DLGAP1 — 139 ClinVar variants
All ClinVar germline DLGAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
13 Benign · 17 Likely benign · 109 Uncertain significance
Full DLGAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DLGAP1 p.Ala173Val Uncertain significance Single submitter
- DLGAP1 p.Ala189Thr Uncertain significance Single submitter
- DLGAP1 p.Ala302Val Uncertain significance Single submitter
- DLGAP1 p.Ala734Val Uncertain significance Single submitter
- DLGAP1 p.Ala753Thr Uncertain significance Single submitter
- DLGAP1 p.Ala93Thr Uncertain significance Single submitter
- DLGAP1 p.Ala941Thr Uncertain significance Single submitter
- DLGAP1 p.Ala941Val Uncertain significance Single submitter
- DLGAP1 p.Ala96Thr Uncertain significance Single submitter
- DLGAP1 p.Arg187Pro Uncertain significance Single submitter
- DLGAP1 p.Arg289Gln Uncertain significance Single submitter
- DLGAP1 p.Arg29Cys Uncertain significance Single submitter
- DLGAP1 p.Arg496Trp Uncertain significance Single submitter
- DLGAP1 p.Arg688Leu Uncertain significance Single submitter
- DLGAP1 p.Arg791Pro Uncertain significance Single submitter
- DLGAP1 p.Arg804Gln Uncertain significance Single submitter
- DLGAP1 p.Arg819Gln Uncertain significance Single submitter
- DLGAP1 p.Arg8Cys Uncertain significance Single submitter
- DLGAP1 p.Arg8His Uncertain significance Single submitter
- DLGAP1 p.Asn164Ser Uncertain significance Single submitter
- DLGAP1 p.Asn394Ser Uncertain significance Single submitter
- DLGAP1 p.Asp105Glu Uncertain significance Single submitter
- DLGAP1 p.Asp28Asn Uncertain significance Single submitter
- DLGAP1 p.Asp323Tyr Uncertain significance Single submitter
- DLGAP1 p.Asp424Tyr Uncertain significance Single submitter
- DLGAP1 p.Cys57Arg Uncertain significance Single submitter
- DLGAP1 p.Cys751Phe Uncertain significance Single submitter
- DLGAP1 p.Cys85Tyr Uncertain significance Single submitter
- DLGAP1 p.Gln234Leu Uncertain significance Single submitter
- DLGAP1 p.Gln974Arg Uncertain significance Single submitter
- DLGAP1 p.Glu718Gln Uncertain significance Single submitter
- DLGAP1 p.Glu940Lys Uncertain significance Single submitter
- DLGAP1 p.Gly179Ala Uncertain significance Single submitter
- DLGAP1 p.Gly179Asp Uncertain significance Single submitter
- DLGAP1 p.Gly210Ser Uncertain significance Single submitter
- DLGAP1 p.Gly575Asp Uncertain significance Single submitter
- DLGAP1 p.Gly59Asp Uncertain significance Single submitter
- DLGAP1 p.Gly923Ser Uncertain significance Single submitter
- DLGAP1 p.His10Arg Uncertain significance Single submitter
- DLGAP1 p.His12Gln Uncertain significance Single submitter
- DLGAP1 p.His140Asp Uncertain significance Single submitter
- DLGAP1 p.His790Gln Uncertain significance Single submitter
- DLGAP1 p.Ile214Phe Uncertain significance Single submitter
- DLGAP1 p.Leu237Pro Uncertain significance Single submitter
- DLGAP1 p.Leu905His Uncertain significance Single submitter
- DLGAP1 p.Lys258Arg Uncertain significance Single submitter
- DLGAP1 p.Met224Val Uncertain significance Single submitter
- DLGAP1 p.Met303Val Uncertain significance Single submitter
- DLGAP1 p.Met483Ile Uncertain significance Single submitter
- DLGAP1 p.Met726Leu Uncertain significance Single submitter
- DLGAP1 p.Met886Thr Uncertain significance Single submitter
- DLGAP1 p.Phe53Ser Uncertain significance Single submitter
- DLGAP1 p.Phe796Leu Uncertain significance Single submitter
- DLGAP1 p.Pro272Gln Uncertain significance Single submitter
- DLGAP1 p.Pro365Leu Uncertain significance Single submitter
- DLGAP1 p.Pro516Leu Uncertain significance Single submitter
- DLGAP1 p.Pro517Ser Uncertain significance Single submitter
- DLGAP1 p.Ser134Asn Uncertain significance Single submitter
- DLGAP1 p.Ser219Ala Uncertain significance Single submitter
- DLGAP1 p.Ser308Leu Uncertain significance Single submitter
- DLGAP1 p.Ser452Asn Uncertain significance Single submitter
- DLGAP1 p.Ser514Ala Uncertain significance Single submitter
- DLGAP1 p.Ser5Leu Uncertain significance Single submitter
- DLGAP1 p.Thr261Ala Uncertain significance Single submitter
- DLGAP1 p.Thr271Asn Uncertain significance Single submitter
- DLGAP1 p.Thr326Ile Uncertain significance Single submitter
- DLGAP1 p.Thr551Arg Uncertain significance Single submitter
- DLGAP1 p.Thr759Met Uncertain significance Single submitter
- DLGAP1 p.Tyr178Cys Uncertain significance Single submitter
- DLGAP1 p.Tyr292Cys Uncertain significance Single submitter
- DLGAP1 p.Val128Leu Uncertain significance Single submitter
- DLGAP1 p.Val248Met Uncertain significance Single submitter
- DLGAP1 p.Val320Ile Uncertain significance Single submitter
- DLGAP1 p.Val509Leu Uncertain significance Single submitter
-
DLGAP1 p.Leu269Gln
Uncertain significance
No assertion criteria
DLGAP1-related disorder
-
DLGAP1 p.Thr69Pro
Uncertain significance
No assertion criteria
DLGAP1-related disorder
Predictors split 32
The independent predictors disagree with each other — read with care.
- DLGAP1 p.Ala444Ser Uncertain significance Single submitter
- DLGAP1 p.Ala602Ser Uncertain significance Single submitter
- DLGAP1 p.Arg131Cys Uncertain significance Single submitter
- DLGAP1 p.Arg187Gln Uncertain significance Single submitter
- DLGAP1 p.Arg50Trp Uncertain significance Single submitter
- DLGAP1 p.Arg732His Uncertain significance Single submitter
- DLGAP1 p.Arg816Trp Uncertain significance Single submitter
- DLGAP1 p.Arg832Gln Uncertain significance Single submitter
- DLGAP1 p.Cys259Gly Uncertain significance Single submitter
- DLGAP1 p.Glu461Lys Uncertain significance Single submitter
- DLGAP1 p.Glu470Gln Uncertain significance Single submitter
- DLGAP1 p.Glu825Lys Uncertain significance Single submitter
- DLGAP1 p.Leu283Phe Uncertain significance Single submitter
- DLGAP1 p.Phe460Leu Uncertain significance Single submitter
- DLGAP1 p.Phe674Val Uncertain significance Single submitter
- DLGAP1 p.Phe730Leu Uncertain significance Single submitter
- DLGAP1 p.Pro771Leu Uncertain significance Single submitter
- DLGAP1 p.Pro920Leu Uncertain significance Single submitter
- DLGAP1 p.Ser162Cys Uncertain significance Single submitter
- DLGAP1 p.Ser18Leu Uncertain significance Single submitter
- DLGAP1 p.Ser198Phe Uncertain significance Single submitter
- DLGAP1 p.Ser219Leu Uncertain significance Single submitter
- DLGAP1 p.Ser253Gly Uncertain significance Single submitter
- DLGAP1 p.Ser314Cys Uncertain significance Single submitter
- DLGAP1 p.Ser716Phe Uncertain significance Single submitter
- DLGAP1 p.Ser7Arg Uncertain significance Single submitter
- DLGAP1 p.Thr636Met Uncertain significance Single submitter
- DLGAP1 p.Thr866Asn Uncertain significance Single submitter
- DLGAP1 p.Trp201Arg Uncertain significance Single submitter
- DLGAP1 p.Tyr118Cys Uncertain significance Single submitter
- DLGAP1 p.Tyr123Phe Uncertain significance Single submitter
-
DLGAP1 p.Gly136Ser
Likely benign
No assertion criteria
DLGAP1-related disorder
All DLGAP1 variants
Benign 13
- p.Ala659= Multiple submitters
- p.Pro824= Multiple submitters
- p.Ser296= Multiple submitters
- p.Thr284= Multiple submitters
- p.Thr624= Multiple submitters
- c.957+4508T>C No assertion criteria DLGAP1-related disorder
- c.957+4875G>C No assertion criteria DLGAP1-related disorder
- p.Ala783= No assertion criteria DLGAP1-related disorder
- p.Arg816Gln No assertion criteria DLGAP1-related disorder
- p.Leu797= No assertion criteria DLGAP1-related disorder
- p.Pro517= No assertion criteria DLGAP1-related disorder
- p.Thr361= No assertion criteria DLGAP1-related disorder
- p.Thr530= No assertion criteria DLGAP1-related disorder
Likely benign 17
- p.Ala189= Single submitter
- p.His749= Single submitter
- p.Pro971= Single submitter
- c.1351-3C>T No assertion criteria DLGAP1-related disorder
- c.957+4405C>G No assertion criteria DLGAP1-related disorder
- c.957+4506C>T No assertion criteria DLGAP1-related disorder
- p.Ala19= No assertion criteria DLGAP1-related disorder
- p.Ala478= No assertion criteria DLGAP1-related disorder
- p.Ala871= No assertion criteria DLGAP1-related disorder
- p.Arg115= No assertion criteria DLGAP1-related disorder
- p.Arg287Gln No assertion criteria DLGAP1-related disorder
- p.Arg496= No assertion criteria DLGAP1-related disorder
- p.Cys464= No assertion criteria DLGAP1-related disorder
- p.Glu461= No assertion criteria DLGAP1-related disorder
- p.Gly136Ser No assertion criteria DLGAP1-related disorder ⚠
- p.Leu141= No assertion criteria DLGAP1-related disorder
- p.Pro516= No assertion criteria DLGAP1-related disorder
Uncertain significance 109
- p.Ala173Val Single submitter ⚠
- p.Ala189Thr Single submitter ⚠
- p.Ala302Val Single submitter ⚠
- p.Ala444Ser Single submitter ⚠
- p.Ala602Ser Single submitter ⚠
- p.Ala734Val Single submitter ⚠
- p.Ala753Thr Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Ala941Thr Single submitter ⚠
- p.Ala941Val Single submitter ⚠
- p.Ala96Thr Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg187Gln Single submitter ⚠
- p.Arg187Pro Single submitter ⚠
- p.Arg289Gln Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg496Trp Single submitter ⚠
- p.Arg50Trp Single submitter ⚠
- p.Arg688Leu Single submitter ⚠
- p.Arg732His Single submitter ⚠
- p.Arg791Pro Single submitter ⚠
- p.Arg804Gln Single submitter ⚠
- p.Arg816Trp Single submitter ⚠
- p.Arg819Gln Single submitter ⚠
- p.Arg832Gln Single submitter ⚠
- p.Arg8Cys Single submitter ⚠
- p.Arg8His Single submitter ⚠
- p.Arg976fs Single submitter Inborn genetic diseases
- p.Asn164Ser Single submitter ⚠
- p.Asn394Ser Single submitter ⚠
- p.Asp105Glu Single submitter ⚠
- p.Asp28Asn Single submitter ⚠
- p.Asp323Tyr Single submitter ⚠
- p.Asp424Tyr Single submitter ⚠
- p.Cys259Gly Single submitter ⚠
- p.Cys57Arg Single submitter ⚠
- p.Cys751Phe Single submitter ⚠
- p.Cys85Tyr Single submitter ⚠
- p.Gln234Leu Single submitter ⚠
- p.Gln974Arg Single submitter ⚠
- p.Glu245Ter Single submitter Developmental disorder
- p.Glu461Lys Single submitter ⚠
- p.Glu470Gln Single submitter ⚠
- p.Glu718Gln Single submitter ⚠
- p.Glu825Lys Single submitter ⚠
- p.Glu940Lys Single submitter ⚠
- p.Gly179Ala Single submitter ⚠
- p.Gly179Asp Single submitter ⚠
- p.Gly210Ser Single submitter ⚠
- p.Gly575Asp Single submitter ⚠
- p.Gly59Asp Single submitter ⚠
- p.Gly923Ser Single submitter ⚠
- p.His10Arg Single submitter ⚠
- p.His12Gln Single submitter ⚠
- p.His140Asp Single submitter ⚠
- p.His790Gln Single submitter ⚠
- p.Ile214Phe Single submitter ⚠
- p.Leu237Pro Single submitter ⚠
- p.Leu283Phe Single submitter ⚠
- p.Leu905His Single submitter ⚠
- p.Lys258Arg Single submitter ⚠
- p.Met224Val Single submitter ⚠
- p.Met303Val Single submitter ⚠
- p.Met483Ile Single submitter ⚠
- p.Met726Leu Single submitter ⚠
- p.Met886Thr Single submitter ⚠
- p.Phe460Leu Single submitter ⚠
- p.Phe53Ser Single submitter ⚠
- p.Phe674Val Single submitter ⚠
- p.Phe730Leu Single submitter ⚠
- p.Phe796Leu Single submitter ⚠
- p.Pro272Gln Single submitter ⚠
- p.Pro365Leu Single submitter ⚠
- p.Pro516Leu Single submitter ⚠
- p.Pro517Ser Single submitter ⚠
- p.Pro771Leu Single submitter ⚠
- p.Pro920Leu Single submitter ⚠
- p.Ser134Asn Single submitter ⚠
- p.Ser162Cys Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser198Phe Single submitter ⚠
- p.Ser219Ala Single submitter ⚠
- p.Ser219Leu Single submitter ⚠
- p.Ser253Gly Single submitter ⚠
- p.Ser308Leu Single submitter ⚠
- p.Ser314Cys Single submitter ⚠
- p.Ser452Asn Single submitter ⚠
- p.Ser514Ala Single submitter ⚠
- p.Ser5Leu Single submitter ⚠
- p.Ser716Phe Single submitter ⚠
- p.Ser7Arg Single submitter ⚠
- p.Thr261Ala Single submitter ⚠
- p.Thr271Asn Single submitter ⚠
- p.Thr326Ile Single submitter ⚠
- p.Thr551Arg Single submitter ⚠
- p.Thr636Met Single submitter ⚠
- p.Thr759Met Single submitter ⚠
- p.Thr866Asn Single submitter ⚠
- p.Trp201Arg Single submitter ⚠
- p.Tyr118Cys Single submitter ⚠
- p.Tyr123Phe Single submitter ⚠
- p.Tyr178Cys Single submitter ⚠
- p.Tyr292Cys Single submitter ⚠
- p.Val128Leu Single submitter ⚠
- p.Val248Met Single submitter ⚠
- p.Val320Ile Single submitter ⚠
- p.Val509Leu Single submitter ⚠
- p.Leu269Gln No assertion criteria DLGAP1-related disorder ⚠
- p.Thr69Pro No assertion criteria DLGAP1-related disorder ⚠