4242C>T Single submitter
- m.4243A>G Single submitter Leigh syndrome
Uncertain significance 80
- m.3357G>C Expert panel mitochondrial disease
- m.3376G>A Expert panel mitochondrial disease
- m.3380G>A Expert panel mitochondrial disease
- m.3394T>C Expert panel mitochondrial disease
- m.3481G>A Expert panel mitochondrial disease
- m.3502T>C Expert panel mitochondrial disease
- m.3685T>C Expert panel mitochondrial disease
- m.3700G>A Expert panel mitochondrial disease
- m.3733G>A Expert panel mitochondrial disease
- m.3734A>G Expert panel mitochondrial disease
- m.3949T>C Expert panel mitochondrial disease
- m.4132G>A Expert panel mitochondrial disease
- m.4142G>A Expert panel mitochondrial disease
- m.4160T>C Expert panel mitochondrial disease
- m.4171C>A Expert panel mitochondrial disease
- m.3526G>A Multiple submitters Leigh syndrome
- m.3670G>A Multiple submitters Leigh syndrome
- m.3887A>G Multiple submitters Leigh syndrome
- m.3907G>A Multiple submitters
- m.3995A>G Multiple submitters
- m.4238T>C Multiple submitters Leigh syndrome
- m.3307A>T Single submitter Leigh syndrome
- m.3308delinsAC Single submitter Leigh syndrome
- m.3310C>T Single submitter Leigh syndrome
- m.3313A>G Single submitter Leigh syndrome
- m.3316G>C Single submitter Leigh syndrome
- m.3320A>G Single submitter Leigh syndrome
- m.3328C>T Single submitter Leigh syndrome
- m.3358G>A Single submitter Leigh syndrome
- m.3395A>C Single submitter Leigh syndrome
- m.3419A>G Single submitter Leigh syndrome
- m.3427G>A Single submitter Leigh syndrome
- m.3461C>G Single submitter
- m.3472T>C Single submitter
- m.3488T>C Single submitter Leigh syndrome
- m.3496G>A Single submitter Leigh syndrome
- m.3508A>G Single submitter Leigh syndrome
- m.3509T>C Single submitter Leigh syndrome
- m.3553C>T Single submitter
- m.3569C>T Single submitter Leigh syndrome
- m.3578T>C Single submitter
- m.3582C>T Single submitter
- m.3607G>A Single submitter Leigh syndrome
- m.3622C>A Single submitter Leigh syndrome
- m.3624A>G Single submitter
- m.3643G>A Single submitter Leigh syndrome
- m.3652A>G Single submitter Leigh syndrome
- m.3653T>C Single submitter Leigh syndrome
- m.3661T>G Single submitter Leigh syndrome
- m.3701C>T Single submitter Leigh syndrome
- m.3709G>A Single submitter Leigh syndrome
- m.3710C>T Single submitter Leigh syndrome
- m.3712G>A Single submitter Leigh syndrome
- m.3713T>C Single submitter Leigh syndrome
- m.3715G>A Single submitter Leigh syndrome
- m.3749T>C Single submitter Leigh syndrome
- m.3751A>G Single submitter Leigh syndrome
- m.3764C>T Single submitter Leigh syndrome
- m.3772A>G Single submitter Leigh syndrome
- m.3775A>T Single submitter Leigh syndrome
- m.3793T>C Single submitter Leigh syndrome
- m.3910G>A Single submitter Leigh syndrome
- m.3918G>C Single submitter
- m.3928G>C Single submitter Leigh syndrome
- m.3937T>C Single submitter Leigh syndrome
- m.3955G>A Single submitter MELAS syndrome
- m.3991A>G Single submitter
- m.4055T>C Single submitter Leigh syndrome
- m.4082T>C Single submitter Leigh syndrome
- m.4094C>T Single submitter Leigh syndrome
- m.4105A>G Single submitter Leigh syndrome
- m.4148G>A Single submitter Leigh syndrome
- m.4153G>A Single submitter Leigh syndrome
- m.4165C>G Single submitter Leigh syndrome
- m.4180A>G Single submitter Leigh syndrome
- m.4181A>G Single submitter
- m.4193T>C Single submitter Leigh syndrome
- m.4211T>C Single submitter Leigh syndrome
- m.4247T>C Single submitter Leigh syndrome
- m.4258A>G Single submitter Leigh syndrome