DLG4 — 283 ClinVar variants
All ClinVar germline DLG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
56 Pathogenic · 20 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 4 Conflicting · 9 Benign · 1 Benign/Likely benign · 33 Likely benign · 135 Uncertain significance
Full DLG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DLG4 p.Arg455His
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DLG4 p.Asp332Gly
Uncertain significance
Multiple submitters
intellectual developmental disorder 62
-
DLG4 p.Gly198Ser
Uncertain significance
Multiple submitters
intellectual developmental disorder 62
-
DLG4 p.Gly610Val
Uncertain significance
Multiple submitters
intellectual developmental disorder 62
-
DLG4 p.Tyr533Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DLG4 p.Ala105Val Uncertain significance Single submitter
-
DLG4 p.Ala133Glu
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Ala133Val Uncertain significance Single submitter
- DLG4 p.Ala155Val Uncertain significance Single submitter
-
DLG4 p.Ala547Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Arg493Pro Uncertain significance Single submitter
- DLG4 p.Arg568Trp Uncertain significance Single submitter
-
DLG4 p.Arg571Trp
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Asn248Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Asn31Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Asn85Tyr Uncertain significance Single submitter
- DLG4 p.Asp108Gly Uncertain significance Single submitter
- DLG4 p.Asp281Glu Uncertain significance Single submitter
- DLG4 p.Asp357His Uncertain significance Single submitter
-
DLG4 p.Asp406Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Asp549Val Uncertain significance Single submitter
- DLG4 p.Asp90Glu Uncertain significance Single submitter
- DLG4 p.Gln603Arg Uncertain significance Single submitter
- DLG4 p.Glu139Asp Uncertain significance Single submitter
-
DLG4 p.Glu334Lys
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Glu667Gly Uncertain significance Single submitter
- DLG4 p.Gly176Ala Uncertain significance Single submitter
-
DLG4 p.Gly198Val
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Gly335Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Gly430Ser
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Gly512Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Gly74Arg Uncertain significance Single submitter
-
DLG4 p.His477Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.His565Asp
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Ile260Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Ile388Thr Uncertain significance Single submitter
- DLG4 p.Ile488Val Uncertain significance Single submitter
- DLG4 p.Leu349Arg Uncertain significance Single submitter
-
DLG4 p.Leu349Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Lys491Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Phe456Ser Uncertain significance Single submitter
-
DLG4 p.Ser247Asn
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Ser654Phe
Uncertain significance
Single submitter
DLG4-Related Synaptopathy
- DLG4 p.Thr19Lys Uncertain significance Single submitter
-
DLG4 p.Thr289Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Thr566Lys Uncertain significance Single submitter
-
DLG4 p.Thr9Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Val120Ala Uncertain significance Single submitter
- DLG4 p.Val125Met Uncertain significance Single submitter
- DLG4 p.Val158Ile Uncertain significance Single submitter
-
DLG4 p.Val178Ile
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Val531Met Uncertain significance Single submitter
- DLG4 p.Val563Leu Uncertain significance Single submitter
-
DLG4 p.Val613Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 68
The independent predictors disagree with each other — read with care.
-
DLG4 p.Arg455Cys
Uncertain significance
Multiple submitters
DLG4-related disorder
-
DLG4 p.Arg586Gln
Pathogenic
Multiple submitters
intellectual developmental disorder 62
-
DLG4 p.Glu160Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DLG4 p.Ser584Leu Likely benign Multiple submitters
-
DLG4 p.Thr57Ile
Likely benign
Multiple submitters
Inborn genetic diseases
-
DLG4 p.Val297Ala
Likely benign
Multiple submitters
Inborn genetic diseases
- DLG4 p.Val718Ile Benign/Likely benign Multiple submitters
-
DLG4 p.Ala375Val
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Ala677Gly Uncertain significance Single submitter
-
DLG4 p.Arg151Trp
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Arg292Trp Uncertain significance Single submitter
-
DLG4 p.Arg293His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Arg309Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Arg313Gln
Uncertain significance
Single submitter
DLG4-related disorder
- DLG4 p.Arg424Gln Uncertain significance Single submitter
- DLG4 p.Arg424Trp Uncertain significance Single submitter
-
DLG4 p.Arg474Gln
Likely benign
Single submitter
intellectual disability
-
DLG4 p.Arg474Trp
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Arg475Trp Uncertain significance Single submitter
-
DLG4 p.Arg586Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Arg586Trp
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Arg636Leu Uncertain significance Single submitter
- DLG4 p.Arg653His Uncertain significance Single submitter
- DLG4 p.Arg664Gln Uncertain significance Single submitter
-
DLG4 p.Arg70Lys
Uncertain significance
Single submitter
DLG4-related disorder
-
DLG4 p.Arg723Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Asn114Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Asn381Asp
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Asp300Asn
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Gln107Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Gln181Arg Uncertain significance Single submitter
- DLG4 p.Glu127Lys Uncertain significance Single submitter
-
DLG4 p.His565Tyr
Conflicting
Single submitter
intellectual developmental disorder 62
- DLG4 p.Ile307Asn Uncertain significance Single submitter
-
DLG4 p.Ile307Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Ile388Val Uncertain significance Single submitter
-
DLG4 p.Ile389Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Ile599Val Uncertain significance Single submitter
-
DLG4 p.Ile627Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Ile665Thr Uncertain significance Single submitter
-
DLG4 p.Ile691Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Leu118Val
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Lys162Thr Uncertain significance Single submitter
- DLG4 p.Lys544Arg Uncertain significance Single submitter
-
DLG4 p.Lys544Asn
Uncertain significance
Single submitter
intellectual developmental disorder 62
-
DLG4 p.Lys663Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Pro257Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Pro257Ser Uncertain significance Single submitter
-
DLG4 p.Pro26Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Pro288Leu
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Pro714Arg Uncertain significance Single submitter
-
DLG4 p.Ser116Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Ser361Thr Uncertain significance Single submitter
- DLG4 p.Ser418Pro Uncertain significance Single submitter
- DLG4 p.Ser490Gly Uncertain significance Single submitter
-
DLG4 p.Ser513Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DLG4 p.Thr261Arg
Uncertain significance
Single submitter
intellectual developmental disorder 62
- DLG4 p.Thr284Ile Uncertain significance Single submitter
-
DLG4 p.Thr385Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DLG4 p.Thr666Pro Uncertain significance Single submitter
- DLG4 p.Thr67Ala Uncertain significance Single submitter
- DLG4 p.Thr67Ile Uncertain significance Single submitter
- DLG4 p.Tyr240Cys Uncertain significance Single submitter
- DLG4 p.Val223Ile Uncertain significance Single submitter
- DLG4 p.Val476Gly Uncertain significance Single submitter
-
DLG4 p.Ala214Val
Uncertain significance
No assertion criteria
DLG4-related disorder
-
DLG4 p.Thr385Met
Uncertain significance
No assertion criteria
intellectual developmental disorder 62
-
DLG4 p.Val223Ala
Uncertain significance
No assertion criteria
DLG4-related disorder
All DLG4 variants
Pathogenic 56
- p.Arg313Ter Multiple submitters Inborn genetic diseases
- p.Arg368Ter Multiple submitters intellectual developmental disorder 62
- p.Arg399Ter Multiple submitters intellectual developmental disorder 62
- p.Arg516Ter Multiple submitters Inborn genetic diseases
- p.Arg586Gln Multiple submitters intellectual developmental disorder 62 ⚠
- p.Arg617Ter Multiple submitters intellectual developmental disorder 62
- p.Asn114fs Multiple submitters intellectual developmental disorder 62
- p.Gln107Ter Multiple submitters intellectual developmental disorder 62
- p.Gln358Ter Multiple submitters intellectual developmental disorder 62
- p.Glu160Ter Multiple submitters intellectual developmental disorder 62
- p.Glu401Ter Multiple submitters intellectual developmental disorder 62
- p.Glu65Ter Multiple submitters Inborn genetic diseases
- p.Gly109fs Multiple submitters intellectual developmental disorder 62
- p.Gly176fs Multiple submitters intellectual developmental disorder 62
- p.Gly82fs Multiple submitters intellectual developmental disorder 62
- p.Lys202fs Multiple submitters intellectual developmental disorder 62
- p.Lys558Ter Multiple submitters intellectual developmental disorder 62
- p.Phe487fs Multiple submitters intellectual developmental disorder 62
- p.Ser73Ter Multiple submitters intellectual developmental disorder 62
- p.Thr566fs Multiple submitters Neurodevelopmental delay
- p.Trp471Ter Multiple submitters intellectual disability
- p.Trp499Ter Multiple submitters intellectual developmental disorder 62
- p.Tyr264Ter Multiple submitters intellectual developmental disorder 62
- p.Val619fs Multiple submitters intellectual developmental disorder 62
- p.Val692fs Multiple submitters intellectual developmental disorder 62
- c.1184_1186+7del Single submitter
- c.1295_1301+10del Single submitter intellectual developmental disorder 62
- c.1869dupG Single submitter intellectual developmental disorder 62
- c.1976+235C>T Single submitter intellectual developmental disorder 62
- c.1977-2A>G Single submitter
- c.335+1G>A Single submitter Inborn genetic diseases
- c.788-1669_1302-397del Single submitter intellectual developmental disorder 62
- c.788-1G>C Single submitter Neurodevelopmental abnormality
- p.Ala249_Tyr250insTer Single submitter
- p.Asn326fs Single submitter intellectual developmental disorder 62
- p.Asp43fs Single submitter intellectual developmental disorder 62
- p.Asp695Ter Single submitter intellectual developmental disorder 62
- p.Gln266Ter Single submitter intellectual developmental disorder 62
- p.Gln32Ter Single submitter intellectual developmental disorder 62
- p.Gln374Ter Single submitter
- p.Glu65fs Single submitter
- p.Gly169Val Single submitter
- p.Gly49fs Single submitter intellectual developmental disorder 62
- p.His461fs Single submitter intellectual developmental disorder 62
- p.Leu137fs Single submitter intellectual developmental disorder 62
- p.Leu452fs Single submitter
- p.Lys138fs Single submitter
- p.Lys441fs Single submitter intellectual developmental disorder 62
- p.Lys505fs Single submitter intellectual developmental disorder 62
- p.Phe431fs Single submitter
- p.Pro311fs Single submitter intellectual developmental disorder 62
- p.Ser414fs Single submitter Inborn genetic diseases
- p.Tyr240Ter Single submitter intellectual developmental disorder 62
- p.Tyr255Ter Single submitter
- p.Tyr392Ter Single submitter intellectual developmental disorder 62
- p.Val328fs Single submitter intellectual developmental disorder 62
Pathogenic/Likely pathogenic 20
- c.1084-1G>T Multiple submitters intellectual developmental disorder 62
- c.1478+2T>C Multiple submitters intellectual developmental disorder 62
- c.1592-1G>A Multiple submitters intellectual developmental disorder 62
- c.1693+1G>A Multiple submitters intellectual developmental disorder 62
- c.1866+2T>C Multiple submitters intellectual developmental disorder 62
- c.211-2A>G Multiple submitters intellectual developmental disorder 62
- c.787+2T>C Multiple submitters intellectual developmental disorder 62
- p.Ala214= Multiple submitters intellectual developmental disorder 62
- p.Arg309Ter Multiple submitters intellectual developmental disorder 62
- p.Arg496Ter Multiple submitters intellectual developmental disorder 62
- p.Arg497Ter Multiple submitters intellectual developmental disorder 62
- p.Asp186Val Multiple submitters intellectual developmental disorder 62
- p.Asp479Ter Multiple submitters intellectual developmental disorder 62
- p.Cys626Ter Multiple submitters intellectual developmental disorder 62
- p.Glu572fs Multiple submitters Marfanoid habitus and intellectual disability
- p.Gly177Val Multiple submitters intellectual developmental disorder 62
- p.Phe340fs Multiple submitters Marfanoid habitus and intellectual disability
- p.Ser361= Multiple submitters intellectual developmental disorder 62
- p.Thr611Ile Multiple submitters intellectual developmental disorder 62
- p.Tyr50fs Multiple submitters intellectual developmental disorder 62
Likely pathogenic 25
- c.1543+2T>C Multiple submitters Marfanoid habitus and intellectual disability
- c.210+1G>T Multiple submitters intellectual developmental disorder 62
- p.Leu4fs Multiple submitters intellectual developmental disorder 62
- c.1186+2T>G Single submitter intellectual developmental disorder 62
- c.1479-2A>G Single submitter intellectual developmental disorder 62
- c.1591+1G>A Single submitter
- c.1694-18G>A Single submitter intellectual developmental disorder 62
- c.1866+1G>T Single submitter
- c.505+1G>T Single submitter intellectual developmental disorder 62
- c.506-1G>T Single submitter intellectual developmental disorder 62
- c.506-2A>G Single submitter intellectual developmental disorder 62
- c.643-1G>T Single submitter intellectual developmental disorder 62
- p.Arg568Gln Single submitter
- p.Glu334Ter Single submitter intellectual developmental disorder 62
- p.Glu524fs Single submitter intellectual developmental disorder 62
- p.Ile646fs Single submitter intellectual developmental disorder 62
- p.Phe649fs Single submitter intellectual developmental disorder 62
- p.Pro258fs Single submitter intellectual developmental disorder 62
- p.Pro564Ser Single submitter intellectual developmental disorder 62
- p.Ser490fs Single submitter intellectual developmental disorder 62
- p.Ser510fs Single submitter
- p.Trp13Ter Single submitter
- c.210+2del No assertion criteria intellectual developmental disorder 62
- p.Arg497fs No assertion criteria intellectual developmental disorder 62
- p.Pro536Leu No assertion criteria intellectual developmental disorder 62
Conflicting classifications of pathogenicity 4
- c.1478+4_1478+19del Single submitter intellectual developmental disorder 62
- p.Arg455His Single submitter Inborn genetic diseases ⚠
- p.Gly330= Single submitter intellectual developmental disorder 62
- p.His565Tyr Single submitter intellectual developmental disorder 62 ⚠
Benign 9
- c.-1072A>G Expert panel very long chain acyl-CoA dehydrogenase deficiency
- p.Ile389= Multiple submitters intellectual developmental disorder 62
- p.Tyr580= Multiple submitters
- c.30+18G>A Single submitter intellectual developmental disorder 62
- c.-12A>G Single submitter
- p.Pro153= Single submitter
- p.Ser32Gly Single submitter
- p.Glu686= No assertion criteria DLG4-related disorder
- p.Thr482= No assertion criteria DLG4-related disorder
Benign/Likely benign 1
- p.Val718Ile Multiple submitters ⚠
Likely benign 33
- p.Ala132= Multiple submitters
- p.Ser584Leu Multiple submitters ⚠
- p.Ser631= Multiple submitters
- p.Thr57Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val297Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val658= Multiple submitters
- c.1084-10C>G Single submitter
- c.1187-6C>T Single submitter
- c.1694-20G>A Single submitter
- c.506-12C>G Single submitter
- c.787+31A>G Single submitter
- c.96+12C>T Single submitter
- c.97-6A>T Single submitter Inborn genetic diseases
- c.-1G>A Single submitter
- p.Ala249Ser Single submitter Inborn genetic diseases
- p.Arg474Gln Single submitter intellectual disability ⚠
- p.Asn548= Single submitter
- p.Cys445= Single submitter
- p.Gly177= Single submitter
- p.Gly319= Single submitter
- p.Gly541= Single submitter
- p.Gly713= Single submitter
- p.Leu302= Single submitter
- p.Leu540= Single submitter
- p.Pro154= Single submitter
- p.Ser513= Single submitter
- p.Ser553= Single submitter
- p.Tyr439= Single submitter
- p.Tyr523= Single submitter
- c.1516-8C>T No assertion criteria DLG4-related disorder
- c.2068+8C>G No assertion criteria DLG4-related disorder
- p.Ala133= No assertion criteria DLG4-related disorder
- p.Ala435= No assertion criteria DLG4-related disorder
Uncertain significance 135
- p.Arg455Cys Multiple submitters DLG4-related disorder ⚠
- p.Asp332Gly Multiple submitters intellectual developmental disorder 62 ⚠
- p.Glu160Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly198Ser Multiple submitters intellectual developmental disorder 62 ⚠
- p.Gly610Val Multiple submitters intellectual developmental disorder 62 ⚠
- p.Tyr533Cys Multiple submitters Inborn genetic diseases ⚠
- c.1478+1G>T Single submitter
- c.159+13G>A Single submitter intellectual developmental disorder 62
- c.1592-2A>C Single submitter intellectual developmental disorder 62
- c.20-1G>C Single submitter Inborn genetic diseases
- c.2069-10C>A Single submitter intellectual developmental disorder 62
- c.30+1G>A Single submitter
- c.787+105A>G Single submitter
- c.787+4A>G Single submitter intellectual developmental disorder 62
- c.788-2dup Single submitter
- c.96+6C>A Single submitter intellectual developmental disorder 62
- c.96+97A>G Single submitter
- p.Ala105Val Single submitter ⚠
- p.Ala133Glu Single submitter intellectual developmental disorder 62 ⚠
- p.Ala133Val Single submitter ⚠
- p.Ala155Val Single submitter ⚠
- p.Ala23Ser Single submitter
- p.Ala375Val Single submitter intellectual developmental disorder 62 ⚠
- p.Ala37Thr Single submitter
- p.Ala547Thr Single submitter Inborn genetic diseases ⚠
- p.Ala677Gly Single submitter ⚠
- p.Arg151Trp Single submitter intellectual developmental disorder 62 ⚠
- p.Arg292Trp Single submitter ⚠
- p.Arg293His Single submitter Inborn genetic diseases ⚠
- p.Arg309Gln Single submitter Inborn genetic diseases ⚠
- p.Arg313Gln Single submitter DLG4-related disorder ⚠
- p.Arg424Gln Single submitter ⚠
- p.Arg424Trp Single submitter ⚠
- p.Arg474Trp Single submitter intellectual developmental disorder 62 ⚠
- p.Arg475Trp Single submitter ⚠
- p.Arg493Pro Single submitter ⚠
- p.Arg568Trp Single submitter ⚠
- p.Arg571Trp Single submitter intellectual developmental disorder 62 ⚠
- p.Arg586Gly Single submitter Inborn genetic diseases ⚠
- p.Arg586Trp Single submitter intellectual developmental disorder 62 ⚠
- p.Arg636Leu Single submitter ⚠
- p.Arg653His Single submitter ⚠
- p.Arg664Gln Single submitter ⚠
- p.Arg70Lys Single submitter DLG4-related disorder ⚠
- p.Arg721Ter Single submitter
- p.Arg723Gly Single submitter Inborn genetic diseases ⚠
- p.Arg9Gly Single submitter
- p.Asn114Ser Single submitter Inborn genetic diseases ⚠
- p.Asn248Ser Single submitter Inborn genetic diseases ⚠
- p.Asn31Ser Single submitter Inborn genetic diseases ⚠
- p.Asn381Asp Single submitter intellectual developmental disorder 62 ⚠
- p.Asn85Tyr Single submitter ⚠
- p.Asp108Gly Single submitter ⚠
- p.Asp281Glu Single submitter ⚠
- p.Asp300Asn Single submitter intellectual developmental disorder 62 ⚠
- p.Asp357His Single submitter ⚠
- p.Asp406Asn Single submitter Inborn genetic diseases ⚠
- p.Asp40Val Single submitter
- p.Asp549Val Single submitter ⚠
- p.Asp90Glu Single submitter ⚠
- p.Gln107Arg Single submitter Inborn genetic diseases ⚠
- p.Gln181Arg Single submitter ⚠
- p.Gln53fs Single submitter Inborn genetic diseases
- p.Gln603Arg Single submitter ⚠
- p.Glu127Lys Single submitter ⚠
- p.Glu139Asp Single submitter ⚠
- p.Glu334Lys Single submitter intellectual developmental disorder 62 ⚠
- p.Glu667Gly Single submitter ⚠
- p.Gly176Ala Single submitter ⚠
- p.Gly198Val Single submitter intellectual developmental disorder 62 ⚠
- p.Gly335Val Single submitter Inborn genetic diseases ⚠
- p.Gly430Ser Single submitter intellectual developmental disorder 62 ⚠
- p.Gly512Ala Single submitter Inborn genetic diseases ⚠
- p.Gly74Arg Single submitter ⚠
- p.His477Tyr Single submitter Inborn genetic diseases ⚠
- p.His565Asp Single submitter intellectual developmental disorder 62 ⚠
- p.Ile260Val Single submitter Inborn genetic diseases ⚠
- p.Ile307Asn Single submitter ⚠
- p.Ile307Val Single submitter Inborn genetic diseases ⚠
- p.Ile388Thr Single submitter ⚠
- p.Ile388Val Single submitter ⚠
- p.Ile389Phe Single submitter Inborn genetic diseases ⚠
- p.Ile488Val Single submitter ⚠
- p.Ile599Val Single submitter ⚠
- p.Ile627Val Single submitter Inborn genetic diseases ⚠
- p.Ile665Thr Single submitter ⚠
- p.Ile691Val Single submitter Inborn genetic diseases ⚠
- p.Leu118Val Single submitter intellectual developmental disorder 62 ⚠
- p.Leu349Arg Single submitter ⚠
- p.Leu349Phe Single submitter Inborn genetic diseases ⚠
- p.Leu42Arg Single submitter
- p.Lys162Thr Single submitter ⚠
- p.Lys491Thr Single submitter Inborn genetic diseases ⚠
- p.Lys544Arg Single submitter ⚠
- p.Lys544Asn Single submitter intellectual developmental disorder 62 ⚠
- p.Lys663Asn Single submitter Inborn genetic diseases ⚠
- p.Met1Arg Single submitter intellectual developmental disorder 62
- p.Phe456Ser Single submitter ⚠
- p.Phe684fs Single submitter intellectual developmental disorder 62
- p.Pro257Leu Single submitter Inborn genetic diseases ⚠
- p.Pro257Ser Single submitter ⚠
- p.Pro26Leu Single submitter Inborn genetic diseases ⚠
- p.Pro288Leu Single submitter intellectual developmental disorder 62 ⚠
- p.Pro291_Arg292insProPro Single submitter
- p.Pro714Arg Single submitter ⚠
- p.Ser116Asn Single submitter Inborn genetic diseases ⚠
- p.Ser247Asn Single submitter intellectual developmental disorder 62 ⚠
- p.Ser361Thr Single submitter ⚠
- p.Ser418Pro Single submitter ⚠
- p.Ser490Gly Single submitter ⚠
- p.Ser513Leu Single submitter Inborn genetic diseases ⚠
- p.Ser654Phe Single submitter DLG4-Related Synaptopathy ⚠
- p.Thr19Lys Single submitter ⚠
- p.Thr261Arg Single submitter intellectual developmental disorder 62 ⚠
- p.Thr284Ile Single submitter ⚠
- p.Thr289Ala Single submitter Inborn genetic diseases ⚠
- p.Thr385Lys Single submitter Inborn genetic diseases ⚠
- p.Thr566Lys Single submitter ⚠
- p.Thr666Pro Single submitter ⚠
- p.Thr67Ala Single submitter ⚠
- p.Thr67Ile Single submitter ⚠
- p.Thr9Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr240Cys Single submitter ⚠
- p.Val120Ala Single submitter ⚠
- p.Val125Met Single submitter ⚠
- p.Val158Ile Single submitter ⚠
- p.Val178Ile Single submitter intellectual developmental disorder 62 ⚠
- p.Val223Ile Single submitter ⚠
- p.Val476Gly Single submitter ⚠
- p.Val531Met Single submitter ⚠
- p.Val563Leu Single submitter ⚠
- p.Val613Ile Single submitter Inborn genetic diseases ⚠
- p.Ala214Val No assertion criteria DLG4-related disorder ⚠
- p.Thr385Met No assertion criteria intellectual developmental disorder 62 ⚠
- p.Val223Ala No assertion criteria DLG4-related disorder ⚠