DLG1 — 129 ClinVar variants
All ClinVar germline DLG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
9 Benign · 17 Likely benign · 103 Uncertain significance
Full DLG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DLG1 p.His120Arg
Uncertain significance
Multiple submitters
DLG1-related disorder
- DLG1 c.484-11849C>T Uncertain significance Single submitter
- DLG1 c.484-11885G>C Uncertain significance Single submitter
- DLG1 c.484-11903G>C Uncertain significance Single submitter
- DLG1 c.484-11927C>T Uncertain significance Single submitter
- DLG1 p.Ala889Thr Uncertain significance Single submitter
- DLG1 p.Arg528Gln Uncertain significance Single submitter
- DLG1 p.Arg632Thr Uncertain significance Single submitter
- DLG1 p.Arg833His Uncertain significance Single submitter
- DLG1 p.Asn127Lys Uncertain significance Single submitter
- DLG1 p.Asn396Lys Uncertain significance Single submitter
- DLG1 p.Asp172Glu Uncertain significance Single submitter
- DLG1 p.Asp172Gly Uncertain significance Single submitter
- DLG1 p.Asp234Gly Uncertain significance Single submitter
- DLG1 p.Asp587Ala Uncertain significance Single submitter
- DLG1 p.Asp633Gly Uncertain significance Single submitter
- DLG1 p.Asp761Asn Uncertain significance Single submitter
-
DLG1 p.Gln669His
Uncertain significance
Single submitter
DLG1-related disorder
- DLG1 p.Gln772His Uncertain significance Single submitter
- DLG1 p.Glu144Lys Uncertain significance Single submitter
- DLG1 p.Glu353Ala Uncertain significance Single submitter
- DLG1 p.Glu850Lys Uncertain significance Single submitter
- DLG1 p.Gly405Ser Uncertain significance Single submitter
- DLG1 p.Gly450Arg Uncertain significance Single submitter
- DLG1 p.Gly566Val Uncertain significance Single submitter
- DLG1 p.His136Asp Uncertain significance Single submitter
- DLG1 p.His13Gln Uncertain significance Single submitter
- DLG1 p.His156Arg Uncertain significance Single submitter
- DLG1 p.His156Tyr Uncertain significance Single submitter
- DLG1 p.Ile160Met Uncertain significance Single submitter
- DLG1 p.Ile508Val Uncertain significance Single submitter
- DLG1 p.Ile768Thr Uncertain significance Single submitter
- DLG1 p.Ile815Thr Uncertain significance Single submitter
- DLG1 p.Ile827Val Uncertain significance Single submitter
- DLG1 p.Ile84Asn Uncertain significance Single submitter
- DLG1 p.Ile860Val Uncertain significance Single submitter
- DLG1 p.Leu142Val Uncertain significance Single submitter
- DLG1 p.Lys575Arg Uncertain significance Single submitter
- DLG1 p.Lys5Arg Uncertain significance Single submitter
-
DLG1 p.Lys611Ile
Uncertain significance
Single submitter
DLG1-related disorder
- DLG1 p.Lys71Glu Uncertain significance Single submitter
- DLG1 p.Phe576Cys Uncertain significance Single submitter
- DLG1 p.Phe576Ser Uncertain significance Single submitter
- DLG1 p.Pro165Ala Uncertain significance Single submitter
- DLG1 p.Pro279Thr Uncertain significance Single submitter
- DLG1 p.Pro568Ser Uncertain significance Single submitter
- DLG1 p.Pro98Gln Uncertain significance Single submitter
- DLG1 p.Ser104Gly Uncertain significance Single submitter
- DLG1 p.Ser173Ile Uncertain significance Single submitter
- DLG1 p.Ser484Gly Uncertain significance Single submitter
- DLG1 p.Ser629Cys Uncertain significance Single submitter
- DLG1 p.Ser89Thr Uncertain significance Single submitter
- DLG1 p.Thr25Ala Uncertain significance Single submitter
- DLG1 p.Thr373Ala Uncertain significance Single submitter
- DLG1 p.Thr441Arg Uncertain significance Single submitter
- DLG1 p.Thr631Met Uncertain significance Single submitter
- DLG1 p.Thr672Ala Uncertain significance Single submitter
- DLG1 p.Thr93Ala Uncertain significance Single submitter
- DLG1 p.Val249Ile Uncertain significance Single submitter
- DLG1 p.Val435Leu Uncertain significance Single submitter
- DLG1 p.Val506Ala Uncertain significance Single submitter
- DLG1 p.Val58Leu Uncertain significance Single submitter
- DLG1 p.Val695Glu Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- DLG1 p.Arg252His Uncertain significance Single submitter
- DLG1 p.Arg252Leu Uncertain significance Single submitter
- DLG1 p.Arg544Gln Uncertain significance Single submitter
- DLG1 p.Arg715Lys Uncertain significance Single submitter
- DLG1 p.Asn775His Uncertain significance Single submitter
- DLG1 p.Asn775Ser Uncertain significance Single submitter
- DLG1 p.Asn775Thr Uncertain significance Single submitter
- DLG1 p.Asp51Glu Uncertain significance Single submitter
- DLG1 p.Asp603Asn Uncertain significance Single submitter
- DLG1 p.Asp62Tyr Uncertain significance Single submitter
- DLG1 p.Asp677Asn Uncertain significance Single submitter
- DLG1 p.Asp864Asn Uncertain significance Single submitter
- DLG1 p.Gln811Arg Uncertain significance Single submitter
- DLG1 p.Glu16Gly Uncertain significance Single submitter
- DLG1 p.Glu787Lys Uncertain significance Single submitter
- DLG1 p.Ile205Val Uncertain significance Single submitter
- DLG1 p.Ile226Val Uncertain significance Single submitter
- DLG1 p.Ile34Val Uncertain significance Single submitter
- DLG1 p.Ile40Val Uncertain significance Single submitter
- DLG1 p.Ile461Val Uncertain significance Single submitter
-
DLG1 p.Ile877Leu
Uncertain significance
Single submitter
DLG1-related disorder
- DLG1 p.Leu543Phe Uncertain significance Single submitter
- DLG1 p.Lys275Asn Uncertain significance Single submitter
- DLG1 p.Lys890Asn Uncertain significance Single submitter
- DLG1 p.Lys892Asn Uncertain significance Single submitter
- DLG1 p.Ser399Arg Uncertain significance Single submitter
- DLG1 p.Ser43Asn Uncertain significance Single submitter
- DLG1 p.Ser673Pro Uncertain significance Single submitter
- DLG1 p.Val434Leu Uncertain significance Single submitter
- DLG1 p.Val706Leu Likely benign Single submitter
-
DLG1 p.Arg683Cys
Likely benign
No assertion criteria
DLG1-related disorder
-
DLG1 p.Arg786Gln
Benign
No assertion criteria
DLG1-related disorder
-
DLG1 p.Pro888Leu
Benign
No assertion criteria
DLG1-related disorder
-
DLG1 p.Ser362Cys
Likely benign
No assertion criteria
DLG1-related disorder
All DLG1 variants
Benign 9
- p.Ala262= Multiple submitters
- p.Asp633Glu Multiple submitters
- p.Ser470= Multiple submitters
- p.Val167= Multiple submitters
- c.1165+4059dup Single submitter
- p.Ala262Val No assertion criteria DLG1-related disorder
- p.Arg786Gln No assertion criteria DLG1-related disorder ⚠
- p.Lys874= No assertion criteria DLG1-related disorder
- p.Pro888Leu No assertion criteria DLG1-related disorder ⚠
Likely benign 17
- c.1165+4112G>A Single submitter
- c.2484-4G>A Single submitter
- c.2575+9C>T Single submitter
- p.Val706Leu Single submitter ⚠
- c.1546+9A>G No assertion criteria DLG1-related disorder
- c.483+10834C>T No assertion criteria DLG1-related disorder
- c.483+10856A>G No assertion criteria DLG1-related disorder
- c.483+10859C>T No assertion criteria DLG1-related disorder
- c.484-11853C>T No assertion criteria DLG1-related disorder
- p.Arg683Cys No assertion criteria DLG1-related disorder ⚠
- p.Gln111= No assertion criteria DLG1-related disorder
- p.Gly302= No assertion criteria DLG1-related disorder
- p.His397= No assertion criteria DLG1-related disorder
- p.Leu339= No assertion criteria DLG1-related disorder
- p.Ser362Cys No assertion criteria DLG1-related disorder ⚠
- p.Ser800= No assertion criteria DLG1-related disorder
- p.Val344Ile No assertion criteria DLG1-related disorder
Uncertain significance 103
- p.His120Arg Multiple submitters DLG1-related disorder ⚠
- c.484-11849C>T Single submitter ⚠
- c.484-11885G>C Single submitter ⚠
- c.484-11903G>C Single submitter ⚠
- c.484-11927C>T Single submitter ⚠
- p.Ala667Thr Single submitter
- p.Ala667Val Single submitter
- p.Ala889Thr Single submitter ⚠
- p.Arg252His Single submitter ⚠
- p.Arg252Leu Single submitter ⚠
- p.Arg528Gln Single submitter ⚠
- p.Arg544Gln Single submitter ⚠
- p.Arg632Thr Single submitter ⚠
- p.Arg715Lys Single submitter ⚠
- p.Arg833His Single submitter ⚠
- p.Asn127Lys Single submitter ⚠
- p.Asn396Lys Single submitter ⚠
- p.Asn775His Single submitter ⚠
- p.Asn775Ser Single submitter ⚠
- p.Asn775Thr Single submitter ⚠
- p.Asp172Glu Single submitter ⚠
- p.Asp172Gly Single submitter ⚠
- p.Asp234Gly Single submitter ⚠
- p.Asp51Glu Single submitter ⚠
- p.Asp587Ala Single submitter ⚠
- p.Asp603Asn Single submitter ⚠
- p.Asp62Tyr Single submitter ⚠
- p.Asp633Gly Single submitter ⚠
- p.Asp666Glu Single submitter
- p.Asp677Asn Single submitter ⚠
- p.Asp761Asn Single submitter ⚠
- p.Asp864Asn Single submitter ⚠
- p.Gln669His Single submitter DLG1-related disorder ⚠
- p.Gln772His Single submitter ⚠
- p.Gln811Arg Single submitter ⚠
- p.Glu144Lys Single submitter ⚠
- p.Glu16Gly Single submitter ⚠
- p.Glu353Ala Single submitter ⚠
- p.Glu787Lys Single submitter ⚠
- p.Glu844Gly Single submitter
- p.Glu850Lys Single submitter ⚠
- p.Gly405Ser Single submitter ⚠
- p.Gly450Arg Single submitter ⚠
- p.Gly566Val Single submitter ⚠
- p.His136Asp Single submitter ⚠
- p.His13Gln Single submitter ⚠
- p.His156Arg Single submitter ⚠
- p.His156Tyr Single submitter ⚠
- p.Ile160Met Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Ile226Val Single submitter ⚠
- p.Ile34Thr Single submitter
- p.Ile34Val Single submitter ⚠
- p.Ile40Val Single submitter ⚠
- p.Ile461Val Single submitter ⚠
- p.Ile508Val Single submitter ⚠
- p.Ile768Thr Single submitter ⚠
- p.Ile815Thr Single submitter ⚠
- p.Ile827Val Single submitter ⚠
- p.Ile84Asn Single submitter ⚠
- p.Ile860Val Single submitter ⚠
- p.Ile877Leu Single submitter DLG1-related disorder ⚠
- p.Leu142Val Single submitter ⚠
- p.Leu45fs Single submitter
- p.Leu543Phe Single submitter ⚠
- p.Leu646Arg Single submitter
- p.Lys275Asn Single submitter ⚠
- p.Lys575Arg Single submitter ⚠
- p.Lys5Arg Single submitter ⚠
- p.Lys611Ile Single submitter DLG1-related disorder ⚠
- p.Lys71Glu Single submitter ⚠
- p.Lys890Asn Single submitter ⚠
- p.Lys892Asn Single submitter ⚠
- p.Phe576Cys Single submitter ⚠
- p.Phe576Ser Single submitter ⚠
- p.Phe653Tyr Single submitter
- p.Pro165Ala Single submitter ⚠
- p.Pro279Thr Single submitter ⚠
- p.Pro568Ser Single submitter ⚠
- p.Pro98Gln Single submitter ⚠
- p.Ser104Gly Single submitter ⚠
- p.Ser173Ile Single submitter ⚠
- p.Ser399Arg Single submitter ⚠
- p.Ser43Asn Single submitter ⚠
- p.Ser484Gly Single submitter ⚠
- p.Ser629Cys Single submitter ⚠
- p.Ser660Ile Single submitter
- p.Ser665Asn Single submitter
- p.Ser673Pro Single submitter ⚠
- p.Ser89Thr Single submitter ⚠
- p.Thr25Ala Single submitter ⚠
- p.Thr373Ala Single submitter ⚠
- p.Thr441Arg Single submitter ⚠
- p.Thr631Met Single submitter ⚠
- p.Thr672Ala Single submitter ⚠
- p.Thr93Ala Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val434Leu Single submitter ⚠
- p.Val435Leu Single submitter ⚠
- p.Val506Ala Single submitter ⚠
- p.Val58Leu Single submitter ⚠
- p.Val695Glu Single submitter ⚠
- c.2048-22_2048-4del No assertion criteria Mendelian syndromes with cleft lip/palate