MT-ND4 — 150 ClinVar variants

All ClinVar germline MT-ND4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 47 Benign · 4 Benign/Likely benign · 34 Likely benign · 62 Uncertain significance

Full MT-ND4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All MT-ND4 variants

Pathogenic 1

m.11778G>A Expert panel mitochondrial disease

Likely pathogenic 1

m.11777C>A Expert panel mitochondrial disease

Conflicting classifications of pathogenicity 1

m.11232T>C Single submitter Leigh syndrome

Benign 47

m.11467A>G Expert panel mitochondrial disease
m.10845C>T Single submitter Leigh syndrome
m.10873T>C Single submitter
m.10895A>G Single submitter Leigh syndrome
m.10899A>G Single submitter Leigh syndrome
m.10907T>C Single submitter Leigh syndrome
m.10914G>A Single submitter Leigh syndrome
m.10920C>T Single submitter Leigh syndrome
m.10927T>C Single submitter
m.10978A>G Single submitter
m.11016G>A Single submitter Leigh syndrome
m.11025T>C Single submitter Leigh syndrome
m.11061C>T Single submitter Leigh syndrome
m.11084A>G Single submitter Leigh syndrome
m.11087T>C Single submitter Leigh syndrome
m.11089C>T Single submitter
m.11150G>A Single submitter Leigh syndrome
m.11151C>T Single submitter Leigh syndrome
m.11172A>G Single submitter Leigh syndrome
m.11177C>T Single submitter Leigh syndrome
m.11191C>T Single submitter
m.11204T>C Single submitter Leigh syndrome
m.11251A>G Single submitter
m.11252A>G Single submitter Leigh syndrome
m.11255T>C Single submitter Leigh syndrome
m.11337A>G Single submitter Leigh syndrome
m.11361T>C Single submitter Leigh syndrome
m.11447G>A Single submitter Leigh syndrome
m.11654A>G Single submitter Leigh syndrome
m.11696G>A Single submitter Leigh syndrome
m.11719G>A Single submitter venous thromboembolism
m.11812A>G Single submitter
m.11928A>G Single submitter Leigh syndrome
m.11944T>C Single submitter
m.11963G>A Single submitter Leigh syndrome
m.11969G>A Single submitter Leigh syndrome
m.11984T>C Single submitter Leigh syndrome
m.12020C>T Single submitter Leigh syndrome
m.12026A>G Single submitter Leigh syndrome
m.12030A>G Single submitter Leigh syndrome
m.12083T>G Single submitter Leigh syndrome
m.12084C>T Single submitter Leigh syndrome
m.12092C>A Single submitter Leigh syndrome
m.12092C>T Single submitter Leigh syndrome
m.12123C>T Single submitter Leigh syndrome
m.12135C>A Single submitter Leigh syndrome
m.12007G>A No assertion criteria venous thromboembolism

Benign/Likely benign 4

m.11253T>C Multiple submitters Leigh syndrome
m.11560A>G Multiple submitters
m.11899T>C Multiple submitters
m.12063C>T Multiple submitters Leigh syndrome

Likely benign 34

m.12014C>T Multiple submitters Leigh syndrome
m.10775G>A Single submitter Leigh syndrome
m.10798A>G Single submitter
m.10887A>G Single submitter Leigh syndrome
m.10915T>C Single submitter
m.11039C>T Single submitter Leigh syndrome
m.11129A>G Single submitter Leigh syndrome
m.11167A>G Single submitter
m.11268C>T Single submitter Leigh syndrome
m.11299T>C Single submitter
m.11318T>C Single submitter Leigh syndrome
m.11332C>T Single submitter
m.11377G>A Single submitter
m.11428C>T Single submitter
m.11453G>A Single submitter Leigh syndrome
m.11503C>A Single submitter
m.11549C>T Single submitter
m.11582A>G Single submitter Leigh syndrome
m.11665C>T Single submitter
m.11674C>T Single submitter
m.11708A>G Single submitter Leigh syndrome
m.11807A>G Single submitter Leigh syndrome
m.11914G>A Single submitter
m.11930A>G Single submitter Leigh syndrome
m.11946C>T Single submitter Leigh syndrome
m.11947A>G Single submitter
m.11957A>G Single submitter Leigh syndrome
m.12011T>C Single submitter Leigh syndrome
m.12015T>C Single submitter Seizure
m.12017A>G Single submitter Leigh syndrome
m.12033A>G Single submitter Leigh syndrome
m.12074A>C Single submitter Leigh syndrome
m.12127G>A Single submitter
m.12134T>C Single submitter Leigh syndrome

Uncertain significance 62

m.10931T>C Expert panel mitochondrial disease
m.11621_11622del Expert panel mitochondrial disease
m.11360A>G Multiple submitters Leigh syndrome
m.12054G>A Multiple submitters mitochondrial complex I deficiency
m.10776T>C Single submitter Leigh syndrome
m.10785T>C Single submitter Leigh syndrome
m.10791T>C Single submitter Leigh syndrome
m.10857T>C Single submitter Leigh syndrome
m.10863G>A Single submitter Leigh syndrome
m.10911G>A Single submitter Leigh syndrome
m.10913T>C Single submitter Leigh syndrome
m.10915T>G Single submitter Leigh syndrome
m.10922A>G Single submitter Leigh syndrome
m.10932C>T Single submitter Leigh syndrome
m.11004G>A Single submitter Leigh syndrome
m.11013C>A Single submitter Leigh syndrome
m.11016G>C Single submitter
m.11043A>G Single submitter Leigh syndrome
m.11069A>G Single submitter Leigh syndrome
m.11090A>G Single submitter Leigh syndrome
m.11111T>C Single submitter Leigh syndrome
m.11120T>C Single submitter Leigh syndrome
m.11139T>C Single submitter Leigh syndrome
m.11144A>T Single submitter Leigh syndrome
m.11157T>C Single submitter Leigh syndrome
m.11223T>C Single submitter Leigh syndrome
m.11246G>A Single submitter Leigh syndrome
m.11289T>C Single submitter Leigh syndrome
m.11301T>C Single submitter Leigh syndrome
m.11363G>A Single submitter Leigh syndrome
m.11393C>T Single submitter Leigh syndrome
m.11443A>C Single submitter Visual impairment
m.11498A>G Single submitter Leigh syndrome
m.11577G>A Single submitter Leigh syndrome
m.11583T>C Single submitter Leigh syndrome
m.11590A>G Single submitter
m.11615A>G Single submitter Leigh syndrome
m.11634G>A Single submitter Leigh syndrome
m.11711G>A Single submitter Leigh syndrome
m.11733T>C Single submitter Leigh syndrome
m.11781T>C Single submitter Leigh syndrome
m.11792T>G Single submitter Leigh syndrome
m.11825G>A Single submitter Leigh syndrome
m.11906G>A Single submitter Leigh syndrome
m.11913C>T Single submitter Leigh syndrome
m.11931T>C Single submitter Leigh syndrome
m.11964T>G Single submitter Leigh syndrome
m.11978T>A Single submitter Leigh syndrome
m.11981C>T Single submitter Leigh syndrome
m.11990T>C Single submitter Leigh syndrome
m.12011T>G Single submitter Leigh syndrome
m.12031C>A Single submitter Leigh syndrome
m.12040A>T Single submitter Leigh syndrome
m.12117T>C Single submitter Leigh syndrome
m.12122A>G Single submitter Leigh syndrome
m.12128T>C Single submitter Leigh syndrome
m.11038del No assertion criteria ependymoma
m.11815C>G No assertion criteria Hypotonia
m.11896C>G No assertion criteria peripheral neuropathy
m.12010C>T No assertion criteria dystonic disorder
m.12013A>G No assertion criteria Hypotonia
m.12018C>G No assertion criteria Hypotonia