DNM1 — 1039 ClinVar variants

All ClinVar germline DNM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 337 flagged for review →

28 Pathogenic · 9 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 48 Conflicting · 68 Benign · 26 Benign/Likely benign · 434 Likely benign · 394 Uncertain significance

Full DNM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 337

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DNM1 p.Gly771Ala Likely pathogenic Single submitter
DNM1 p.Met648Thr Likely pathogenic Single submitter
developmental and epileptic encephalopathy, 31A

Predictors agree, ClinVar conflicts 25

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DNM1 p.Arg15Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg228His Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg266Cys Conflicting Single submitter
Inborn genetic diseases
DNM1 p.Arg465Trp Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg67Cys Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg854His Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp726Glu Conflicting Single submitter
Inborn genetic diseases
DNM1 p.Gln448Pro Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu153Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu368Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu468Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 31B
DNM1 p.Glu604Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly139Arg Conflicting Single submitter
Inborn genetic diseases
DNM1 p.Gly139Glu Conflicting Single submitter
Inborn genetic diseases
DNM1 p.Gly202Arg Conflicting Single submitter
DNM1-related disorder
DNM1 p.Gly38Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly537Asp Conflicting Single submitter
Inborn genetic diseases
DNM1 p.Gly797Val Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile242Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile344Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile464Val Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro844Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro861His Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ser45Ile Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Val338Ile Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

DNM1 p.Arg256Ter Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg385Ter Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg421Ter Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg846Ter Conflicting Single submitter
developmental and epileptic encephalopathy, 31A

Predictors lean, ClinVar uncertain 226

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 226

DNM1 p.Ala785Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala808Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg199Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg217Cys Uncertain significance Multiple submitters
DNM1 p.Arg217His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg266Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg271Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DNM1 p.Arg297Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg297Trp Uncertain significance Multiple submitters
DNM1-related disorder
DNM1 p.Arg361His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg458Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg467Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DNM1 p.Arg573Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DNM1 p.Arg98Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn549Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn837Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp574Gly Uncertain significance Multiple submitters
DNM1-related disorder
DNM1 p.Glu310Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly532Arg Uncertain significance Multiple submitters
DNM1 p.Ile120Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile232Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile242Val Uncertain significance Multiple submitters
DNM1 p.Leu187Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Leu329Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro226Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DNM1 p.Pro319Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro32Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro802Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro825Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DNM1 p.Thr274Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Val118Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Val193Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Val234Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DNM1 p.Ala19Ser Uncertain significance Single submitter
DNM1 p.Ala216Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala250Gly Uncertain significance Single submitter
DNM1 p.Ala251Thr Uncertain significance Single submitter
DNM1 p.Ala323Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala35Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala618Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala623Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala703Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala722Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala787Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala799Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala808Thr Uncertain significance Single submitter
DNM1 p.Ala812Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala839Thr Uncertain significance Single submitter
DNM1 p.Ala850Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg107Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg123His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg157Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg15Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg228Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg229Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg343Cys Uncertain significance Single submitter
DNM1 p.Arg369Cys Uncertain significance Single submitter
DNM1 p.Arg385Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg451Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg451Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg453Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg453Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg458His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg467His Uncertain significance Single submitter
DNM1 p.Arg470Pro Uncertain significance Single submitter
DNM1 p.Arg4Cys Uncertain significance Single submitter
DNM1 p.Arg502Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg522Cys Uncertain significance Single submitter
DNM1 p.Arg522His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg522Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg59Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg601Gly Uncertain significance Single submitter
DNM1 p.Arg601Trp Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Arg629Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg663Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg724Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg724Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg725Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg783Cys Uncertain significance Single submitter
DNM1 p.Arg796Gln Uncertain significance Single submitter
DNM1 p.Arg846Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg859Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg98Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg98His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn282Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn363Thr Uncertain significance Single submitter
DNM1 p.Asn394His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn394Thr Uncertain significance Single submitter
DNM1 p.Asn529Lys Uncertain significance Single submitter
DNM1 p.Asn75Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn837Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn837Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp147Gly Uncertain significance Single submitter
DNM1 p.Asp151Val Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Asp194Asn Uncertain significance Single submitter
DNM1 p.Asp194Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp218Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp320Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp320His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp352Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp380Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp710His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Cys442Arg Uncertain significance Single submitter
DNM1 p.Gln303His Uncertain significance Single submitter
DNM1 p.Gln40Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gln447His Uncertain significance Single submitter
DNM1 p.Gln658Leu Uncertain significance Single submitter
DNM1 p.Gln711His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gln782Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gln831Leu Uncertain significance Single submitter
DNM1 p.Glu100Lys Uncertain significance Single submitter
DNM1 p.Glu341Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu383Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu466Asp Uncertain significance Single submitter
DNM1 p.Glu560Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu640Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu720Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu856Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu95Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly110Ala Uncertain significance Single submitter
DNM1 p.Gly197Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly202Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly230Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly24Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly295Trp Uncertain significance Single submitter
DNM1 p.Gly348Arg Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Gly401Glu Uncertain significance Single submitter
DNM1 p.Gly524Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly5Val Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Gly62Asp Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Gly631Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly797Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly848Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.His262Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.His288Arg Uncertain significance Single submitter
DNM1 p.His367Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.His396Tyr Uncertain significance Single submitter
DNM1 p.His490Asp Uncertain significance Single submitter
DNM1 p.His687Gln Uncertain significance Single submitter
DNM1 p.Ile201Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile232Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile23Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile307Val Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Ile34Leu Uncertain significance Single submitter
DNM1 p.Ile436Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile672Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Leu132Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Leu227Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Leu384Phe Uncertain significance Single submitter
DNM1 p.Leu702Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A

Predictors split 80

The independent predictors disagree with each other — read with care.

DNM1 p.Arg271His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg324Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Leu16Met Benign Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Met486Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro195Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro195Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro819Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Ser807Cys Benign/Likely benign Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Thr591Met Likely benign Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Tyr276Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Val575Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 31A
DNM1 p.Val70Leu Uncertain significance Multiple submitters
DNM1 p.Ala253Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala337Thr Uncertain significance Single submitter
DNM1 p.Ala497Val Uncertain significance Single submitter
DNM1 p.Ala719Gly Benign Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala719Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala719Val Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ala812Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg256Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg324His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg343His Likely benign Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg343Leu Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Arg364Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg470Cys Uncertain significance Single submitter
DNM1 p.Arg470His Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg784Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg784Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Arg854Cys Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Asn112Thr Uncertain significance Single submitter
DNM1 p.Asn316Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asn590Ser Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Asp136Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp147Glu Uncertain significance Single submitter
DNM1 p.Asp185Glu Uncertain significance Single submitter
DNM1 p.Asp247Asn Uncertain significance Single submitter
DNM1 p.Asp321Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Asp349Glu Benign Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Cys86Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gln196Arg Uncertain significance Single submitter
DNM1 p.Gln416Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu457Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu468Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu482Lys Uncertain significance Single submitter
DNM1 p.Glu638Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Glu640Lys Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Gly5Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Gly801Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.His733Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile307Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile459Val Benign Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ile481Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Lys245Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Lys472Arg Uncertain significance Single submitter
DNM1 p.Lys523Arg Likely benign Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Met332Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Met332Val Uncertain significance Single submitter
DNM1 p.Met377Ile Uncertain significance Single submitter
DNM1 p.Met456Ile Uncertain significance Single submitter
DNM1 p.Met670Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Met681Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Met689Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Phe379Leu Uncertain significance Single submitter
DNM1 p.Phe647Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro117Arg Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Pro117Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro275Leu Likely benign Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro753Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31B
DNM1 p.Pro786Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro816His Uncertain significance Single submitter
Inborn genetic diseases
DNM1 p.Pro819Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Pro829Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ser179Cys Uncertain significance Single submitter
DNM1 p.Ser834Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Ser845Gly Uncertain significance Single submitter
DNM1 p.Thr404Ala Uncertain significance Single submitter
DNM1 p.Thr747Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Thr752Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A
DNM1 p.Val567Leu Uncertain significance Single submitter
intellectual disability
DNM1 p.Val677Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 31A

All DNM1 variants

Pathogenic 28

p.Arg237Trp Multiple submitters DNM1-related disorders
p.Gln284Ter Multiple submitters developmental and epileptic encephalopathy
p.Gly139Val Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gly359Arg Multiple submitters Inborn genetic diseases
p.Gly397Asp Multiple submitters Inborn genetic diseases
c.590-2A>G Single submitter infantile spasms
p.Ala812fs Single submitter developmental and epileptic encephalopathy, 31A
p.Arg256fs Single submitter developmental and epileptic encephalopathy, 31A
p.Arg66Pro Single submitter developmental and epileptic encephalopathy, 31A
p.Asn363_Arg364insLeuPro Single submitter developmental and epileptic encephalopathy, 31A
p.Asn394Ser Single submitter
p.Asp180Ala Single submitter developmental and epileptic encephalopathy, 31A
p.Gln441Ter Single submitter developmental and epileptic encephalopathy, 31A
p.Gln766Ter Single submitter developmental and epileptic encephalopathy, 31A
p.Gly139Ala Single submitter developmental and epileptic encephalopathy, 31A
p.Gly346Ser Single submitter developmental and epileptic encephalopathy, 31A
p.Gly346Val Single submitter
p.Gly43Asp Single submitter developmental and epileptic encephalopathy, 31A
p.Lys206Asn Single submitter developmental and epileptic encephalopathy, 31A
p.Ser238Ile Single submitter Inborn genetic diseases
p.Ser767fs Single submitter developmental and epileptic encephalopathy, 31A
p.Thr65Asn Single submitter developmental and epileptic encephalopathy
p.Trp542fs Single submitter developmental and epileptic encephalopathy, 31A
p.Val174Met Single submitter
p.Ala177Pro No assertion criteria developmental and epileptic encephalopathy, 31A
p.Gln33Ter No assertion criteria developmental and epileptic encephalopathy, 31B
p.Ile289Phe No assertion criteria developmental and epileptic encephalopathy, 31A
p.Pro117fs No assertion criteria developmental and epileptic encephalopathy, 31B

Pathogenic/Likely pathogenic 9

c.1335+1638G>A Multiple submitters developmental and epileptic encephalopathy, 31A
p.Arg399Ter Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asp211Val Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gln148Arg Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gly359Ala Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gly43Ser Multiple submitters Inborn genetic diseases
p.Leu285Gln Multiple submitters Seizure
p.Ser45Asn Multiple submitters Inborn genetic diseases
p.Val47Met Multiple submitters stereotypic movement disorder

Likely pathogenic 32

p.Arg361Gly Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gln148Lys Multiple submitters developmental and epileptic encephalopathy, 31A
c.1197-1G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1423-1G>T Single submitter developmental and epileptic encephalopathy, 31A
c.236-2A>C Single submitter developmental and epileptic encephalopathy, 31A
p.Ala182Asp Single submitter
p.Arg237Gly Single submitter DNM1-related disorders
p.Arg364Ter Single submitter DNM1-related disorders
p.Asn394Asp Single submitter
p.Asp215Tyr Single submitter DNM1-related disorders
p.Glu576Lys Single submitter developmental and epileptic encephalopathy, 31A
p.Gly139_Thr141del Single submitter developmental and epileptic encephalopathy, 31A
p.Gly346Asp Single submitter
p.Gly358Trp Single submitter
p.Gly359Glu Single submitter developmental and epileptic encephalopathy, 31A
p.Gly536Glu Single submitter
p.Gly60Glu Single submitter DNM1-related disorder
p.Gly771Ala Single submitter ⚠
p.Ile392Met Single submitter DNM1-related disorders
p.Leu356Arg Single submitter
p.Leu526Pro Single submitter developmental and epileptic encephalopathy, 31A
p.Leu69fs Single submitter developmental and epileptic encephalopathy, 31A
p.Lys44Arg Single submitter developmental and epileptic encephalopathy, 31A
p.Lys44Asn Single submitter
p.Lys535Glu Single submitter
p.Lys539Glu Single submitter developmental and epileptic encephalopathy, 31A
p.Met648Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Pro144Leu Single submitter developmental and epileptic encephalopathy, 31A
p.Pro682Arg Single submitter developmental and epileptic encephalopathy, 31A
p.Pro790fs Single submitter developmental and epileptic encephalopathy, 31A
p.Tyr390Ser Single submitter
p.Gln155_Ile156insMet No assertion criteria developmental and epileptic encephalopathy, 31A

Conflicting classifications of pathogenicity 48

c.1422+3G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1423-8C>A Single submitter developmental and epileptic encephalopathy, 31A
c.1558-3C>T Single submitter Inborn genetic diseases
c.1781+4C>A Single submitter developmental and epileptic encephalopathy, 31A
c.849+6C>T Single submitter Inborn genetic diseases
c.993-6C>T Single submitter developmental and epileptic encephalopathy, 31A
p.Ala253Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala719Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg15Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg228His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg256Ter Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg266Cys Single submitter Inborn genetic diseases ⚠
p.Arg385Ter Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg421Ter Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg453= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg453Gln Single submitter developmental and epileptic encephalopathy, 31A
p.Arg465Trp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg470His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg67Cys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg846Ter Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg854His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp726Glu Single submitter Inborn genetic diseases ⚠
p.Gln448Pro Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu153Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu368Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu444Lys Single submitter
p.Glu457Asp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu468Lys Single submitter developmental and epileptic encephalopathy, 31B ⚠
p.Glu604Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly139Arg Single submitter Inborn genetic diseases ⚠
p.Gly139Glu Single submitter Inborn genetic diseases ⚠
p.Gly202Arg Single submitter DNM1-related disorder ⚠
p.Gly38Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly537Asp Single submitter Inborn genetic diseases ⚠
p.Gly797Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly88Ala Single submitter Inborn genetic diseases
p.Ile242Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile307Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile344Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile464Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Lys240del Single submitter developmental and epileptic encephalopathy, 31A
p.Met670Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Pro844Arg Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Pro861His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ser45Ile Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ser822= Single submitter developmental and epileptic encephalopathy, 31A
p.Val338Ile Single submitter Inborn genetic diseases ⚠
p.Val375= Single submitter developmental and epileptic encephalopathy, 31A

Benign 68

c.1335+1947C>A Multiple submitters
c.1335+1948C>T Multiple submitters
c.1336-231G>A Multiple submitters
c.1422+189T>C Multiple submitters
c.1423-32G>C Multiple submitters
c.1545+27G>A Multiple submitters
c.162-106G>A Multiple submitters
c.1782-144GA[4] Multiple submitters
c.1782-265T>A Multiple submitters
c.1906-136A>G Multiple submitters
c.2077-138T>C Multiple submitters
c.2535-1604G>T Multiple submitters
c.2535-1654G>A Multiple submitters
c.385+135T>A Multiple submitters
c.385+54C>T Multiple submitters
c.386-14G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.689-44C>T Multiple submitters
c.850-46C>A Multiple submitters
p.Asp28= Multiple submitters Inborn genetic diseases
p.Leu16Met Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Phe336= Multiple submitters Inborn genetic diseases
p.Tyr354= Multiple submitters Inborn genetic diseases
c.1129-9del Single submitter developmental and epileptic encephalopathy, 31A
c.1196+4C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1335+1493C>T Single submitter
c.1336-7T>A Single submitter developmental and epileptic encephalopathy, 31A
c.1422+292A>G Single submitter
c.1422+6C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1423-?_1671+?del Single submitter
c.1493+53GT[19] Single submitter
c.1493+53GT[21] Single submitter
c.1493+53GT[22] Single submitter
c.1493+53GT[23] Single submitter
c.1493+53GT[24] Single submitter
c.1493+53GT[26] Single submitter
c.1557+192G>A Single submitter
c.1557+224C>T Single submitter
c.1557+439G>A Single submitter
c.1558-315A>G Single submitter
c.1671+241C>T Single submitter
c.1671+242C>T Single submitter
c.1672-194A>G Single submitter
c.1781+216T>C Single submitter
c.1781+217T>C Single submitter
c.2076+142T>C Single submitter
c.2076+168G>A Single submitter
c.2076+23del Single submitter developmental and epileptic encephalopathy, 31A
c.2318+10C>T Single submitter developmental and epileptic encephalopathy, 31A
c.589+135G>C Single submitter
c.992+13C>T Single submitter developmental and epileptic encephalopathy, 31A
c.-17C>A Single submitter
p.Ala250Thr Single submitter developmental and epileptic encephalopathy, 31A
p.Ala719Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala787Val Single submitter developmental and epileptic encephalopathy, 31A
p.Arg629His Single submitter developmental and epileptic encephalopathy, 31A
p.Asp349Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly2= Single submitter developmental and epileptic encephalopathy, 31A
p.Ile459Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Lys444Glu Single submitter developmental and epileptic encephalopathy, 31A
p.Lys554= Single submitter developmental and epileptic encephalopathy, 31A
p.Met476Thr Single submitter developmental and epileptic encephalopathy, 31A
p.Pro275= Single submitter developmental and epileptic encephalopathy, 31A
p.Pro823Ala Single submitter developmental and epileptic encephalopathy, 31A
p.Pro823Ser Single submitter developmental and epileptic encephalopathy, 31A
p.Pro861Arg Single submitter developmental and epileptic encephalopathy, 31A
p.Ser433Leu Single submitter developmental and epileptic encephalopathy, 31A
p.Val375Ile Single submitter developmental and epileptic encephalopathy, 31A
p.Val630Ala Single submitter developmental and epileptic encephalopathy, 31A

Benign/Likely benign 26

c.1128+11C>G Multiple submitters developmental and epileptic encephalopathy, 31A
c.1128+4G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.1197-7C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1493+14del Multiple submitters developmental and epileptic encephalopathy, 31A
c.1782-9A>G Multiple submitters developmental and epileptic encephalopathy, 31A
c.1894-18G>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1905+17C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1906-17T>C Multiple submitters developmental and epileptic encephalopathy, 31A
c.1906-6T>C Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asn569= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asp158= Multiple submitters Inborn genetic diseases
p.Asp645Asn Multiple submitters developmental and epileptic encephalopathy, 31A
p.Glu104= Multiple submitters Inborn genetic diseases
p.Gly810Val Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ile479= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Leu181= Multiple submitters Inborn genetic diseases
p.Leu588= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Lys87= Multiple submitters Inborn genetic diseases
p.Pro138= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Pro150= Multiple submitters Inborn genetic diseases
p.Ser807Cys Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Ser847Leu Multiple submitters developmental and epileptic encephalopathy, 31A
p.Thr111Ser Multiple submitters developmental and epileptic encephalopathy, 31A
p.Thr249= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Thr400= Multiple submitters Inborn genetic diseases
p.Val439Ile Multiple submitters Inborn genetic diseases

Likely benign 434

Showing the top 300 by review status; the full set is in the sitemap.

c.1196+14C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1197-15G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.1335+13C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1335+16G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.1335+7C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1335+8G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.1335+93G>T Multiple submitters
c.1422+16C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1422+18C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1422+7C>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.1422+9C>G Multiple submitters
c.1422+9C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1423-14A>G Multiple submitters developmental and epileptic encephalopathy, 31A
c.1493+16G>C Multiple submitters developmental and epileptic encephalopathy, 31A
c.1493+17G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.1558-14C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1558-17G>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.161+11C>G Multiple submitters developmental and epileptic encephalopathy, 31A
c.162-17C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.1672-148C>G Multiple submitters
c.1781+66G>C Multiple submitters
c.1782-186G>A Multiple submitters
c.1893+12G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.1893+9C>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.2319-5C>G Multiple submitters developmental and epileptic encephalopathy, 31A
c.235+10C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.2535-117C>T Multiple submitters
c.2535-91G>A Multiple submitters
c.386-17C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.850-17C>G Multiple submitters developmental and epileptic encephalopathy, 31A
c.850-18C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.850-23C>G Multiple submitters
c.992+13C>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.992+17T>C Multiple submitters developmental and epileptic encephalopathy, 31A
c.-15G>T Multiple submitters
p.Arg502= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asn529Ser Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asn746= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asn75Ser Multiple submitters Inborn genetic diseases
p.Asp211= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asp574= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asp645= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Glu212= Multiple submitters Inborn genetic diseases
p.Glu387= Multiple submitters Inborn genetic diseases
p.Glu640= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gly38= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gly39= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ile351= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ile392= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ile585= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ile742= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Leu29= Multiple submitters Inborn genetic diseases
p.Leu452= Multiple submitters Inborn genetic diseases
p.Leu705= Multiple submitters Inborn genetic diseases
p.Lys382= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Lys508= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Lys539= Multiple submitters Inborn genetic diseases
p.Phe372= Multiple submitters Inborn genetic diseases
p.Phe620= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Phe862= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Pro176= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Pro294= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Pro423= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ser264= Multiple submitters Inborn genetic diseases
p.Ser581= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Thr274= Multiple submitters Inborn genetic diseases
p.Thr292= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Thr462= Multiple submitters Inborn genetic diseases
p.Thr591Met Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Val234= Multiple submitters Inborn genetic diseases
p.Val788= Multiple submitters developmental and epileptic encephalopathy, 31A
c.1128+12A>C Single submitter developmental and epileptic encephalopathy, 31A
c.1129-14G>A Single submitter
c.1129-16C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1129-18C>A Single submitter developmental and epileptic encephalopathy, 31A
c.1196+14C>A Single submitter developmental and epileptic encephalopathy, 31A
c.1196+16T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1196+17G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1196+7A>C Single submitter developmental and epileptic encephalopathy, 31A
c.1196+7A>T Single submitter developmental and epileptic encephalopathy, 31A
c.1196+8T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1197-11C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1197-14C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1197-16C>G Single submitter developmental and epileptic encephalopathy, 31A
c.1197-16C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1197-182C>A Single submitter
c.1197-20C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1197-330C>T Single submitter
c.1197-4T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1197-6G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1335+14C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1335+15C>G Single submitter developmental and epileptic encephalopathy, 31A
c.1335+15C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1335+1634C>T Single submitter
c.1335+16G>T Single submitter developmental and epileptic encephalopathy, 31A
c.1335+1795C>T Single submitter
c.1335+1796G>A Single submitter
c.1335+7C>G Single submitter developmental and epileptic encephalopathy, 31A
c.1336-11C>A Single submitter
c.1336-15_1336-8del Single submitter developmental and epileptic encephalopathy, 31A
c.1336-15C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1336-18C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1336-6C>G Single submitter developmental and epileptic encephalopathy, 31A
c.1336-6C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1336-7T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1422+10G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1422+13G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1422+19G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1422+19G>T Single submitter developmental and epileptic encephalopathy, 31A
c.1422+6_1422+83dup Single submitter developmental and epileptic encephalopathy, 31A
c.1422+8C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1423-155G>A Single submitter
c.1423-16C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1423-16del Single submitter developmental and epileptic encephalopathy, 31A
c.1423-17C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1423-18A>T Single submitter developmental and epileptic encephalopathy, 31A
c.1494-10C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1494-11C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1494-15C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1494-5A>G Single submitter developmental and epileptic encephalopathy, 31A
c.1545+18C>A Single submitter developmental and epileptic encephalopathy, 31A
c.1557+11G>A Single submitter
c.1557+16G>A Single submitter
c.1557+17G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1557+1G>C Single submitter developmental and epileptic encephalopathy, 31A
c.1557+267T>C Single submitter
c.1558-13C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1558-16C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1558-20_1558-18del Single submitter
c.1558-272G>T Single submitter
c.161+14G>A Single submitter developmental and epileptic encephalopathy, 31A
c.161+164G>C Single submitter
c.161+308C>T Single submitter
c.161+8C>T Single submitter developmental and epileptic encephalopathy, 31A
c.162-7A>C Single submitter developmental and epileptic encephalopathy, 31A
c.162-8C>T Single submitter developmental and epileptic encephalopathy, 31A
c.162-9T>G Single submitter developmental and epileptic encephalopathy, 31A
c.1671+11G>C Single submitter developmental and epileptic encephalopathy, 31A
c.1671+20T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1671+7C>G Single submitter developmental and epileptic encephalopathy, 31A
c.1671+7C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1672-15T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1672-19C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1672-269G>A Single submitter
c.1672-7C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1781+11G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1781+16del Single submitter developmental and epileptic encephalopathy, 31A
c.1781+18G>C Single submitter developmental and epileptic encephalopathy, 31A
c.1781+9C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1782-13C>G Single submitter developmental and epileptic encephalopathy, 31A
c.1782-13C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1782-17C>A Single submitter developmental and epileptic encephalopathy, 31A
c.1782-8T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1893+16A>C Single submitter
c.1893+209G>C Single submitter
c.1893+7G>T Single submitter developmental and epileptic encephalopathy, 31A
c.1894-10G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1894-5C>G Single submitter developmental and epileptic encephalopathy, 31A
c.1894-8C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1905+133C>G Single submitter
c.1905+222C>T Single submitter
c.1905+9G>T Single submitter developmental and epileptic encephalopathy, 31A
c.1906-12T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1906-156A>G Single submitter
c.1906-20C>T Single submitter developmental and epileptic encephalopathy, 31A
c.2076+107G>A Single submitter
c.2076+17A>G Single submitter developmental and epileptic encephalopathy, 31A
c.2077-11C>G Single submitter developmental and epileptic encephalopathy, 31A
c.2077-13dup Single submitter developmental and epileptic encephalopathy, 31A
c.2077-16C>T Single submitter developmental and epileptic encephalopathy, 31A
c.2077-256_2077-255del Single submitter
c.2077-279_2077-278insG Single submitter
c.2077-5C>G Single submitter developmental and epileptic encephalopathy, 31A
c.2077-8A>G Single submitter developmental and epileptic encephalopathy, 31A
c.2318+11C>T Single submitter developmental and epileptic encephalopathy, 31A
c.2318+14C>A Single submitter developmental and epileptic encephalopathy, 31A
c.2318+17C>T Single submitter developmental and epileptic encephalopathy, 31A
c.2318+7G>C Single submitter developmental and epileptic encephalopathy, 31A
c.2319-18G>C Single submitter developmental and epileptic encephalopathy, 31A
c.2319-20T>C Single submitter developmental and epileptic encephalopathy, 31A
c.2319-20T>G Single submitter developmental and epileptic encephalopathy, 31A
c.2319-5C>T Single submitter developmental and epileptic encephalopathy, 31A
c.2319-8G>A Single submitter developmental and epileptic encephalopathy, 31A
c.2319-9C>T Single submitter developmental and epileptic encephalopathy, 31A
c.235+18C>T Single submitter developmental and epileptic encephalopathy, 31A
c.235+9C>T Single submitter developmental and epileptic encephalopathy, 31A
c.236-17G>T Single submitter developmental and epileptic encephalopathy, 31A
c.2534+11G>A Single submitter developmental and epileptic encephalopathy, 31A
c.2534+7A>G Single submitter developmental and epileptic encephalopathy, 31A
c.2535-116G>C Single submitter
c.2535-17T>C Single submitter developmental and epileptic encephalopathy, 31A
c.2535-194C>T Single submitter
c.2535-20_2535-14del Single submitter developmental and epileptic encephalopathy, 31A
c.2535-20G>C Single submitter developmental and epileptic encephalopathy, 31A
c.2535-608C>T Single submitter
c.385+11T>C Single submitter developmental and epileptic encephalopathy, 31A
c.385+18G>A Single submitter developmental and epileptic encephalopathy, 31A
c.385+18G>C Single submitter developmental and epileptic encephalopathy, 31A
c.385+8C>T Single submitter developmental and epileptic encephalopathy, 31A
c.386-19C>G Single submitter developmental and epileptic encephalopathy, 31A
c.386-4C>G Single submitter developmental and epileptic encephalopathy, 31A
c.386-7T>C Single submitter developmental and epileptic encephalopathy, 31A
c.589+11A>G Single submitter developmental and epileptic encephalopathy, 31A
c.589+14C>G Single submitter developmental and epileptic encephalopathy, 31A
c.589+15G>A Single submitter developmental and epileptic encephalopathy, 31A
c.589+19G>A Single submitter developmental and epileptic encephalopathy, 31A
c.589+8C>T Single submitter developmental and epileptic encephalopathy, 31A
c.688+11C>T Single submitter developmental and epileptic encephalopathy, 31A
c.688+12A>G Single submitter
c.688+13T>C Single submitter developmental and epileptic encephalopathy, 31A
c.688+16C>A Single submitter developmental and epileptic encephalopathy, 31A
c.688+16C>G Single submitter developmental and epileptic encephalopathy, 31A
c.688+17C>T Single submitter developmental and epileptic encephalopathy, 31A
c.688+18C>G Single submitter developmental and epileptic encephalopathy, 31A
c.688+18C>T Single submitter developmental and epileptic encephalopathy, 31A
c.688+19T>G Single submitter
c.689-11A>T Single submitter developmental and epileptic encephalopathy, 31A
c.689-7T>C Single submitter developmental and epileptic encephalopathy, 31A
c.689-8G>T Single submitter developmental and epileptic encephalopathy, 31A
c.849+10C>A Single submitter developmental and epileptic encephalopathy, 31A
c.849+7G>A Single submitter developmental and epileptic encephalopathy, 31A
c.849+95T>G Single submitter
c.850-8A>G Single submitter developmental and epileptic encephalopathy, 31A
c.992+15G>A Single submitter
c.992+18C>T Single submitter developmental and epileptic encephalopathy, 31A
c.992+19C>T Single submitter developmental and epileptic encephalopathy, 31A
c.992+9C>T Single submitter
c.993-10C>G Single submitter developmental and epileptic encephalopathy, 31A
c.993-17C>T Single submitter developmental and epileptic encephalopathy, 31A
c.993-19C>G Single submitter developmental and epileptic encephalopathy, 31A
c.-13G>A Single submitter
c.-27T>G Single submitter
c.-33G>A Single submitter
c.-35C>T Single submitter
c.*19C>T Single submitter
p.Ala173= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala19= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala250= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala251= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala269= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala27= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala337= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala587= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala719= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala770= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala787= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala81= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala812= Single submitter developmental and epileptic encephalopathy, 31A
p.Ala850= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg157= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg266His Single submitter developmental and epileptic encephalopathy, 31A
p.Arg297= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg318= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg343His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg369= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg385= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg421Gln Single submitter developmental and epileptic encephalopathy, 31A
p.Arg467= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg522= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg657= Single submitter developmental and epileptic encephalopathy, 31A
p.Arg663= Single submitter
p.Arg724= Single submitter
p.Arg730= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn183= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn222= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn363= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn394= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn487= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn50= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn504= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn507= Single submitter developmental and epileptic encephalopathy, 31A
p.Asn674= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp18= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp208= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp215Glu Single submitter
p.Asp215Val Single submitter developmental and epileptic encephalopathy, 31A
p.Asp241= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp243= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp247= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp380= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp555= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp652= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp726= Single submitter developmental and epileptic encephalopathy, 31A
p.Asp744= Single submitter Inborn genetic diseases
p.Asp863= Single submitter developmental and epileptic encephalopathy, 31A
p.Cys169= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln25= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln303= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln335= Single submitter
p.Gln448= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln602= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln711= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln72= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln721= Single submitter developmental and epileptic encephalopathy, 31A
p.Glu102Lys Single submitter developmental and epileptic encephalopathy, 31A
p.Glu153= Single submitter
p.Glu308= Single submitter developmental and epileptic encephalopathy, 31A
p.Glu310= Single submitter developmental and epileptic encephalopathy, 31A
p.Glu341= Single submitter Inborn genetic diseases
p.Glu345= Single submitter developmental and epileptic encephalopathy, 31A

Uncertain significance 394

Showing the top 300 by review status; the full set is in the sitemap.

c.1335+1605G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.2076+4C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.2076+5G>A Multiple submitters developmental and epileptic encephalopathy, 31A
c.386-8C>T Multiple submitters developmental and epileptic encephalopathy, 31A
c.589+4G>T Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ala785Val Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Ala808Val Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg199Cys Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg217Cys Multiple submitters ⚠
p.Arg217His Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg266Ser Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg271Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg271His Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg297Gln Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg297Trp Multiple submitters DNM1-related disorder ⚠
p.Arg318Cys Multiple submitters developmental and epileptic encephalopathy, 31A
p.Arg324Cys Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg361His Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg458Cys Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Arg467Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg573Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg98Cys Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Asn549Ser Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Asn837Thr Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Asp429Gly Multiple submitters developmental and epileptic encephalopathy, 31A
p.Asp574Gly Multiple submitters DNM1-related disorder ⚠
p.Glu310Gly Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Gly532Arg Multiple submitters ⚠
p.Gly624= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Gly631Arg Multiple submitters developmental and epileptic encephalopathy, 31A
p.Ile120Val Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Ile232Thr Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Ile242Val Multiple submitters ⚠
p.Leu187Pro Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Leu329Val Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Leu519= Multiple submitters developmental and epileptic encephalopathy, 31A
p.Met486Thr Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Pro195Leu Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Pro195Thr Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Pro226Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro319Leu Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Pro32Leu Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Pro802Leu Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Pro819Ser Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Pro825Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr274Met Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Tyr276Cys Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Val118Met Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Val193Ala Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Val234Gly Multiple submitters Inborn genetic diseases ⚠
p.Val575Met Multiple submitters developmental and epileptic encephalopathy, 31A ⚠
p.Val70Leu Multiple submitters ⚠
c.1196+10G>A Single submitter
c.1196+5G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1196+6T>A Single submitter developmental and epileptic encephalopathy, 31A
c.1197-10G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1197-1G>T Single submitter
c.1197-7C>A Single submitter developmental and epileptic encephalopathy, 31A
c.1335+1G>C Single submitter
c.1336-7T>G Single submitter developmental and epileptic encephalopathy, 31A
c.1422+5del Single submitter developmental and epileptic encephalopathy, 31A
c.1493+20A>G Single submitter developmental and epileptic encephalopathy, 31A
c.1493+3G>C Single submitter developmental and epileptic encephalopathy, 31A
c.1493+4A>T Single submitter
c.1493+5G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1493+7G>A Single submitter developmental and epileptic encephalopathy, 31A
c.1545+6T>C Single submitter developmental and epileptic encephalopathy, 31A
c.1558-8C>G Single submitter
c.1558-8C>T Single submitter
c.161+5_161+6delinsTT Single submitter developmental and epileptic encephalopathy, 31A
c.161+9_161+10delinsTT Single submitter developmental and epileptic encephalopathy, 31A
c.162-11A>G Single submitter developmental and epileptic encephalopathy, 31A
c.1781+4C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1781+5C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1782-3C>T Single submitter developmental and epileptic encephalopathy, 31A
c.1905+3G>A Single submitter
c.1906-3C>T Single submitter developmental and epileptic encephalopathy, 31A
c.2318+3dup Single submitter developmental and epileptic encephalopathy, 31A
c.2319-2A>T Single submitter developmental and epileptic encephalopathy, 31A
c.2534+1dup Single submitter developmental and epileptic encephalopathy, 31A
c.2534+2T>G Single submitter
c.2535-1540G>A Single submitter
c.2535-1G>A Single submitter developmental and epileptic encephalopathy, 31A
c.2535-2A>G Single submitter Inborn genetic diseases
c.2535-613C>T Single submitter developmental and epileptic encephalopathy, 31A
c.2535-652C>T Single submitter
c.385+6G>A Single submitter developmental and epileptic encephalopathy, 31A
c.386-12C>A Single submitter
c.386-6G>C Single submitter
c.386-9C>G Single submitter developmental and epileptic encephalopathy, 31A
c.589+4G>A Single submitter developmental and epileptic encephalopathy, 31A
c.688+3A>G Single submitter developmental and epileptic encephalopathy, 31A
c.849+3A>G Single submitter
c.849+5G>A Single submitter
c.992+3G>A Single submitter developmental and epileptic encephalopathy, 31A
c.993-13_993-11del Single submitter developmental and epileptic encephalopathy, 31A
c.*6T>A Single submitter
p.Ala103= Single submitter
p.Ala19Ser Single submitter ⚠
p.Ala216Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala250Gly Single submitter ⚠
p.Ala251Thr Single submitter ⚠
p.Ala323Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala337Thr Single submitter ⚠
p.Ala35Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala497Val Single submitter ⚠
p.Ala618Pro Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala623fs Single submitter
p.Ala623Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala703Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala719fs Single submitter
p.Ala719Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala722Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala787Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala799Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala808Thr Single submitter ⚠
p.Ala812Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala812Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ala839Thr Single submitter ⚠
p.Ala850Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg107Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg123His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg157Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg15Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg228Cys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg229Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg256Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg324His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg343Cys Single submitter ⚠
p.Arg343Leu Single submitter Inborn genetic diseases ⚠
p.Arg364Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg369Cys Single submitter ⚠
p.Arg385Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg451Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg451Trp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg453Leu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg453Trp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg458His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg467His Single submitter ⚠
p.Arg470Cys Single submitter ⚠
p.Arg470Pro Single submitter ⚠
p.Arg4Cys Single submitter ⚠
p.Arg4His Single submitter developmental and epileptic encephalopathy, 31A
p.Arg502Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg522Cys Single submitter ⚠
p.Arg522His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg522Pro Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg59Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg601Gly Single submitter ⚠
p.Arg601Trp Single submitter Inborn genetic diseases ⚠
p.Arg629Cys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg663Trp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg678_Thr684delinsSer Single submitter developmental and epileptic encephalopathy, 31A
p.Arg724Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg724Trp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg725Cys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg783Cys Single submitter ⚠
p.Arg784Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg784Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg792fs Single submitter developmental and epileptic encephalopathy, 31A
p.Arg796Gln Single submitter ⚠
p.Arg846Leu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg846Pro Single submitter developmental and epileptic encephalopathy, 31A
p.Arg854Cys Single submitter Inborn genetic diseases ⚠
p.Arg859Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg98Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Arg98His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asn112Thr Single submitter ⚠
p.Asn282Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asn316Asp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asn363Thr Single submitter ⚠
p.Asn394His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asn394Thr Single submitter ⚠
p.Asn529Lys Single submitter ⚠
p.Asn590Ser Single submitter Inborn genetic diseases ⚠
p.Asn75Ile Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asn837Ile Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asn837Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp136Asn Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp147Glu Single submitter ⚠
p.Asp147Gly Single submitter ⚠
p.Asp151Val Single submitter Inborn genetic diseases ⚠
p.Asp185Glu Single submitter ⚠
p.Asp194Asn Single submitter ⚠
p.Asp194Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp215_Ala216delinsThr Single submitter developmental and epileptic encephalopathy, 31A
p.Asp218Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp243_Ala254del Single submitter developmental and epileptic encephalopathy, 31A
p.Asp247Asn Single submitter ⚠
p.Asp320Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp320His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp321Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp352Asn Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp380Tyr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Asp710His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Cys442Arg Single submitter ⚠
p.Cys86Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gln196= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln196Arg Single submitter ⚠
p.Gln283= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln303His Single submitter ⚠
p.Gln40Pro Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gln416Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gln447His Single submitter ⚠
p.Gln515= Single submitter developmental and epileptic encephalopathy, 31A
p.Gln602His Single submitter
p.Gln658Leu Single submitter ⚠
p.Gln711His Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gln782Leu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gln831Leu Single submitter ⚠
p.Glu100Lys Single submitter ⚠
p.Glu341Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu355Ter Single submitter
p.Glu383Asp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu466Asp Single submitter ⚠
p.Glu468Asp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu482Lys Single submitter ⚠
p.Glu560Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu638Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu640Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu640Lys Single submitter Inborn genetic diseases ⚠
p.Glu641del Single submitter developmental and epileptic encephalopathy, 31A
p.Glu720Gly Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu856Lys Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu95Asp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Glu95Gly Single submitter developmental and epileptic encephalopathy, 31A
p.Gly110Ala Single submitter ⚠
p.Gly197Arg Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly202Trp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly230Asp Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly24Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly295Trp Single submitter ⚠
p.Gly348Arg Single submitter Inborn genetic diseases ⚠
p.Gly401Glu Single submitter ⚠
p.Gly524Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly5Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly5Val Single submitter Inborn genetic diseases ⚠
p.Gly62Asp Single submitter Inborn genetic diseases ⚠
p.Gly631Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly643Asp Single submitter developmental and epileptic encephalopathy, 31A
p.Gly797Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly801Arg Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Gly848_Ser853dup Single submitter developmental and epileptic encephalopathy, 31A
p.Gly848Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.His128= Single submitter developmental and epileptic encephalopathy, 31A
p.His128Arg Single submitter developmental and epileptic encephalopathy, 31A
p.His262Gln Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.His288Arg Single submitter ⚠
p.His367Pro Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.His396Tyr Single submitter ⚠
p.His490Asp Single submitter ⚠
p.His687Gln Single submitter ⚠
p.His733_Ala734insHis Single submitter
p.His733Arg Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile10_Leu12delinsMet Single submitter
p.Ile120_Asn121insIle Single submitter developmental and epileptic encephalopathy, 31A
p.Ile201Met Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile232Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile23Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile307Val Single submitter Inborn genetic diseases ⚠
p.Ile34Leu Single submitter ⚠
p.Ile436Ser Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile481Met Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Ile672Thr Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Leu12Met Single submitter developmental and epileptic encephalopathy, 31A
p.Leu132Arg Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Leu134= Single submitter developmental and epileptic encephalopathy, 31A
p.Leu227Arg Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Leu227fs Single submitter
p.Leu384Phe Single submitter ⚠
p.Leu420Pro Single submitter
p.Leu435His Single submitter
p.Leu477Ile Single submitter DNM1-related disorder
p.Leu702Met Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Lys245Asn Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Lys279Asn Single submitter Inborn genetic diseases ⚠
p.Lys309Arg Single submitter ⚠
p.Lys309del Single submitter
p.Lys315Arg Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Lys342fs Single submitter
p.Lys419del Single submitter developmental and epileptic encephalopathy, 31A
p.Lys421Arg Single submitter
p.Lys421Thr Single submitter
p.Lys426Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Lys472Arg Single submitter ⚠
p.Lys510del Single submitter developmental and epileptic encephalopathy, 31A
p.Lys635= Single submitter developmental and epileptic encephalopathy, 31A
p.Lys89Asn Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Lys89Glu Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Met159Val Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Met1Thr Single submitter developmental and epileptic encephalopathy, 31A
p.Met210Arg Single submitter Inborn genetic diseases ⚠
p.Met332Ile Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Met332Val Single submitter ⚠
p.Met377Ile Single submitter ⚠
p.Met430Val Single submitter
p.Met456Ile Single submitter ⚠
p.Met506Ile Single submitter developmental and epileptic encephalopathy, 31A ⚠
p.Met564Leu Single submitter developmental and epileptic encephalopathy, 31A
p.Met648Leu Single submitter Inborn genetic diseases ⚠