MLC1 — 696 ClinVar variants
All ClinVar germline MLC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →
33 Pathogenic · 20 Pathogenic/Likely pathogenic · 71 Likely pathogenic · 19 Conflicting · 86 Benign · 9 Benign/Likely benign · 259 Likely benign · 199 Uncertain significance
Full MLC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 138
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MLC1 p.Pro294Leu
Pathogenic/Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Ser93Leu
Pathogenic/Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts
- MLC1 p.Ala275Thr Likely pathogenic Single submitter
-
MLC1 p.Asn141Ser
Pathogenic
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts 1
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- MLC1 p.Ala32Thr Conflicting Single submitter
-
MLC1 p.Ala32Val
Conflicting
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Gly317Ser
Conflicting
Single submitter
Inborn genetic diseases
-
MLC1 p.Leu306Gln
Conflicting
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Val210Ile
Conflicting
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MLC1 p.Ala205Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Arg14Gln
Uncertain significance
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Arg22Gln
Uncertain significance
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Arg22Trp Uncertain significance Multiple submitters
-
MLC1 p.Arg328His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Arg349His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Asn110Ser
Uncertain significance
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Gln336His
Uncertain significance
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Glu168Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Glu187Asp
Uncertain significance
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Leu306Arg Uncertain significance Multiple submitters
-
MLC1 p.Pro34Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Ser199Pro
Uncertain significance
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Thr17Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Thr268Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Tyr301Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Val237Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Val371Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MLC1 p.Ala163Thr Uncertain significance Single submitter
-
MLC1 p.Ala209Asp
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Ala32Pro Uncertain significance Single submitter
-
MLC1 p.Ala338Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Arg328Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Arg334Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Arg349Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Arg356Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Arg42Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Asn183Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Asp170His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Asp302Asn
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts
- MLC1 p.Asp36Asn Uncertain significance Single submitter
-
MLC1 p.Gln347Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Glu288Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Gly317Asp Uncertain significance Single submitter
-
MLC1 p.Gly337Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Ile113Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Ile244Val Uncertain significance Single submitter
- MLC1 p.Ile283Val Uncertain significance Single submitter
- MLC1 p.Ile297Arg Uncertain significance Single submitter
-
MLC1 p.Leu217Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Leu267Val Uncertain significance Single submitter
-
MLC1 p.Lys175Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Lys175Asn
Uncertain significance
Single submitter
MLC1-related disorder
-
MLC1 p.Pro25Arg
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Pro5Leu Uncertain significance Single submitter
- MLC1 p.Ser179Cys Uncertain significance Single submitter
-
MLC1 p.Ser199Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Ser269Tyr Uncertain significance Single submitter
- MLC1 p.Ser27Gly Uncertain significance Single submitter
- MLC1 p.Ser280Pro Uncertain significance Single submitter
-
MLC1 p.Ser35Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Ser40Leu Uncertain significance Single submitter
-
MLC1 p.Ser97Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Thr274Ala Uncertain significance Single submitter
- MLC1 p.Thr51Met Uncertain significance Single submitter
- MLC1 p.Val188Ala Uncertain significance Single submitter
- MLC1 p.Val223Ile Uncertain significance Single submitter
- MLC1 p.Val260Ile Uncertain significance Single submitter
-
MLC1 p.Val287Met
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Val56Ala Uncertain significance Single submitter
-
MLC1 p.Ala86Pro
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Arg20Gln
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Arg328Ser
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Gln336Arg
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Ile91Val
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Lys175Gln
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Met178Val
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Ser101Cys
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Thr99Ala
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Val201Phe
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Val331Ile
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Val331Phe
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
Predictors split 57
The independent predictors disagree with each other — read with care.
-
MLC1 p.Ala120Val
Pathogenic/Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts
- MLC1 p.Arg14Gly Uncertain significance Multiple submitters
- MLC1 p.Arg14Trp Uncertain significance Multiple submitters
- MLC1 p.Arg193Trp Uncertain significance Multiple submitters
-
MLC1 p.Asn218Lys
Benign/Likely benign
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Asp363Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Glu361Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Gly212Glu
Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts
- MLC1 p.His247Gln Uncertain significance Multiple submitters
-
MLC1 p.Leu83Phe
Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Pro92Ser
Pathogenic/Likely pathogenic
Multiple submitters
MLC1-related disorder
-
MLC1 p.Ser69Leu
Pathogenic/Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Thr118Met
Pathogenic/Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Thr124Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MLC1 p.Thr268Arg
Likely pathogenic
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts
- MLC1 p.Thr320Met Uncertain significance Multiple submitters
-
MLC1 p.Tyr12Ser
Uncertain significance
Multiple submitters
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Ala157Val Uncertain significance Single submitter
- MLC1 p.Ala245Gly Uncertain significance Single submitter
-
MLC1 p.Arg165Trp
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Arg193Gln Uncertain significance Single submitter
- MLC1 p.Arg193Gly Uncertain significance Single submitter
-
MLC1 p.Asp363Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Cys90Gly Uncertain significance Single submitter
-
MLC1 p.Glu202Lys
Likely pathogenic
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Gly321Val
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Leu135Pro
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Leu236Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Leu272Met Uncertain significance Single submitter
- MLC1 p.Leu310Pro Uncertain significance Single submitter
-
MLC1 p.Leu318Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Leu359Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MLC1 p.Lys132Asn Uncertain significance Single submitter
- MLC1 p.Phe115Leu Uncertain significance Single submitter
- MLC1 p.Phe129Leu Uncertain significance Single submitter
-
MLC1 p.Phe233Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MLC1 p.Phe273Leu
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Pro92Leu Likely pathogenic Single submitter
- MLC1 p.Ser229Leu Uncertain significance Single submitter
- MLC1 p.Thr123Ala Uncertain significance Single submitter
-
MLC1 p.Thr123Ile
Pathogenic
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Thr159Met Uncertain significance Single submitter
- MLC1 p.Thr231Arg Uncertain significance Single submitter
-
MLC1 p.Tyr278Cys
Conflicting
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
- MLC1 p.Val371Gly Uncertain significance Single submitter
- MLC1 p.Val373Met Uncertain significance Single submitter
-
MLC1 p.Val96Leu
Uncertain significance
Single submitter
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Asn141Lys
Pathogenic
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Asp363Tyr
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Glu251Gly
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Gly206Val
Pathogenic
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Leu308Gln
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Phe290Ser
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Ser280Leu
Conflicting
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Thr274Ile
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts 1
-
MLC1 p.Val116Leu
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
-
MLC1 p.Val237Gly
Uncertain significance
No assertion criteria
megalencephalic leukoencephalopathy with subcortical cysts
All MLC1 variants
Pathogenic 33
- p.Ala275Asp Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Cys46fs Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Leu150fs Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Ser197_Tyr198insTer Multiple submitters MLC1-related disorder
- p.Ser246fs Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Val303fs Multiple submitters Inborn genetic diseases
- c.423+2T>G Single submitter
- c.772-1G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- c.772-2_772-1inv Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- c.894+1G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala275fs Single submitter
- p.Asn110fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Cys61Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Gln112fs Single submitter
- p.Gln38fs Single submitter
- p.Ile113fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ile161fs Single submitter
- p.Ile214fs Single submitter
- p.Leu307_Leu314del Single submitter
- p.Leu307fs Single submitter Fetal anomalies with a likely genetic cause
- p.Met284fs Single submitter
- p.Phe233_Trp234insTer Single submitter
- p.Ser40Ter Single submitter
- p.Ser55fs Single submitter
- p.Thr123Ile Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Trp234Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Trp52Ter Single submitter
- p.Val237fs Single submitter
- c.895-2A>G No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Asn141Lys No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Asn141Ser No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Gly206Val No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Val75fs No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
Pathogenic/Likely pathogenic 20
- c.177+1del Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.299_423+108del Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- c.423+1G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.423+1G>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.525+1G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.597+1G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- c.714+1G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Ala120Val Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Cys252fs Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Cys326Arg Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Gln23Ter Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Gln325Ter Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Gly59Glu Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Ile283_Met284insTer Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Pro294Leu Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Pro92Ser Multiple submitters MLC1-related disorder ⚠
- p.Ser69Leu Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Ser93Leu Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Thr118Met Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Thr320Lys Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
Likely pathogenic 71
- c.1059+1G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.321+1G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- c.321+2T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.321+2T>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- c.597+2T>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.597+2T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala157Glu Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Gln315Ter Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Glu187Ter Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Glu251fs Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Gly212Arg Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Gly212Glu Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Leu309_Leu310del Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu83Phe Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Ser254fs Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Thr268Arg Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts ⚠
- c.1059+1G>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- c.1060-2A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.268-2A>G Single submitter
- c.322-1G>T Single submitter
- c.322-5T>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.424-1G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.525+1G>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- c.525+2T>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.526-2A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.594_597+2delinsTTCGGC Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.597_597+1del Single submitter
- c.597+1_597+34del Single submitter
- c.714+2T>C Single submitter
- c.772-2del Single submitter
- c.895-2_898delinsCTTCTG Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-217-194T>C Single submitter
- p.Ala164fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala245fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Ala275Thr Single submitter ⚠
- p.Asp31fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Cys131Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Glu202Lys Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Gly317fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ile283fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu114fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu114Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu126Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu228_Ser229insIleLeuTer Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu228fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Leu314fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Lys132fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Lys173Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Lys174fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Lys298Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Pro92Leu Single submitter ⚠
- p.Ser138Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser199Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser246Arg Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser265fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser266Arg Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser280Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Thr118Arg Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Thr274Pro Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Trp128Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Tyr198fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Tyr301Ter Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Val116fs Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.321+1G>T No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- c.423+2dup No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- c.895-1G>C No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala209fs No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ile91fs No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Met15fs No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ter378Arg No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Tyr28Ter No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
Conflicting classifications of pathogenicity 19
- c.1060-9C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.177+1G>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- c.598-9C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- c.715-5C>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.772-15G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*18C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala209= Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala32Thr Single submitter ⚠
- p.Ala32Val Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Asn344= Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Asp31= Single submitter
- p.Gly317Ser Single submitter Inborn genetic diseases ⚠
- p.Leu306Gln Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Met1Ile Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Tyr278Cys Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Tyr293= Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Val210Ile Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Val327Met Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser280Leu No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
Benign 86
- c.1059+27A>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.1060-177A>G Multiple submitters
- c.321+50T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.423+108A>G Multiple submitters
- c.423+121T>G Multiple submitters
- c.525+153G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.525+22G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.525+64G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.526-118C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.597+34A>G Multiple submitters
- c.714+28G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.715-184C>T Multiple submitters
- c.771+158G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.771+160T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.771+175T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.771+59C>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.771+61T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.772-110A>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.772-14C>T Multiple submitters
- c.772-34G>A Multiple submitters
- c.772-35C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.772-80C>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.894+194G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.894+199C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.894+52T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.895-139G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.895-23C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.895-259G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- c.895-261A>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- c.895-9C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-156C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-561G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-59-17T>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- c.*1127C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1143C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1334G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1623G>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1764G>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1773G>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1836G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1963C>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*45A>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*48A>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*55C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*937C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*970G>C Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*991T>G Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Asn344Ser Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Cys171Phe Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Cys326= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser199= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser332= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Tyr198= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.1059+162T>C Single submitter
- c.1059+178A>G Single submitter
- c.1059+248T>C Single submitter
- c.1059+292A>G Single submitter
- c.177+15A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.177+225T>C Single submitter
- c.322-4del Single submitter
- c.424-264A>G Single submitter
- c.597+264C>T Single submitter
- c.597+286del Single submitter
- c.598-6del Single submitter
- c.714+131A>C Single submitter
- c.771+13del Single submitter
- c.771+206C>T Single submitter
- c.771+235C>T Single submitter
- c.771+254T>G Single submitter
- c.771+284T>A Single submitter
- c.772-171del Single submitter
- c.772-174_772-171del Single submitter
- c.772-175_772-174insG Single submitter
- c.772-175A>G Single submitter
- c.772-178_772-177insAG Single submitter
- c.772-191_772-190dup Single submitter
- c.772-191dup Single submitter
- c.772-5dup Single submitter
- c.895-435del Single submitter
- c.-59-14T>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*12G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1321A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*339C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*572C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*661G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*773G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
Benign/Likely benign 9
- c.1059+16G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.177+77G>A Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.423+19C>T Multiple submitters
- c.714+14C>T Multiple submitters
- p.Ala182Thr Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala351= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Asn218Lys Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Phe362= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Val311Glu Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
Likely benign 259
- c.1059+13C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.1059+20A>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.268-14C>T Multiple submitters
- c.423+12C>T Multiple submitters
- c.424-18G>A Multiple submitters
- c.715-18C>T Multiple submitters
- c.715-19C>G Multiple submitters
- c.894+128C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1499C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*431C>T Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala26Thr Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Ala275= Multiple submitters
- p.Ala316= Multiple submitters
- p.Ala32= Multiple submitters
- p.Asn218= Multiple submitters
- p.Gly345Ser Multiple submitters Inborn genetic diseases
- p.Leu211= Multiple submitters
- p.Phe232= Multiple submitters
- p.Pro294= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ser179= Multiple submitters
- p.Ser35= Multiple submitters
- p.Ser357= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts
- p.Thr118= Multiple submitters
- p.Tyr12= Multiple submitters
- c.1059+10C>T Single submitter
- c.1059+12G>A Single submitter
- c.1059+20A>C Single submitter
- c.1059+8G>A Single submitter
- c.1059+9C>T Single submitter
- c.1060-17T>A Single submitter
- c.1060-6T>C Single submitter
- c.1060-8G>A Single submitter
- c.1060-9C>G Single submitter
- c.177+11C>T Single submitter
- c.177+8G>C Single submitter
- c.268-12G>C Single submitter
- c.268-13G>T Single submitter
- c.268-18del Single submitter
- c.268-19G>C Single submitter
- c.321+15C>G Single submitter
- c.321+15C>T Single submitter
- c.321+16A>C Single submitter
- c.321+16A>G Single submitter
- c.321+18del Single submitter
- c.322-11T>G Single submitter
- c.322-12C>T Single submitter
- c.322-13C>A Single submitter
- c.322-14G>C Single submitter
- c.322-19C>T Single submitter
- c.322-4T>C Single submitter
- c.423+10C>T Single submitter
- c.423+15G>A Single submitter
- c.423+18T>G Single submitter
- c.423+20G>A Single submitter
- c.423+8C>T Single submitter
- c.424-11C>T Single submitter
- c.424-14G>A Single submitter
- c.424-14G>T Single submitter
- c.424-16G>A Single submitter
- c.424-18G>C Single submitter
- c.424-19C>A Single submitter
- c.424-19C>G Single submitter
- c.424-19C>T Single submitter
- c.424-4G>A Single submitter
- c.424-9C>T Single submitter
- c.525+10G>T Single submitter
- c.525+11C>A Single submitter
- c.525+11C>T Single submitter
- c.525+13T>A Single submitter
- c.525+15T>C Single submitter
- c.525+18C>G Single submitter
- c.525+18C>T Single submitter
- c.525+9A>C Single submitter
- c.526-12G>A Single submitter
- c.526-12G>C Single submitter
- c.526-14C>A Single submitter
- c.526-18A>G Single submitter
- c.526-19C>T Single submitter
- c.526-4G>A Single submitter
- c.526-4G>T Single submitter
- c.526-5C>T Single submitter
- c.526-7T>C Single submitter
- c.597+11_597+13del Single submitter
- c.597+13C>A Single submitter
- c.597+15C>T Single submitter
- c.597+9A>C Single submitter
- c.597+9A>T Single submitter
- c.598-10T>C Single submitter
- c.598-11G>C Single submitter
- c.598-13C>T Single submitter
- c.598-14C>A Single submitter
- c.598-14C>G Single submitter
- c.598-18C>G Single submitter
- c.598-19G>A Single submitter
- c.598-7C>G Single submitter
- c.598-7C>T Single submitter
- c.598-8C>G Single submitter
- c.598-8C>T Single submitter
- c.598-9C>A Single submitter
- c.714+10C>T Single submitter
- c.714+11C>A Single submitter
- c.714+13T>C Single submitter
- c.714+20C>T Single submitter
- c.714+9C>A Single submitter
- c.714+9C>T Single submitter
- c.715-19C>T Single submitter
- c.715-6T>A Single submitter
- c.715-7C>T Single submitter
- c.715-8T>A Single submitter
- c.771+10C>A Single submitter
- c.771+11C>T Single submitter
- c.771+12C>T Single submitter
- c.771+13C>G Single submitter
- c.771+19C>T Single submitter
- c.771+7G>A Single submitter
- c.772-13G>A Single submitter
- c.772-14C>A Single submitter
- c.772-15G>C Single submitter
- c.772-15G>T Single submitter
- c.772-16C>T Single submitter
- c.772-5T>C Single submitter
- c.772-7T>C Single submitter
- c.894+16T>G Single submitter
- c.894+8_894+11del Single submitter
- c.894+8G>A Single submitter
- c.895-10C>T Single submitter
- c.895-18A>C Single submitter
- c.895-241G>A Single submitter
- c.895-242C>T Single submitter
- c.895-7C>T Single submitter
- c.895-8G>A Single submitter
- c.895-8G>C Single submitter
- c.-414G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1689T>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*2051G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*215C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*414C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*660C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*860A>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala11= Single submitter
- p.Ala139= Single submitter
- p.Ala157= Single submitter
- p.Ala163= Single submitter
- p.Ala164= Single submitter
- p.Ala216= Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Ala250= Single submitter
- p.Ala26= Single submitter
- p.Ala323= Single submitter
- p.Ala333= Single submitter
- p.Ala370= Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Ala376= Single submitter
- p.Arg193= Single submitter
- p.Arg22= Single submitter
- p.Arg349= Single submitter
- p.Arg42= Single submitter
- p.Asn104= Single submitter
- p.Asn106Ser Single submitter Inborn genetic diseases
- p.Asn183= Single submitter
- p.Asn319= Single submitter
- p.Asp186= Single submitter
- p.Asp220= Single submitter
- p.Asp292= Single submitter
- p.Asp302= Single submitter
- p.Asp363= Single submitter
- p.Cys256= Single submitter
- p.Cys90= Single submitter
- p.Glu168= Single submitter
- p.Glu187= Single submitter
- p.Glu202= Single submitter
- p.Glu251= Single submitter
- p.Glu288= Single submitter
- p.Glu348= Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Glu4= Single submitter
- p.Glu8= Single submitter
- p.Gly130= Single submitter
- p.Gly176= Single submitter
- p.Gly212= Single submitter
- p.Gly213= Single submitter
- p.Gly225= Single submitter
- p.Gly317= Single submitter
- p.Gly337= Single submitter
- p.His227= Single submitter
- p.His247= Single submitter
- p.His49= Single submitter
- p.Ile147= Single submitter
- p.Ile162= Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Ile204= Single submitter
- p.Ile207= Single submitter
- p.Ile215= Single submitter
- p.Ile286= Single submitter
- p.Leu10= Single submitter
- p.Leu114= Single submitter
- p.Leu149= Single submitter
- p.Leu151= Single submitter
- p.Leu155= Single submitter
- p.Leu195= Single submitter
- p.Leu236= Single submitter
- p.Leu257= Single submitter
- p.Leu272= Single submitter
- p.Leu279= Single submitter
- p.Leu305= Single submitter
- p.Leu309= Single submitter
- p.Leu310= Single submitter
- p.Leu313= Single submitter
- p.Leu314= Single submitter
- p.Leu359= Single submitter
- p.Leu43= Single submitter
- p.Lys132= Single submitter
- p.Lys255= Single submitter
- p.Lys33= Single submitter
- p.Lys360= Single submitter
- p.Lys366= Single submitter
- p.Met178Ile Single submitter Inborn genetic diseases
- p.Phe47= Single submitter
- p.Phe54= Single submitter
- p.Pro137= Single submitter
- p.Pro25= Single submitter
- p.Pro270= Single submitter
- p.Pro295= Single submitter
- p.Pro299= Single submitter
- p.Pro34= Single submitter
- p.Pro346= Single submitter
- p.Pro45= Single submitter
- p.Pro92= Single submitter
- p.Ser101= Single submitter
- p.Ser138= Single submitter
- p.Ser166= Single submitter
- p.Ser181= Single submitter
- p.Ser265= Single submitter
- p.Ser300= Single submitter
- p.Ser40= Single submitter
- p.Ser55= Single submitter
- p.Ser93= Single submitter megalencephalic leukoencephalopathy with subcortical cysts
- p.Ser97= Single submitter
- p.Thr124= Single submitter
- p.Thr159= Single submitter
- p.Thr17= Single submitter
- p.Thr2= Single submitter
- p.Thr231= Single submitter
- p.Thr268= Single submitter
- p.Thr320= Single submitter
- p.Thr322= Single submitter
- p.Thr342= Single submitter
- p.Thr51= Single submitter
- p.Thr99= Single submitter
- p.Tyr28= Single submitter
- p.Tyr301= Single submitter
- p.Val100= Single submitter
- p.Val134= Single submitter
- p.Val188= Single submitter
- p.Val200= Single submitter
- p.Val201= Single submitter
- p.Val201Ile Single submitter
- p.Val203= Single submitter
- p.Val260= Single submitter
- p.Val354= Single submitter
- p.Val371= Single submitter
- p.Val373= Single submitter
- p.Val53= Single submitter
Uncertain significance 199
- p.Ala205Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg14Gln Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Arg14Gly Multiple submitters ⚠
- p.Arg14Trp Multiple submitters ⚠
- p.Arg193Trp Multiple submitters ⚠
- p.Arg22Gln Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Arg22Trp Multiple submitters ⚠
- p.Arg328His Multiple submitters Inborn genetic diseases ⚠
- p.Arg349His Multiple submitters Inborn genetic diseases ⚠
- p.Asn110Ser Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Asp363Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln336His Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Glu168Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu187Asp Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Glu361Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly59= Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.His247Gln Multiple submitters ⚠
- p.Leu306Arg Multiple submitters ⚠
- p.Leu310dup Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Pro34Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser199Pro Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Thr124Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr17Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr268Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr320Met Multiple submitters ⚠
- p.Tyr12Ser Multiple submitters megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Tyr301Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val237Glu Multiple submitters Inborn genetic diseases ⚠
- p.Val371Ile Multiple submitters Inborn genetic diseases ⚠
- c.1059+12_1059+13insGCTGGGGAGGTGAGTGGCCTGTGGGGTGGGGGT Single submitter
- c.177+5G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.321+5G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.322-12_322-8del Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.714+5G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.715-3T>G Single submitter
- c.771+5G>A Single submitter
- c.-100A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-110G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-226A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-455G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-467G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-487G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-534G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-540G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.-602G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1115G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1199G>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1273C>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1306G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1398A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1493A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1781C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1787G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1874G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1934G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*1951A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*203A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*2049G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*2068C>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*2075A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*2163T>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*2167G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*267G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*337C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*430A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*451T>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*461G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*533T>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*549G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*580G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*601C>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*607C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*627G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*713C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*717C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*730G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*788G>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*806C>A Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*824A>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*827G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*829C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*863T>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*880C>G Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*886T>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*964G>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*996T>C Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*9C>T Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Ala157Val Single submitter ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala209Asp Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Ala245Gly Single submitter ⚠
- p.Ala32Pro Single submitter ⚠
- p.Ala338Pro Single submitter Inborn genetic diseases ⚠
- p.Arg165Trp Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg193Gly Single submitter ⚠
- p.Arg328Cys Single submitter Inborn genetic diseases ⚠
- p.Arg334Ser Single submitter Inborn genetic diseases ⚠
- p.Arg349Cys Single submitter Inborn genetic diseases ⚠
- p.Arg356Gly Single submitter Inborn genetic diseases ⚠
- p.Arg42Thr Single submitter Inborn genetic diseases ⚠
- p.Asn110Lys Single submitter Inborn genetic diseases
- p.Asn183Ser Single submitter Inborn genetic diseases ⚠
- p.Asp170His Single submitter Inborn genetic diseases ⚠
- p.Asp302Asn Single submitter megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Asp363Glu Single submitter Inborn genetic diseases ⚠
- p.Asp36Asn Single submitter ⚠
- p.Cys90Gly Single submitter ⚠
- p.Gln347Leu Single submitter Inborn genetic diseases ⚠
- p.Glu169del Single submitter
- p.Glu288Ala Single submitter Inborn genetic diseases ⚠
- p.Gly21Asp Single submitter
- p.Gly317Asp Single submitter ⚠
- p.Gly321Val Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Gly337Arg Single submitter Inborn genetic diseases ⚠
- p.Ile113Met Single submitter Inborn genetic diseases ⚠
- p.Ile244Val Single submitter ⚠
- p.Ile283Val Single submitter ⚠
- p.Ile297Arg Single submitter ⚠
- p.Leu135Pro Single submitter megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Leu18= Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu217Pro Single submitter Inborn genetic diseases ⚠
- p.Leu236Pro Single submitter Inborn genetic diseases ⚠
- p.Leu267Val Single submitter ⚠
- p.Leu272Met Single submitter ⚠
- p.Leu308_Leu310del Single submitter Fetal anomalies with a likely genetic cause
- p.Leu308_Leu310dup Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu309_Leu310dup Single submitter
- p.Leu310_Leu314del Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu310del Single submitter
- p.Leu310Pro Single submitter ⚠
- p.Leu318Phe Single submitter Inborn genetic diseases ⚠
- p.Leu350= Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Leu359Pro Single submitter Inborn genetic diseases ⚠
- p.Lys132Asn Single submitter ⚠
- p.Lys175Arg Single submitter Inborn genetic diseases ⚠
- p.Lys175Asn Single submitter MLC1-related disorder ⚠
- p.Phe115Leu Single submitter ⚠
- p.Phe129Leu Single submitter ⚠
- p.Phe233Ser Single submitter Inborn genetic diseases ⚠
- p.Phe273Leu Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Pro25Arg Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Pro5Leu Single submitter ⚠
- p.Ser179Cys Single submitter ⚠
- p.Ser199Leu Single submitter Inborn genetic diseases ⚠
- p.Ser229Leu Single submitter ⚠
- p.Ser269Tyr Single submitter ⚠
- p.Ser27Gly Single submitter ⚠
- p.Ser280Pro Single submitter ⚠
- p.Ser35Arg Single submitter Inborn genetic diseases ⚠
- p.Ser40Leu Single submitter ⚠
- p.Ser97Arg Single submitter Inborn genetic diseases ⚠
- p.Thr123Ala Single submitter ⚠
- p.Thr159Met Single submitter ⚠
- p.Thr231Arg Single submitter ⚠
- p.Thr274Ala Single submitter ⚠
- p.Thr51Met Single submitter ⚠
- p.Val188Ala Single submitter ⚠
- p.Val223Ile Single submitter ⚠
- p.Val260Ile Single submitter ⚠
- p.Val287Met Single submitter Inborn genetic diseases ⚠
- p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal Single submitter
- p.Val371Gly Single submitter ⚠
- p.Val373Met Single submitter ⚠
- p.Val56Ala Single submitter ⚠
- p.Val96Leu Single submitter megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- c.715-7C>G No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- c.771+2dup No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- c.894+4A>G No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- c.895-227C>A No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- c.-59-1G>C No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- c.*3C>A No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- p.Ala367= No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- p.Ala86Pro No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Arg20Gln No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Arg328Ser No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Arg356fs No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Asn106= No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- p.Asp363Tyr No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Gln336Arg No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Glu251Gly No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Ile91Val No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Leu308Gln No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Leu359fs No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Lys175Gln No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Lys298= No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- p.Met178Val No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Phe290Ser No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Pro241= No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- p.Ser101Cys No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Ser280_Phe281delinsIleLeu No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1
- p.Thr274Ile No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts 1 ⚠
- p.Thr99Ala No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Val116Leu No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Val201Phe No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Val237Gly No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Val331= No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts
- p.Val331Ile No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠
- p.Val331Phe No assertion criteria megalencephalic leukoencephalopathy with subcortical cysts ⚠