DCX — 327 ClinVar variants
All ClinVar germline DCX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
110 Pathogenic · 10 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 16 Conflicting · 11 Benign · 10 Benign/Likely benign · 32 Likely benign · 97 Uncertain significance
Full DCX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DCX p.Pro353Ser
Likely pathogenic
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DCX p.Ala71Thr
Conflicting
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
-
DCX p.Arg102Cys
Conflicting
Single submitter
Ectopic tissue
-
DCX p.Arg102His
Conflicting
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
-
DCX p.Arg178Leu
Conflicting
Single submitter
Ectopic tissue
-
DCX p.Arg186His
Conflicting
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
-
DCX p.Arg196Ser
Conflicting
Single submitter
Ectopic tissue
- DCX p.Arg258Cys Conflicting Single submitter
-
DCX p.Arg63Cys
Conflicting
Single submitter
Ectopic tissue
-
DCX p.Gly122Arg
Conflicting
Single submitter
Ectopic tissue
-
DCX p.Gly223Arg
Conflicting
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
-
DCX p.Ser47Arg
Conflicting
Single submitter
DCX-related disorder
- DCX p.Thr88Met Conflicting Single submitter
Predicted LoF vs a conflicting call 1
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.
-
DCX p.Leu356fs
Conflicting
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DCX p.Ala295Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DCX p.Asp313Asn Uncertain significance Multiple submitters
-
DCX p.Cys35Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DCX p.Gly283Ser
Uncertain significance
Multiple submitters
lissencephaly type 1 due to doublecortin gene mutation
-
DCX p.Ser147Pro
Uncertain significance
Multiple submitters
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Ser359Leu Uncertain significance Multiple submitters
- DCX p.Thr40Ile Uncertain significance Multiple submitters
- DCX p.Ala251Thr Uncertain significance Single submitter
-
DCX p.Ala286Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCX p.Ala52Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCX p.Arg192Gln
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Arg196Leu Uncertain significance Single submitter
- DCX p.Asn141Asp Uncertain significance Single submitter
- DCX p.Asn143Ile Uncertain significance Single submitter
-
DCX p.Asn17Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DCX p.Asn200Tyr Uncertain significance Single submitter
- DCX p.Asp12Gly Uncertain significance Single submitter
- DCX p.Asp130Gly Uncertain significance Single submitter
- DCX p.Asp262Gly Uncertain significance Single submitter
-
DCX p.Asp263Asn
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Asp267Gly Uncertain significance Single submitter
-
DCX p.Asp309Asn
Uncertain significance
Single submitter
genetic developmental and epileptic encephalopathy
- DCX p.Cys238Arg Uncertain significance Single submitter
- DCX p.Gln209His Uncertain significance Single submitter
- DCX p.Glu172Gln Uncertain significance Single submitter
- DCX p.Glu2Lys Uncertain significance Single submitter
- DCX p.Gly188Arg Uncertain significance Single submitter
-
DCX p.His205Asp
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Ile185Asn Uncertain significance Single submitter
- DCX p.Leu119Arg Uncertain significance Single submitter
- DCX p.Leu199Arg Uncertain significance Single submitter
- DCX p.Leu211His Uncertain significance Single submitter
- DCX p.Leu46Pro Uncertain significance Single submitter
- DCX p.Lys190Glu Uncertain significance Single submitter
-
DCX p.Lys202Glu
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Lys226Thr Uncertain significance Single submitter
-
DCX p.Lys227Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DCX p.Lys256Gln Uncertain significance Single submitter
- DCX p.Lys256Glu Uncertain significance Single submitter
- DCX p.Lys54Asn Uncertain significance Single submitter
- DCX p.Phe176Cys Uncertain significance Single submitter
-
DCX p.Phe249Ser
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Phe80Leu Uncertain significance Single submitter
-
DCX p.Pro278Ala
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
-
DCX p.Pro284Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DCX p.Pro288Ser Uncertain significance Single submitter
- DCX p.Pro29Leu Uncertain significance Single submitter
-
DCX p.Ser124Asn
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Thr281Pro Uncertain significance Single submitter
- DCX p.Thr319Ala Uncertain significance Single submitter
- DCX p.Thr88Arg Uncertain significance Single submitter
- DCX p.Trp146Cys Uncertain significance Single submitter
-
DCX p.Val136Met
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Val148Gly Uncertain significance Single submitter
-
DCX p.Val177Gly
Uncertain significance
Single submitter
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Val182Asp Uncertain significance Single submitter
- DCX p.Asn173Ser Uncertain significance No assertion criteria
-
DCX p.Lys256Asn
Uncertain significance
No assertion criteria
DCX-related disorder
Predictors split 27
The independent predictors disagree with each other — read with care.
-
DCX p.Arg302Cys
Uncertain significance
Multiple submitters
DCX-related disorder
-
DCX p.Ile107Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DCX p.Pro298Ser Uncertain significance Multiple submitters
-
DCX p.Val136Leu
Uncertain significance
Multiple submitters
lissencephaly type 1 due to doublecortin gene mutation
- DCX p.Arg19Gln Uncertain significance Single submitter
- DCX p.Arg22Gln Uncertain significance Single submitter
- DCX p.Arg22Trp Uncertain significance Single submitter
-
DCX p.Arg303Gln
Conflicting
Single submitter
Inborn genetic diseases
-
DCX p.Arg344Gln
Uncertain significance
Single submitter
intellectual disability
- DCX p.Arg344Pro Uncertain significance Single submitter
- DCX p.Arg344Trp Uncertain significance Single submitter
- DCX p.Asp349His Uncertain significance Single submitter
- DCX p.Glu120Lys Uncertain significance Single submitter
- DCX p.Gly363Arg Uncertain significance Single submitter
- DCX p.Ile214Val Uncertain significance Single submitter
- DCX p.Leu239Val Uncertain significance Single submitter
- DCX p.Lys292Glu Uncertain significance Single submitter
-
DCX p.Lys53Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCX p.Ser297Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DCX p.Ser297Thr Uncertain significance Single submitter
- DCX p.Ser325Thr Uncertain significance Single submitter
- DCX p.Ser32Arg Uncertain significance Single submitter
-
DCX p.Ser32Asn
Pathogenic
Single submitter
Ectopic tissue
-
DCX p.Ser339Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DCX p.Ser339Asn Uncertain significance Single submitter
- DCX p.Thr152Ser Uncertain significance Single submitter
-
DCX p.Val197Met
Uncertain significance
Single submitter
intellectual disability
All DCX variants
Pathogenic 110
- c.705+1G>A Multiple submitters
- c.706-2A>G Multiple submitters
- p.Ala204Asp Multiple submitters Ectopic tissue
- p.Ala251Ser Multiple submitters Ectopic tissue
- p.Arg186Cys Multiple submitters Ectopic tissue
- p.Arg196Cys Multiple submitters Ectopic tissue
- p.Arg196His Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Arg272Ter Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Arg303Ter Multiple submitters Inborn genetic diseases
- p.Arg39Ter Multiple submitters Inborn genetic diseases
- p.Arg78Cys Multiple submitters Ectopic tissue
- p.Arg78His Multiple submitters
- p.Arg78Leu Multiple submitters Ectopic tissue
- p.Gln160fs Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Gln169Ter Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Gln235Ter Multiple submitters
- p.Gln261Ter Multiple submitters Ectopic tissue
- p.Glu137Ter Multiple submitters Ectopic tissue
- p.Leu228fs Multiple submitters Abnormal cortical gyration
- p.Lys180Glu Multiple submitters Ectopic tissue
- p.Pro191Arg Multiple submitters Ectopic tissue
- p.Tyr229fs Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- c.1045-2A>G Single submitter Ectopic tissue
- c.226_234delCGTTTTCGCins2 Single submitter Abnormal cortical gyration
- c.364+1del Single submitter
- c.365-1G>T Single submitter
- c.367del Single submitter Ectopic tissue
- c.705+1del Single submitter Subcortical laminar heterotopia, X-linked
- c.-22-345_326del Single submitter Inborn genetic diseases
- p.Arg102Gly Single submitter
- p.Arg102Ser Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Arg11_Asp12insTer Single submitter
- p.Arg178Gly Single submitter Ectopic tissue
- p.Arg196Gly Single submitter Ectopic tissue
- p.Arg19Ter Single submitter Ectopic tissue
- p.Arg76Gly Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Arg89Gln Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Arg89Pro Single submitter Ectopic tissue
- p.Arg89Ter Single submitter Ectopic tissue
- p.Asn131del Single submitter Ectopic tissue
- p.Asn94Asp Single submitter Abnormal cortical gyration
- p.Asp247del Single submitter Ectopic tissue
- p.Asp81Ter Single submitter congenital nervous system disorder
- p.Gln160Ter Single submitter Ectopic tissue
- p.Gln291Ter Single submitter Inborn genetic diseases
- p.Gln44Ter Single submitter Ectopic tissue
- p.Glu120fs Single submitter
- p.Glu216Ter Single submitter
- p.Glu255Ter Single submitter
- p.Gly100Val Single submitter Ectopic tissue
- p.Gly114fs Single submitter Abnormal cortical gyration
- p.Gly61Glu Single submitter Ectopic tissue
- p.Gly67Glu Single submitter
- p.His7_Phe8insTer Single submitter Abnormal cortical gyration
- p.Ile104Phe Single submitter Ectopic tissue
- p.Ile214Thr Single submitter Ectopic tissue
- p.Ile218fs Single submitter Ectopic tissue
- p.Ile68fs Single submitter
- p.Leu119fs Single submitter Subcortical laminar heterotopia, X-linked
- p.Leu162fs Single submitter subcortical band heterotopia
- p.Leu228Pro Single submitter Ectopic tissue
- p.Leu43Ser Single submitter Ectopic tissue
- p.Leu43Trp Single submitter
- p.Leu91Pro Single submitter Ectopic tissue
- p.Leu97Arg Single submitter Ectopic tissue
- p.Lys13fs Single submitter
- p.Lys151Glu Single submitter Ectopic tissue
- p.Lys151Ter Single submitter Ectopic tissue
- p.Lys174Glu Single submitter Ectopic tissue
- p.Lys193fs Single submitter Ectopic tissue
- p.Lys227fs Single submitter Ectopic tissue
- p.Lys256Ter Single submitter Ectopic tissue
- p.Lys285Ter Single submitter Ectopic tissue
- p.Lys50Asn Single submitter Ectopic tissue
- p.Lys51fs Single submitter Ectopic tissue
- p.Met156fs Single submitter
- p.Met1Thr Single submitter Ectopic tissue
- p.Phe176fs Single submitter Abnormal cortical gyration
- p.Pro29fs Single submitter Abnormal cortical gyration
- p.Ser129Leu Single submitter Ectopic tissue
- p.Ser165fs Single submitter Ectopic tissue
- p.Ser32Asn Single submitter Ectopic tissue ⚠
- p.Ser73Phe Single submitter Ectopic tissue
- p.Ser92fs Single submitter
- p.Thr139fs Single submitter
- p.Thr14fs Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Thr203Ala Single submitter Ectopic tissue
- p.Thr203Arg Single submitter neurodevelopmental disorder
- p.Thr203Lys Single submitter Ectopic tissue
- p.Thr293fs Single submitter Abnormal cortical gyration
- p.Thr42fs Single submitter Ectopic tissue
- p.Tyr138Cys Single submitter Ectopic tissue
- p.Tyr138His Single submitter Ectopic tissue
- p.Tyr229_Gly233dup Single submitter Abnormal cortical gyration
- p.Tyr259Ter Single submitter
- p.Tyr64Asp Single submitter
- p.Tyr64Ter Single submitter
- p.Tyr70Ter Single submitter Ectopic tissue
- p.Val101Met Single submitter Ectopic tissue
- p.Val210fs Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Val210Phe Single submitter Ectopic tissue
- p.Val224fs Single submitter Ectopic tissue
- c.808+1G>A No assertion criteria Subcortical laminar heterotopia, X-linked
- p.Ala71Ser No assertion criteria Subcortical laminar heterotopia, X-linked
- p.Arg59Leu No assertion criteria Subcortical laminar heterotopia, X-linked
- p.Arg89Gly No assertion criteria Subcortical laminar heterotopia, X-linked
- p.Asp12fs No assertion criteria Subcortical laminar heterotopia, X-linked
- p.Gln261fs No assertion criteria Abnormal cerebral morphology
- p.Leu231fs No assertion criteria Subcortical laminar heterotopia, X-linked
- p.Tyr125His No assertion criteria Subcortical laminar heterotopia, X-linked
Pathogenic/Likely pathogenic 10
- c.809-1G>A Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Arg178Cys Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Arg186Leu Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Arg192Trp Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Arg59His Multiple submitters Ectopic tissue
- p.Arg76Cys Multiple submitters Ectopic tissue
- p.Asp62Asn Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Pro179Arg Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Val182Phe Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- p.Lys180Asn No assertion criteria
Likely pathogenic 41
- p.Leu199Pro Multiple submitters Ectopic tissue
- p.Pro179His Multiple submitters lissencephaly type 1 due to doublecortin gene mutation
- c.364+1G>A Single submitter
- c.705_705+12del Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Ala251Asp Single submitter
- p.Arg178His Single submitter
- p.Arg258Pro Single submitter Ectopic tissue
- p.Arg56Leu Single submitter
- p.Arg56Pro Single submitter Ectopic tissue
- p.Asn96Lys Single submitter fucosidosis
- p.Asp267fs Single submitter
- p.Asp62Gly Single submitter Ectopic tissue
- p.Cys127Tyr Single submitter Ectopic tissue
- p.Gly100Arg Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Gly100Glu Single submitter Ectopic tissue
- p.Gly253Arg Single submitter
- p.His205Leu Single submitter Ectopic tissue
- p.Ile113Phe Single submitter Ectopic tissue
- p.Ile184Asn Single submitter Ectopic tissue
- p.Lys201Ter Single submitter
- p.Phe242Ile Single submitter Ectopic tissue
- p.Phe249Cys Single submitter Ectopic tissue
- p.Phe57_Gly61delinsLeu Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Phe57Cys Single submitter Ectopic tissue
- p.Phe57fs Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Phe65Leu Single submitter Ectopic tissue
- p.Pro191Leu Single submitter
- p.Pro191Thr Single submitter Ectopic tissue
- p.Pro353Ser Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Ser128Phe Single submitter
- p.Thr183Ile Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Thr222Ile Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Thr230Pro Single submitter Ectopic tissue
- p.Tyr105dup Single submitter Abnormal cortical gyration
- p.Tyr64Asn Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Tyr64Cys Single submitter Ectopic tissue
- p.Val101Gly Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Val126Asp Single submitter Ectopic tissue
- p.Ala251Pro No assertion criteria DCX-related disorder
- p.Asp263Gly No assertion criteria lissencephaly type 1 due to doublecortin gene mutation
- p.Leu97Val No assertion criteria lissencephaly spectrum disorders
Conflicting classifications of pathogenicity 16
- c.706-2794G>A Single submitter lissencephaly type 1 due to doublecortin gene mutation
- c.-22-364C>T Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Ala71Thr Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Arg102Cys Single submitter Ectopic tissue ⚠
- p.Arg102His Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Arg178Leu Single submitter Ectopic tissue ⚠
- p.Arg186His Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Arg196Ser Single submitter Ectopic tissue ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg303Gln Single submitter Inborn genetic diseases ⚠
- p.Arg63Cys Single submitter Ectopic tissue ⚠
- p.Gly122Arg Single submitter Ectopic tissue ⚠
- p.Gly223Arg Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Leu356fs Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Ser47Arg Single submitter DCX-related disorder ⚠
- p.Thr88Met Single submitter ⚠
Benign 11
- c.1044+132G>C Multiple submitters
- c.705+29G>A Multiple submitters
- c.809-9T>C Multiple submitters
- p.Thr222= Multiple submitters Inborn genetic diseases
- c.1044+234G>A Single submitter
- c.1044+4T>C Single submitter
- c.1045-14T>C Single submitter
- c.705+19T>A Single submitter
- c.808+284C>G Single submitter
- c.-22-312_-22-306del Single submitter
- p.Thr336= Single submitter
Benign/Likely benign 10
- c.705+48A>G Multiple submitters
- c.706-4A>G Multiple submitters Inborn genetic diseases
- c.947-46T>C Multiple submitters
- p.Ala286Ser Multiple submitters Inborn genetic diseases
- p.Ala316= Multiple submitters Inborn genetic diseases
- p.Arg196= Multiple submitters Inborn genetic diseases
- p.Asn143= Multiple submitters
- p.Asn312= Multiple submitters Inborn genetic diseases
- p.Ile113= Multiple submitters
- p.Ser32= Multiple submitters Inborn genetic diseases
Likely benign 32
- p.Asn317= Multiple submitters Inborn genetic diseases
- p.Ser359= Multiple submitters Inborn genetic diseases
- c.365-22_365-20dup Single submitter
- c.705+95C>T Single submitter
- c.808+224C>T Single submitter
- c.946+275C>G Single submitter
- c.-22-404A>G Single submitter
- c.-22-435G>A Single submitter
- c.-22-498G>A Single submitter
- c.*273C>T Single submitter
- p.Ala163Ser Single submitter Inborn genetic diseases
- p.Arg102= Single submitter
- p.Arg111= Single submitter
- p.Arg171= Single submitter
- p.Arg258= Single submitter Inborn genetic diseases
- p.Asn149= Single submitter
- p.Asp315= Single submitter
- p.Asp9= Single submitter
- p.Gly122= Single submitter
- p.Gly318= Single submitter Inborn genetic diseases
- p.Leu231= Single submitter
- p.Lys202= Single submitter
- p.Lys345= Single submitter
- p.Pro27= Single submitter Inborn genetic diseases
- p.Ser279= Single submitter Inborn genetic diseases
- p.Ser28= Single submitter Inborn genetic diseases
- p.Ser361= Single submitter
- p.Thr289= Single submitter
- p.Tyr259= Single submitter
- p.Val225= Single submitter Inborn genetic diseases
- c.-22-395G>A No assertion criteria DCX-related disorder
- c.-22-558T>G No assertion criteria DCX-related disorder
Uncertain significance 97
- p.Ala295Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg302Cys Multiple submitters DCX-related disorder ⚠
- p.Asp313Asn Multiple submitters ⚠
- p.Cys35Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly283Ser Multiple submitters lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Ile107Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro298Ser Multiple submitters ⚠
- p.Ser147Pro Multiple submitters lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Ser359Leu Multiple submitters ⚠
- p.Thr40Ile Multiple submitters ⚠
- p.Val136Leu Multiple submitters lissencephaly type 1 due to doublecortin gene mutation ⚠
- c.809-3C>T Single submitter
- c.809-5C>T Single submitter DCX-related disorder
- c.946+4588G>T Single submitter lissencephaly type 1 due to doublecortin gene mutation
- c.-22-336T>G Single submitter
- c.-22-366C>T Single submitter
- c.-22-387T>G Single submitter lissencephaly type 1 due to doublecortin gene mutation
- c.-22-394_-22-391delinsGTTTCCTCACACATCTGTTT Single submitter
- c.-22-491A>G Single submitter
- c.-22-521G>A Single submitter
- p.Ala251Thr Single submitter ⚠
- p.Ala286Val Single submitter Inborn genetic diseases ⚠
- p.Ala52Asp Single submitter Inborn genetic diseases ⚠
- p.Arg178= Single submitter
- p.Arg192Gln Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Arg196Leu Single submitter ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg22Trp Single submitter ⚠
- p.Arg344Gln Single submitter intellectual disability ⚠
- p.Arg344Pro Single submitter ⚠
- p.Arg344Trp Single submitter ⚠
- p.Asn141Asp Single submitter ⚠
- p.Asn143Ile Single submitter ⚠
- p.Asn17Thr Single submitter Inborn genetic diseases ⚠
- p.Asn200Tyr Single submitter ⚠
- p.Asp12Gly Single submitter ⚠
- p.Asp130Gly Single submitter ⚠
- p.Asp262Gly Single submitter ⚠
- p.Asp263Asn Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Asp267Gly Single submitter ⚠
- p.Asp309Asn Single submitter genetic developmental and epileptic encephalopathy ⚠
- p.Asp349His Single submitter ⚠
- p.Cys238Arg Single submitter ⚠
- p.Gln209His Single submitter ⚠
- p.Glu120Lys Single submitter ⚠
- p.Glu172Gln Single submitter ⚠
- p.Glu2Lys Single submitter ⚠
- p.Gly188Arg Single submitter ⚠
- p.Gly363Arg Single submitter ⚠
- p.His205Asp Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Ile185Asn Single submitter ⚠
- p.Ile214Val Single submitter ⚠
- p.Leu119Arg Single submitter ⚠
- p.Leu199Arg Single submitter ⚠
- p.Leu211His Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Leu356= Single submitter
- p.Leu46Pro Single submitter ⚠
- p.Leu84= Single submitter
- p.Lys190Glu Single submitter ⚠
- p.Lys202del Single submitter lissencephaly type 1 due to doublecortin gene mutation
- p.Lys202Glu Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Lys226Thr Single submitter ⚠
- p.Lys227Thr Single submitter Inborn genetic diseases ⚠
- p.Lys256Gln Single submitter ⚠
- p.Lys256Glu Single submitter ⚠
- p.Lys292Glu Single submitter ⚠
- p.Lys53Arg Single submitter Inborn genetic diseases ⚠
- p.Lys54Asn Single submitter ⚠
- p.Phe176Cys Single submitter ⚠
- p.Phe249Ser Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Phe80Leu Single submitter ⚠
- p.Pro278Ala Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Pro284Leu Single submitter Inborn genetic diseases ⚠
- p.Pro288Ser Single submitter ⚠
- p.Pro29Leu Single submitter ⚠
- p.Ser124Asn Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Ser297Arg Single submitter Inborn genetic diseases ⚠
- p.Ser297Thr Single submitter ⚠
- p.Ser325Thr Single submitter ⚠
- p.Ser32Arg Single submitter ⚠
- p.Ser339Arg Single submitter Inborn genetic diseases ⚠
- p.Ser339Asn Single submitter ⚠
- p.Thr152Ser Single submitter ⚠
- p.Thr281Pro Single submitter ⚠
- p.Thr319Ala Single submitter ⚠
- p.Thr88Arg Single submitter ⚠
- p.Trp146Cys Single submitter ⚠
- p.Val136Met Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Val148Gly Single submitter ⚠
- p.Val177Gly Single submitter lissencephaly type 1 due to doublecortin gene mutation ⚠
- p.Val182Asp Single submitter ⚠
- p.Val197Met Single submitter intellectual disability ⚠
- c.-22-494G>T No assertion criteria
- p.Asn173Ser No assertion criteria ⚠
- p.Lys256Asn No assertion criteria DCX-related disorder ⚠