NDE1 — 252 ClinVar variants
All ClinVar germline NDE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 17 Conflicting · 32 Benign · 3 Benign/Likely benign · 55 Likely benign · 136 Uncertain significance
Full NDE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- NDE1 p.Arg303Ser Conflicting Single submitter
-
NDE1 p.Met73Val
Conflicting
Single submitter
Inborn genetic diseases
-
NDE1 p.Ser291Phe
Conflicting
Single submitter
lissencephaly 4
-
NDE1 p.Thr32Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NDE1 p.Ala101Val
Uncertain significance
Multiple submitters
lissencephaly 4
-
NDE1 p.Ala208Val
Uncertain significance
Multiple submitters
lissencephaly 4
-
NDE1 p.Arg234His
Uncertain significance
Multiple submitters
NDE1-related microhydranencephaly
-
NDE1 p.Arg262Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Arg275Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Arg37Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Arg62Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NDE1 p.Arg72His Uncertain significance Multiple submitters
-
NDE1 p.Asp238Asn
Uncertain significance
Multiple submitters
lissencephaly 4
-
NDE1 p.Leu75Pro
Uncertain significance
Multiple submitters
lissencephaly 4
-
NDE1 p.Lys270Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Met193Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Pro213Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Ser307Arg
Uncertain significance
Multiple submitters
lissencephaly 4
-
NDE1 p.Thr209Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Thr52Met
Uncertain significance
Multiple submitters
lissencephaly 4
-
NDE1 p.Val278Leu
Uncertain significance
Multiple submitters
lissencephaly 4
-
NDE1 p.Ala130Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Ala249Ser
Uncertain significance
Single submitter
lissencephaly 4
-
NDE1 p.Ala29Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Arg129His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Arg190Gly
Uncertain significance
Single submitter
NDE1-related microhydranencephaly
- NDE1 p.Arg220Gln Uncertain significance Single submitter
-
NDE1 p.Arg220Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Arg234Ser Uncertain significance Single submitter
-
NDE1 p.Arg262Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Arg285Gln Uncertain significance Single submitter
-
NDE1 p.Arg304Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Arg91Gln Uncertain significance Single submitter
-
NDE1 p.Asn276Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Asp259Gly Uncertain significance Single submitter
- NDE1 p.Asp280Asn Uncertain significance Single submitter
- NDE1 p.Asp314His Uncertain significance Single submitter
- NDE1 p.Cys274Ser Uncertain significance Single submitter
-
NDE1 p.Gln109Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Gln281His Uncertain significance Single submitter
-
NDE1 p.Glu12Gly
Uncertain significance
Single submitter
lissencephaly 4
-
NDE1 p.Glu136Lys
Uncertain significance
Single submitter
lissencephaly 4
-
NDE1 p.Glu45Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Glu88Val Uncertain significance Single submitter
- NDE1 p.Gly241Ala Uncertain significance Single submitter
-
NDE1 p.Gly242Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Gly242Arg Uncertain significance Single submitter
-
NDE1 p.Gly301Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Gly5Arg Uncertain significance Single submitter
-
NDE1 p.Ile146Phe
Uncertain significance
Single submitter
lissencephaly 4
-
NDE1 p.Leu100Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Leu64Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Phe39Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Phe8Leu Uncertain significance Single submitter
- NDE1 p.Pro213Gln Uncertain significance Single submitter
-
NDE1 p.Pro244Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Pro247Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Pro289Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Ser196Leu Uncertain significance Single submitter
-
NDE1 p.Ser211Phe
Uncertain significance
Single submitter
lissencephaly 4
- NDE1 p.Ser214Phe Uncertain significance Single submitter
-
NDE1 p.Ser94Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Ser9Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Thr240Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Thr77Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Tyr17Cys Uncertain significance Single submitter
- NDE1 p.Val212Gly Uncertain significance Single submitter
-
NDE1 p.Val278Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Val310Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Arg72Cys
Uncertain significance
No assertion criteria
lissencephaly 4
Predictors split 13
The independent predictors disagree with each other — read with care.
-
NDE1 p.Asp259Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Glu34Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NDE1 p.Arg234Cys
Conflicting
Single submitter
lissencephaly 4
-
NDE1 p.Arg62Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Arg70His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Asn61Ser
Uncertain significance
Single submitter
intellectual disability
-
NDE1 p.Gln109Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Glu35Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NDE1 p.Met133Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Thr215Arg Uncertain significance Single submitter
-
NDE1 p.Thr215Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NDE1 p.Thr319Arg Uncertain significance Single submitter
-
NDE1 p.Thr32Lys
Uncertain significance
Single submitter
Inborn genetic diseases
All NDE1 variants
Pathogenic 7
- p.Arg37Ter Multiple submitters lissencephaly 4
- p.Pro229fs Multiple submitters NDE1-related microhydranencephaly
- c.704-1G>A Single submitter
- c.83+1G>T Single submitter lissencephaly 4
- p.Leu245fs Single submitter NDE1-related disorder
- c.-43-3548_83+622del No assertion criteria NDE1-related microhydranencephaly
- p.Trp18Ter No assertion criteria NDE1-related microhydranencephaly
Pathogenic/Likely pathogenic 1
- p.Arg220Ter Multiple submitters lissencephaly 4
Likely pathogenic 1
- c.947+2del Single submitter
Conflicting classifications of pathogenicity 17
- c.386+9G>A Single submitter lissencephaly 4
- c.-43-2A>G Single submitter NDE1-related microhydranencephaly
- p.Ala208= Single submitter lissencephaly 4
- p.Ala248= Single submitter lissencephaly 4
- p.Arg234Cys Single submitter lissencephaly 4 ⚠
- p.Arg303Ser Single submitter ⚠
- p.Arg44Ter Single submitter NDE1-related microhydranencephaly
- p.Asp171= Single submitter
- p.Glu97= Single submitter lissencephaly 4
- p.Gly241= Single submitter
- p.Met1Val Single submitter
- p.Met73Val Single submitter Inborn genetic diseases ⚠
- p.Ser291Phe Single submitter lissencephaly 4 ⚠
- p.Ser4= Single submitter lissencephaly 4
- p.Thr103= Single submitter lissencephaly 4
- p.Thr240= Single submitter lissencephaly 4
- p.Thr32Met Single submitter Inborn genetic diseases ⚠
Benign 32
- c.238-57T>C Multiple submitters
- c.386+41C>G Multiple submitters
- c.387-140G>T Multiple submitters
- c.387-178A>G Multiple submitters
- c.524-98G>A Multiple submitters
- c.795+113A>C Multiple submitters
- c.-152C>T Multiple submitters lissencephaly 4
- c.-164C>T Multiple submitters lissencephaly 4
- c.-545A>G Multiple submitters lissencephaly 4
- c.-564C>T Multiple submitters lissencephaly 4
- c.-675G>A Multiple submitters lissencephaly 4
- c.-94C>T Multiple submitters lissencephaly 4
- p.Tyr279= Multiple submitters lissencephaly 4
- c.237+103C>G Single submitter
- c.237+137C>G Single submitter
- c.237+191_237+192dup Single submitter
- c.237+192dup Single submitter
- c.237+193G>T Single submitter
- c.237+195_237+196insGT Single submitter
- c.237+195T>G Single submitter
- c.386+145G>A Single submitter
- c.796-312dup Single submitter
- c.796-319_796-318insC Single submitter
- c.83+188T>C Single submitter
- c.83+42del Single submitter
- c.947+2920G>A Single submitter
- c.-232A>G Single submitter lissencephaly 4
- c.-43-280A>G Single submitter
- c.-43-?_*2102+?dup Single submitter
- c.*2090T>C Single submitter lissencephaly 4
- c.*898del Single submitter
- c.*898dup Single submitter
Benign/Likely benign 3
- c.*863C>G Multiple submitters lissencephaly 4
- p.Leu162= Multiple submitters lissencephaly 4
- p.Thr191Ile Multiple submitters lissencephaly 4
Likely benign 55
- c.-773G>A Multiple submitters lissencephaly 4
- p.Ala22= Multiple submitters
- p.Asp237= Multiple submitters
- p.Glu49= Multiple submitters
- p.Leu277= Multiple submitters
- p.Pro247= Multiple submitters
- p.Thr32= Multiple submitters
- c.238-20G>C Single submitter
- c.238-39G>A Single submitter
- c.387-40G>C Single submitter
- c.387-60C>T Single submitter
- c.524-10T>A Single submitter
- c.524-45C>T Single submitter
- c.703+10G>A Single submitter
- c.704-12T>C Single submitter
- c.795+15T>C Single submitter
- c.795+5_795+7dup Single submitter
- c.795+98_795+107del Single submitter
- c.796-238C>T Single submitter
- c.796-318A>C Single submitter
- c.796-750A>G Single submitter
- c.796-77G>A Single submitter
- c.83+14C>T Single submitter
- c.83+210del Single submitter
- c.83+42dup Single submitter
- c.83+8C>T Single submitter
- c.83+9G>A Single submitter
- c.84-145G>A Single submitter
- c.-165-12_-165-9del Single submitter
- c.-302A>G Single submitter lissencephaly 4
- c.-353A>G Single submitter lissencephaly 4
- c.-43-64dup Single submitter
- c.-535C>A Single submitter lissencephaly 4
- c.-687C>T Single submitter lissencephaly 4
- c.*238C>G Single submitter lissencephaly 4
- c.*943C>T Single submitter lissencephaly 4
- p.Asp122= Single submitter
- p.Glu116= Single submitter
- p.Gly210= Single submitter
- p.Gly242= Single submitter
- p.Gly300= Single submitter
- p.Ile256= Single submitter
- p.Leu100= Single submitter
- p.Leu110= Single submitter
- p.Leu236= Single submitter
- p.Leu254= Single submitter
- p.Leu271= Single submitter
- p.Lys185= Single submitter
- p.Pro213= Single submitter
- p.Ser211= Single submitter
- p.Ser309= Single submitter
- p.Thr209= Single submitter
- p.Thr215= Single submitter
- p.Thr243= Single submitter
- p.Val264= Single submitter
Uncertain significance 136
- c.947+4A>G Multiple submitters
- p.Ala101Val Multiple submitters lissencephaly 4 ⚠
- p.Ala208Val Multiple submitters lissencephaly 4 ⚠
- p.Arg234His Multiple submitters NDE1-related microhydranencephaly ⚠
- p.Arg262Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg275Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg37Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg62Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg72His Multiple submitters ⚠
- p.Asp238Asn Multiple submitters lissencephaly 4 ⚠
- p.Asp259Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu34Gly Multiple submitters Inborn genetic diseases ⚠
- p.Leu75Pro Multiple submitters lissencephaly 4 ⚠
- p.Lys270Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met193Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro213Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser307Arg Multiple submitters lissencephaly 4 ⚠
- p.Thr209Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr52Met Multiple submitters lissencephaly 4 ⚠
- p.Val278Leu Multiple submitters lissencephaly 4 ⚠
- c.237+4A>T Single submitter Inborn genetic diseases
- c.238_240del Single submitter
- c.387-5G>A Single submitter
- c.524-6G>A Single submitter lissencephaly 4
- c.703+6G>A Single submitter
- c.796-6G>C Single submitter Inborn genetic diseases
- c.84-5T>C Single submitter lissencephaly 4
- c.947+11T>G Single submitter
- c.-132C>T Single submitter lissencephaly 4
- c.-186G>T Single submitter lissencephaly 4
- c.-246A>C Single submitter lissencephaly 4
- c.-340T>A Single submitter lissencephaly 4
- c.-35C>T Single submitter lissencephaly 4
- c.-398A>C Single submitter lissencephaly 4
- c.-479C>T Single submitter lissencephaly 4
- c.-512T>G Single submitter lissencephaly 4
- c.-695C>T Single submitter lissencephaly 4
- c.-765C>T Single submitter lissencephaly 4
- c.-794C>T Single submitter lissencephaly 4
- c.-812C>T Single submitter lissencephaly 4
- c.-825G>A Single submitter lissencephaly 4
- c.*1060A>G Single submitter lissencephaly 4
- c.*1064T>A Single submitter lissencephaly 4
- c.*1155A>G Single submitter lissencephaly 4
- c.*1209T>G Single submitter lissencephaly 4
- c.*1211A>T Single submitter lissencephaly 4
- c.*1305C>A Single submitter lissencephaly 4
- c.*1366C>T Single submitter lissencephaly 4
- c.*1383G>A Single submitter lissencephaly 4
- c.*1388C>T Single submitter lissencephaly 4
- c.*1567G>T Single submitter lissencephaly 4
- c.*1656C>T Single submitter lissencephaly 4
- c.*1663C>A Single submitter lissencephaly 4
- c.*1674A>C Single submitter lissencephaly 4
- c.*1786G>T Single submitter lissencephaly 4
- c.*1790T>C Single submitter lissencephaly 4
- c.*1808T>G Single submitter lissencephaly 4
- c.*1842A>G Single submitter lissencephaly 4
- c.*1850G>A Single submitter lissencephaly 4
- c.*193G>A Single submitter lissencephaly 4
- c.*2030T>C Single submitter lissencephaly 4
- c.*259G>T Single submitter lissencephaly 4
- c.*344C>T Single submitter lissencephaly 4
- c.*559G>T Single submitter lissencephaly 4
- c.*593A>G Single submitter lissencephaly 4
- c.*896A>C Single submitter lissencephaly 4
- c.*897A>C Single submitter lissencephaly 4
- c.*901C>A Single submitter lissencephaly 4
- c.*914A>G Single submitter lissencephaly 4
- p.Ala130Thr Single submitter Inborn genetic diseases ⚠
- p.Ala249Ser Single submitter lissencephaly 4 ⚠
- p.Ala272Thr Single submitter lissencephaly 4
- p.Ala29Val Single submitter Inborn genetic diseases ⚠
- p.Arg129= Single submitter
- p.Arg129His Single submitter Inborn genetic diseases ⚠
- p.Arg177Gln Single submitter
- p.Arg190Gly Single submitter NDE1-related microhydranencephaly ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg220Gly Single submitter Inborn genetic diseases ⚠
- p.Arg234Ser Single submitter ⚠
- p.Arg262Gln Single submitter Inborn genetic diseases
- p.Arg262Gly Single submitter Inborn genetic diseases ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg303= Single submitter
- p.Arg304Pro Single submitter Inborn genetic diseases ⚠
- p.Arg62Ser Single submitter Inborn genetic diseases ⚠
- p.Arg70His Single submitter Inborn genetic diseases ⚠
- p.Arg91Gln Single submitter ⚠
- p.Asn276Lys Single submitter Inborn genetic diseases ⚠
- p.Asn61Ser Single submitter intellectual disability ⚠
- p.Asp259Gly Single submitter ⚠
- p.Asp280Asn Single submitter ⚠
- p.Asp314His Single submitter ⚠
- p.Cys274Ser Single submitter ⚠
- p.Gln109Glu Single submitter Inborn genetic diseases ⚠
- p.Gln109Pro Single submitter Inborn genetic diseases ⚠
- p.Gln281His Single submitter ⚠
- p.Glu12Gly Single submitter lissencephaly 4 ⚠
- p.Glu136Lys Single submitter lissencephaly 4 ⚠
- p.Glu35Asp Single submitter Inborn genetic diseases ⚠
- p.Glu45Asp Single submitter Inborn genetic diseases ⚠
- p.Glu88Val Single submitter ⚠
- p.Gly230= Single submitter lissencephaly 4
- p.Gly241Ala Single submitter ⚠
- p.Gly242Ala Single submitter Inborn genetic diseases ⚠
- p.Gly242Arg Single submitter ⚠
- p.Gly301Arg Single submitter Inborn genetic diseases ⚠
- p.Gly5Arg Single submitter ⚠
- p.Ile146Phe Single submitter lissencephaly 4 ⚠
- p.Leu100Val Single submitter Inborn genetic diseases ⚠
- p.Leu64Ile Single submitter Inborn genetic diseases ⚠
- p.Lys315= Single submitter
- p.Met133Thr Single submitter Inborn genetic diseases ⚠
- p.Phe39= Single submitter
- p.Phe39Ser Single submitter Inborn genetic diseases ⚠
- p.Phe8Leu Single submitter ⚠
- p.Pro213Gln Single submitter ⚠
- p.Pro244Leu Single submitter Inborn genetic diseases ⚠
- p.Pro247Arg Single submitter Inborn genetic diseases ⚠
- p.Pro289Ala Single submitter Inborn genetic diseases ⚠
- p.Ser196Leu Single submitter ⚠
- p.Ser211Phe Single submitter lissencephaly 4 ⚠
- p.Ser214Phe Single submitter ⚠
- p.Ser94Leu Single submitter Inborn genetic diseases ⚠
- p.Ser9Thr Single submitter Inborn genetic diseases ⚠
- p.Thr215Arg Single submitter ⚠
- p.Thr215Met Single submitter Inborn genetic diseases ⚠
- p.Thr240Ala Single submitter Inborn genetic diseases ⚠
- p.Thr319Arg Single submitter ⚠
- p.Thr32Lys Single submitter Inborn genetic diseases ⚠
- p.Thr77Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr17Cys Single submitter ⚠
- p.Val212Gly Single submitter ⚠
- p.Val278Met Single submitter Inborn genetic diseases ⚠
- p.Val310Met Single submitter Inborn genetic diseases ⚠
- p.Arg72Cys No assertion criteria lissencephaly 4 ⚠