DLG5 — 314 ClinVar variants
All ClinVar germline DLG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 264 flagged for review →
3 Pathogenic · 1 Conflicting · 16 Benign · 2 Benign/Likely benign · 31 Likely benign · 261 Uncertain significance
Full DLG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 264
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.
Predictors lean, ClinVar uncertain 174
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 174
- DLG5 p.Ala1050Thr Uncertain significance Single submitter
- DLG5 p.Ala1153Thr Uncertain significance Single submitter
- DLG5 p.Ala1216Thr Uncertain significance Single submitter
- DLG5 p.Ala1259Asp Uncertain significance Single submitter
- DLG5 p.Ala1329Thr Uncertain significance Single submitter
- DLG5 p.Ala1333Ser Uncertain significance Single submitter
- DLG5 p.Ala1447Val Uncertain significance Single submitter
- DLG5 p.Ala1490Glu Uncertain significance Single submitter
- DLG5 p.Ala1493Pro Uncertain significance Single submitter
- DLG5 p.Ala1527Ser Uncertain significance Single submitter
- DLG5 p.Ala1892Asp Uncertain significance Single submitter
- DLG5 p.Ala1892Thr Uncertain significance Single submitter
- DLG5 p.Ala378Val Uncertain significance Single submitter
- DLG5 p.Ala476Val Uncertain significance Single submitter
- DLG5 p.Ala516Val Uncertain significance Single submitter
- DLG5 p.Ala601Thr Uncertain significance Single submitter
- DLG5 p.Ala756Val Uncertain significance Single submitter
- DLG5 p.Ala998Thr Uncertain significance Single submitter
- DLG5 p.Arg1072His Uncertain significance Single submitter
- DLG5 p.Arg1111His Uncertain significance Single submitter
- DLG5 p.Arg1120Gly Uncertain significance Single submitter
- DLG5 p.Arg1120Pro Uncertain significance Single submitter
- DLG5 p.Arg1162Gln Uncertain significance Single submitter
- DLG5 p.Arg1200His Uncertain significance Single submitter
- DLG5 p.Arg1203Gly Uncertain significance Single submitter
- DLG5 p.Arg1439Gln Uncertain significance Single submitter
- DLG5 p.Arg154Gly Uncertain significance Single submitter
- DLG5 p.Arg154Leu Uncertain significance Single submitter
- DLG5 p.Arg1686Trp Uncertain significance Single submitter
- DLG5 p.Arg1690Gln Uncertain significance Single submitter
- DLG5 p.Arg1814Gln Uncertain significance Single submitter
- DLG5 p.Arg256Gln Uncertain significance Single submitter
- DLG5 p.Arg42Leu Uncertain significance Single submitter
- DLG5 p.Arg563His Uncertain significance Single submitter
- DLG5 p.Arg595Gln Uncertain significance Single submitter
- DLG5 p.Arg903His Uncertain significance Single submitter
- DLG5 p.Arg911His Uncertain significance Single submitter
- DLG5 p.Arg913Gln Uncertain significance Single submitter
- DLG5 p.Asn1813Lys Uncertain significance Single submitter
- DLG5 p.Asn300Ser Uncertain significance Single submitter
- DLG5 p.Asn332Ser Uncertain significance Single submitter
- DLG5 p.Asp1082Gly Uncertain significance Single submitter
- DLG5 p.Asp1492Gly Uncertain significance Single submitter
- DLG5 p.Asp1531Gly Uncertain significance Single submitter
- DLG5 p.Asp1572Asn Uncertain significance Single submitter
- DLG5 p.Asp1735Tyr Uncertain significance Single submitter
- DLG5 p.Asp392His Uncertain significance Single submitter
- DLG5 p.Asp660Glu Uncertain significance Single submitter
- DLG5 p.Asp666Glu Uncertain significance Single submitter
- DLG5 p.Asp729Glu Uncertain significance Single submitter
- DLG5 p.Cys1299Ser Uncertain significance Single submitter
- DLG5 p.Cys926Phe Uncertain significance Single submitter
- DLG5 p.Gln1219Leu Uncertain significance Single submitter
- DLG5 p.Gln140Glu Uncertain significance Single submitter
- DLG5 p.Gln140His Uncertain significance Single submitter
- DLG5 p.Gln1454Pro Uncertain significance Single submitter
- DLG5 p.Gln1863Leu Uncertain significance Single submitter
- DLG5 p.Gln237Lys Uncertain significance Single submitter
- DLG5 p.Gln394Arg Uncertain significance Single submitter
- DLG5 p.Gln598Glu Uncertain significance Single submitter
- DLG5 p.Gln785Arg Uncertain significance Single submitter
- DLG5 p.Glu1029Asp Uncertain significance Single submitter
-
DLG5 p.Glu1144Gly
Uncertain significance
Single submitter
DLG5-related disorder
- DLG5 p.Glu1151Lys Uncertain significance Single submitter
- DLG5 p.Glu1245Lys Uncertain significance Single submitter
- DLG5 p.Glu1346Gly Uncertain significance Single submitter
- DLG5 p.Glu1347Lys Uncertain significance Single submitter
- DLG5 p.Glu1475Lys Uncertain significance Single submitter
- DLG5 p.Glu1641Lys Uncertain significance Single submitter
- DLG5 p.Glu297Lys Uncertain significance Single submitter
- DLG5 p.Gly1083Arg Uncertain significance Single submitter
- DLG5 p.Gly1288Ala Uncertain significance Single submitter
- DLG5 p.Gly1476Val Uncertain significance Single submitter
- DLG5 p.Gly280Asp Uncertain significance Single submitter
- DLG5 p.Gly280Ser Uncertain significance Single submitter
- DLG5 p.Gly280Val Uncertain significance Single submitter
- DLG5 p.Gly906Glu Uncertain significance Single submitter
- DLG5 p.Gly90Arg Uncertain significance Single submitter
- DLG5 p.Gly924Asp Uncertain significance Single submitter
-
DLG5 p.Gly994Asp
Uncertain significance
Single submitter
DLG5-related disorder
- DLG5 p.His1062Tyr Uncertain significance Single submitter
- DLG5 p.His1159Arg Uncertain significance Single submitter
- DLG5 p.His1250Arg Uncertain significance Single submitter
- DLG5 p.His1432Arg Uncertain significance Single submitter
- DLG5 p.His1695Arg Uncertain significance Single submitter
- DLG5 p.His1695Asp Uncertain significance Single submitter
- DLG5 p.His172Arg Uncertain significance Single submitter
- DLG5 p.His172Asn Uncertain significance Single submitter
- DLG5 p.His1832Arg Uncertain significance Single submitter
- DLG5 p.His1841Arg Uncertain significance Single submitter
- DLG5 p.His381Arg Uncertain significance Single submitter
- DLG5 p.His869Tyr Uncertain significance Single submitter
- DLG5 p.Ile1022Val Uncertain significance Single submitter
- DLG5 p.Ile1309Thr Uncertain significance Single submitter
- DLG5 p.Ile1646Val Uncertain significance Single submitter
- DLG5 p.Ile1825Val Uncertain significance Single submitter
- DLG5 p.Ile1855Asn Uncertain significance Single submitter
- DLG5 p.Ile807Val Uncertain significance Single submitter
- DLG5 p.Leu1192Pro Uncertain significance Single submitter
- DLG5 p.Leu1255Arg Uncertain significance Single submitter
- DLG5 p.Leu149Pro Uncertain significance Single submitter
- DLG5 p.Leu27Val Uncertain significance Single submitter
- DLG5 p.Lys1376Arg Uncertain significance Single submitter
- DLG5 p.Lys1536Glu Uncertain significance Single submitter
- DLG5 p.Lys1589Arg Uncertain significance Single submitter
- DLG5 p.Lys1784Arg Uncertain significance Single submitter
- DLG5 p.Lys178Glu Uncertain significance Single submitter
- DLG5 p.Lys1843Glu Uncertain significance Single submitter
- DLG5 p.Lys301Arg Uncertain significance Single submitter
- DLG5 p.Lys520Thr Uncertain significance Single submitter
- DLG5 p.Lys592Asn Uncertain significance Single submitter
- DLG5 p.Lys816Arg Uncertain significance Single submitter
- DLG5 p.Lys832Thr Uncertain significance Single submitter
- DLG5 p.Lys870Arg Uncertain significance Single submitter
- DLG5 p.Met1246Ile Uncertain significance Single submitter
- DLG5 p.Met1903Ile Uncertain significance Single submitter
- DLG5 p.Met307Val Uncertain significance Single submitter
- DLG5 p.Met951Thr Uncertain significance Single submitter
- DLG5 p.Phe1884Leu Uncertain significance Single submitter
- DLG5 p.Pro1003Ser Uncertain significance Single submitter
- DLG5 p.Pro1003Thr Uncertain significance Single submitter
- DLG5 p.Pro1009Thr Uncertain significance Single submitter
- DLG5 p.Pro1043Leu Uncertain significance Single submitter
- DLG5 p.Pro1048Leu Uncertain significance Single submitter
- DLG5 p.Pro1060Ser Uncertain significance Single submitter
- DLG5 p.Pro1140Arg Uncertain significance Single submitter
- DLG5 p.Pro1140Ser Uncertain significance Single submitter
- DLG5 p.Pro1167Arg Uncertain significance Single submitter
- DLG5 p.Pro1184Ala Uncertain significance Single submitter
- DLG5 p.Pro1195Ser Uncertain significance Single submitter
- DLG5 p.Pro1211Ser Uncertain significance Single submitter
- DLG5 p.Pro1223Ala Uncertain significance Single submitter
- DLG5 p.Pro131Leu Uncertain significance Single submitter
- DLG5 p.Pro1461Leu Uncertain significance Single submitter
- DLG5 p.Pro1469Ala Uncertain significance Single submitter
- DLG5 p.Pro825Leu Uncertain significance Single submitter
- DLG5 p.Pro861Gln Uncertain significance Single submitter
- DLG5 p.Pro967Ser Uncertain significance Single submitter
- DLG5 p.Pro97Arg Uncertain significance Single submitter
- DLG5 p.Ser1314Pro Uncertain significance Single submitter
- DLG5 p.Ser1404Asn Uncertain significance Single submitter
- DLG5 p.Ser1435Gly Uncertain significance Single submitter
- DLG5 p.Ser1662Cys Uncertain significance Single submitter
- DLG5 p.Ser204Asn Uncertain significance Single submitter
- DLG5 p.Ser231Asn Uncertain significance Single submitter
- DLG5 p.Ser231Gly Uncertain significance Single submitter
- DLG5 p.Ser801Leu Uncertain significance Single submitter
- DLG5 p.Ser943Thr Uncertain significance Single submitter
- DLG5 p.Thr104Ala Uncertain significance Single submitter
- DLG5 p.Thr1183Ala Uncertain significance Single submitter
Predictors split 89
The independent predictors disagree with each other — read with care.
- DLG5 p.Ala1682Val Uncertain significance Single submitter
- DLG5 p.Ala1872Gly Uncertain significance Single submitter
- DLG5 p.Ala32Thr Uncertain significance Single submitter
- DLG5 p.Ala763Gly Uncertain significance Single submitter
- DLG5 p.Arg1018Lys Uncertain significance Single submitter
- DLG5 p.Arg1111Cys Uncertain significance Single submitter
- DLG5 p.Arg1112Pro Uncertain significance Single submitter
- DLG5 p.Arg1180Gln Uncertain significance Single submitter
- DLG5 p.Arg1230Cys Uncertain significance Single submitter
- DLG5 p.Arg1439Trp Uncertain significance Single submitter
- DLG5 p.Arg154Trp Uncertain significance Single submitter
- DLG5 p.Arg1556Trp Uncertain significance Single submitter
- DLG5 p.Arg158Trp Uncertain significance Single submitter
- DLG5 p.Arg1604Gln Uncertain significance Single submitter
- DLG5 p.Arg1648Cys Uncertain significance Single submitter
- DLG5 p.Arg166Cys Uncertain significance Single submitter
- DLG5 p.Arg1690Trp Uncertain significance Single submitter
- DLG5 p.Arg1730Gln Uncertain significance Single submitter
- DLG5 p.Arg1730Trp Uncertain significance Single submitter
- DLG5 p.Arg1766Ile Uncertain significance Single submitter
- DLG5 p.Arg1793Trp Uncertain significance Single submitter
- DLG5 p.Arg239Gly Uncertain significance Single submitter
- DLG5 p.Arg256Trp Uncertain significance Single submitter
- DLG5 p.Arg337Cys Uncertain significance Single submitter
- DLG5 p.Arg337His Uncertain significance Single submitter
- DLG5 p.Arg553Cys Uncertain significance Single submitter
- DLG5 p.Arg553His Uncertain significance Single submitter
- DLG5 p.Arg569Cys Uncertain significance Single submitter
- DLG5 p.Arg569His Uncertain significance Single submitter
- DLG5 p.Arg595Trp Uncertain significance Single submitter
-
DLG5 p.Arg913Trp
Uncertain significance
Single submitter
DLG5-related disorder
- DLG5 p.Arg981Cys Uncertain significance Single submitter
- DLG5 p.Arg981His Uncertain significance Single submitter
- DLG5 p.Asn1758Ile Uncertain significance Single submitter
- DLG5 p.Asn573Tyr Uncertain significance Single submitter
- DLG5 p.Asp487Asn Uncertain significance Single submitter
- DLG5 p.Gln1579His Uncertain significance Single submitter
- DLG5 p.Gln1579Leu Uncertain significance Single submitter
- DLG5 p.Gln1647Glu Uncertain significance Single submitter
- DLG5 p.Gln571Arg Uncertain significance Single submitter
- DLG5 p.Glu1033Lys Uncertain significance Single submitter
- DLG5 p.Glu1290Lys Uncertain significance Single submitter
- DLG5 p.Glu496Gly Uncertain significance Single submitter
- DLG5 p.Gly1371Ser Uncertain significance Single submitter
- DLG5 p.Gly1540Arg Uncertain significance Single submitter
- DLG5 p.Gly1699Arg Uncertain significance Single submitter
- DLG5 p.Gly1796Ser Uncertain significance Single submitter
- DLG5 p.Gly294Arg Uncertain significance Single submitter
- DLG5 p.Gly753Ala Uncertain significance Single submitter
- DLG5 p.His1695Tyr Uncertain significance Single submitter
- DLG5 p.Leu1145Phe Uncertain significance Single submitter
- DLG5 p.Leu137Phe Uncertain significance Single submitter
- DLG5 p.Leu1680Val Uncertain significance Single submitter
- DLG5 p.Lys1763Glu Uncertain significance Single submitter
- DLG5 p.Lys1807Glu Uncertain significance Single submitter
- DLG5 p.Lys1843Arg Uncertain significance Single submitter
- DLG5 p.Lys433Asn Uncertain significance Single submitter
- DLG5 p.Lys751Ile Uncertain significance Single submitter
- DLG5 p.Phe895Leu Uncertain significance Single submitter
- DLG5 p.Pro1012Thr Uncertain significance Single submitter
- DLG5 p.Pro1015Leu Uncertain significance Single submitter
- DLG5 p.Pro1066His Uncertain significance Single submitter
- DLG5 p.Pro1121Leu Uncertain significance Single submitter
- DLG5 p.Pro1359Ala Uncertain significance Single submitter
- DLG5 p.Pro649Leu Uncertain significance Single submitter
- DLG5 p.Ser1021Tyr Uncertain significance Single submitter
- DLG5 p.Ser1100Phe Uncertain significance Single submitter
- DLG5 p.Ser1438Phe Uncertain significance Single submitter
- DLG5 p.Ser1456Arg Uncertain significance Single submitter
- DLG5 p.Ser1613Asn Uncertain significance Single submitter
- DLG5 p.Ser1895Arg Uncertain significance Single submitter
- DLG5 p.Ser576Gly Uncertain significance Single submitter
- DLG5 p.Ser791Phe Uncertain significance Single submitter
- DLG5 p.Ser866Phe Uncertain significance Single submitter
- DLG5 p.Ser893Arg Uncertain significance Single submitter
- DLG5 p.Ser894Cys Uncertain significance Single submitter
- DLG5 p.Ser932Cys Likely benign Single submitter
- DLG5 p.Thr1378Ile Uncertain significance Single submitter
- DLG5 p.Thr1420Ala Uncertain significance Single submitter
- DLG5 p.Thr1479Asn Uncertain significance Single submitter
- DLG5 p.Thr361Met Uncertain significance Single submitter
- DLG5 p.Val1351Met Uncertain significance Single submitter
- DLG5 p.Val1431Met Likely benign Single submitter
- DLG5 p.Val1514Met Uncertain significance Single submitter
- DLG5 p.Val1574Phe Uncertain significance Single submitter
- DLG5 p.Val1751Met Uncertain significance Single submitter
- DLG5 p.Val1803Met Uncertain significance Single submitter
- DLG5 p.Val671Ile Uncertain significance Single submitter
-
DLG5 p.Val762Ile
Likely benign
No assertion criteria
DLG5-related disorder
All DLG5 variants
Pathogenic 3
- p.Lys52Ter Single submitter
- p.Arg1027fs No assertion criteria Yuksel-Vogel-Bauer syndrome
- p.Arg821Ter No assertion criteria Yuksel-Vogel-Bauer syndrome
Conflicting classifications of pathogenicity 1
- p.Arg1067His Single submitter ⚠
Benign 16
- c.1622+8G>A Multiple submitters
- p.Ala1447= Multiple submitters
- p.Ala1600Val Multiple submitters
- p.Ala1738Thr Multiple submitters
- p.Asp1554= Multiple submitters
- p.Gln1869= Multiple submitters
- p.Glu624Gln Multiple submitters
- p.Leu1739Pro Multiple submitters
- p.Pro1048= Multiple submitters
- c.1881+10_1881+12del Single submitter
- c.3672-5C>T Single submitter
- p.Ala388= Single submitter
- p.Ala822= Single submitter
- p.Asp1672= Single submitter
- p.Leu590= Single submitter
- p.Pro997= Single submitter
Benign/Likely benign 2
- p.Ala741= Multiple submitters
- p.Arg782His Multiple submitters
Likely benign 31
- p.Asp1607Asn Multiple submitters
- p.His830Tyr Multiple submitters
- c.5656+10C>T Single submitter
- p.Ala1212Val Single submitter
- p.Ala1738Ser Single submitter
- p.Ala469Val Single submitter
- p.Ala750= Single submitter
- p.Arg1648= Single submitter
- p.Arg541= Single submitter
- p.Asp902Glu Single submitter
- p.Gly944= Single submitter
- p.Ile1820= Single submitter
- p.Ile279= Single submitter
- p.Leu952= Single submitter
- p.Ser1032= Single submitter
- p.Ser1049= Single submitter
- p.Ser1795= Single submitter
- p.Ser932Cys Single submitter ⚠
- p.Thr1458Ala Single submitter
- p.Thr842= Single submitter
- p.Thr849Ala Single submitter
- p.Val1287Met Single submitter
- p.Val1294Leu Single submitter
- p.Val1431Met Single submitter ⚠
- p.Val1555Met Single submitter
- p.Val1574Ile Single submitter
- p.Val928Ala Single submitter
- p.Ala130Val No assertion criteria DLG5-related disorder
- p.Arg321Gln No assertion criteria
- p.Arg890His No assertion criteria DLG5-related disorder
- p.Val762Ile No assertion criteria DLG5-related disorder ⚠
Uncertain significance 261
- p.Ala1050Thr Single submitter ⚠
- p.Ala1153Thr Single submitter ⚠
- p.Ala1216Thr Single submitter ⚠
- p.Ala1259Asp Single submitter ⚠
- p.Ala1329Thr Single submitter ⚠
- p.Ala1333Ser Single submitter ⚠
- p.Ala1447Val Single submitter ⚠
- p.Ala1490Glu Single submitter ⚠
- p.Ala1493Pro Single submitter ⚠
- p.Ala1527Ser Single submitter ⚠
- p.Ala1682Val Single submitter ⚠
- p.Ala1872Gly Single submitter ⚠
- p.Ala1892Asp Single submitter ⚠
- p.Ala1892Thr Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Ala378Val Single submitter ⚠
- p.Ala476Val Single submitter ⚠
- p.Ala516Val Single submitter ⚠
- p.Ala601Thr Single submitter ⚠
- p.Ala756Val Single submitter ⚠
- p.Ala763Gly Single submitter ⚠
- p.Ala998Thr Single submitter ⚠
- p.Arg1018Lys Single submitter ⚠
- p.Arg1072His Single submitter ⚠
- p.Arg1111Cys Single submitter ⚠
- p.Arg1111His Single submitter ⚠
- p.Arg1112Pro Single submitter ⚠
- p.Arg1120Gly Single submitter ⚠
- p.Arg1120Pro Single submitter ⚠
- p.Arg1162Gln Single submitter ⚠
- p.Arg1180Gln Single submitter ⚠
- p.Arg1200His Single submitter ⚠
- p.Arg1203Gly Single submitter ⚠
- p.Arg1230Cys Single submitter ⚠
- p.Arg1439Gln Single submitter ⚠
- p.Arg1439Trp Single submitter ⚠
- p.Arg154Gly Single submitter ⚠
- p.Arg154Leu Single submitter ⚠
- p.Arg154Trp Single submitter ⚠
- p.Arg1556Trp Single submitter ⚠
- p.Arg158Trp Single submitter ⚠
- p.Arg1604Gln Single submitter ⚠
- p.Arg1648Cys Single submitter ⚠
- p.Arg166Cys Single submitter ⚠
- p.Arg1686Trp Single submitter ⚠
- p.Arg1690Gln Single submitter ⚠
- p.Arg1690Trp Single submitter ⚠
- p.Arg1730Gln Single submitter ⚠
- p.Arg1730Trp Single submitter ⚠
- p.Arg1766Ile Single submitter ⚠
- p.Arg1793Trp Single submitter ⚠
- p.Arg1814Gln Single submitter ⚠
- p.Arg239Gly Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg337Cys Single submitter ⚠
- p.Arg337His Single submitter ⚠
- p.Arg42Leu Single submitter ⚠
- p.Arg553Cys Single submitter ⚠
- p.Arg553His Single submitter ⚠
- p.Arg563His Single submitter ⚠
- p.Arg569Cys Single submitter ⚠
- p.Arg569His Single submitter ⚠
- p.Arg595Gln Single submitter ⚠
- p.Arg595Trp Single submitter ⚠
- p.Arg903His Single submitter ⚠
- p.Arg911His Single submitter ⚠
- p.Arg913Gln Single submitter ⚠
- p.Arg913Trp Single submitter DLG5-related disorder ⚠
- p.Arg981Cys Single submitter ⚠
- p.Arg981His Single submitter ⚠
- p.Asn1758Ile Single submitter ⚠
- p.Asn1813Lys Single submitter ⚠
- p.Asn300Ser Single submitter ⚠
- p.Asn332Ser Single submitter ⚠
- p.Asn573Tyr Single submitter ⚠
- p.Asp1082Gly Single submitter ⚠
- p.Asp1492Gly Single submitter ⚠
- p.Asp1531Gly Single submitter ⚠
- p.Asp1572Asn Single submitter ⚠
- p.Asp1735Tyr Single submitter ⚠
- p.Asp392His Single submitter ⚠
- p.Asp487Asn Single submitter ⚠
- p.Asp660Glu Single submitter ⚠
- p.Asp666Glu Single submitter ⚠
- p.Asp729Glu Single submitter ⚠
- p.Cys1299Ser Single submitter ⚠
- p.Cys926Phe Single submitter ⚠
- p.Gln1219Leu Single submitter ⚠
- p.Gln140Glu Single submitter ⚠
- p.Gln140His Single submitter ⚠
- p.Gln1454Pro Single submitter ⚠
- p.Gln1579His Single submitter ⚠
- p.Gln1579Leu Single submitter ⚠
- p.Gln1647Glu Single submitter ⚠
- p.Gln1863Leu Single submitter ⚠
- p.Gln237Lys Single submitter ⚠
- p.Gln394Arg Single submitter ⚠
- p.Gln571Arg Single submitter ⚠
- p.Gln598Glu Single submitter ⚠
- p.Gln785Arg Single submitter ⚠
- p.Glu1029Asp Single submitter ⚠
- p.Glu1033Lys Single submitter ⚠
- p.Glu1144Gly Single submitter DLG5-related disorder ⚠
- p.Glu1151Lys Single submitter ⚠
- p.Glu1245Lys Single submitter ⚠
- p.Glu1290Lys Single submitter ⚠
- p.Glu1346Gly Single submitter ⚠
- p.Glu1347Lys Single submitter ⚠
- p.Glu1475Lys Single submitter ⚠
- p.Glu1641Lys Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Glu496Gly Single submitter ⚠
- p.Gly1083Arg Single submitter ⚠
- p.Gly1288Ala Single submitter ⚠
- p.Gly1371Ser Single submitter ⚠
- p.Gly1476Val Single submitter ⚠
- p.Gly1540Arg Single submitter ⚠
- p.Gly1699Arg Single submitter ⚠
- p.Gly1796Ser Single submitter ⚠
- p.Gly280Asp Single submitter ⚠
- p.Gly280Ser Single submitter ⚠
- p.Gly280Val Single submitter ⚠
- p.Gly294Arg Single submitter ⚠
- p.Gly753Ala Single submitter ⚠
- p.Gly906Glu Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.Gly924Asp Single submitter ⚠
- p.Gly994Asp Single submitter DLG5-related disorder ⚠
- p.His1062Tyr Single submitter ⚠
- p.His1159Arg Single submitter ⚠
- p.His1250Arg Single submitter ⚠
- p.His1432Arg Single submitter ⚠
- p.His1695Arg Single submitter ⚠
- p.His1695Asp Single submitter ⚠
- p.His1695Tyr Single submitter ⚠
- p.His172Arg Single submitter ⚠
- p.His172Asn Single submitter ⚠
- p.His1832Arg Single submitter ⚠
- p.His1841Arg Single submitter ⚠
- p.His381Arg Single submitter ⚠
- p.His869Tyr Single submitter ⚠
- p.Ile1022Val Single submitter ⚠
- p.Ile1309Thr Single submitter ⚠
- p.Ile1646Val Single submitter ⚠
- p.Ile1825Val Single submitter ⚠
- p.Ile1855Asn Single submitter ⚠
- p.Ile807Val Single submitter ⚠
- p.Leu1145Phe Single submitter ⚠
- p.Leu1192Pro Single submitter ⚠
- p.Leu1255Arg Single submitter ⚠
- p.Leu137Phe Single submitter ⚠
- p.Leu149Pro Single submitter ⚠
- p.Leu1680Val Single submitter ⚠
- p.Leu27Val Single submitter ⚠
- p.Lys1376Arg Single submitter ⚠
- p.Lys1536Glu Single submitter ⚠
- p.Lys1589Arg Single submitter ⚠
- p.Lys1763Glu Single submitter ⚠
- p.Lys1784Arg Single submitter ⚠
- p.Lys178Glu Single submitter ⚠
- p.Lys1807Glu Single submitter ⚠
- p.Lys1843Arg Single submitter ⚠
- p.Lys1843Glu Single submitter ⚠
- p.Lys301Arg Single submitter ⚠
- p.Lys433Asn Single submitter ⚠
- p.Lys520Thr Single submitter ⚠
- p.Lys592Asn Single submitter ⚠
- p.Lys751Ile Single submitter ⚠
- p.Lys816Arg Single submitter ⚠
- p.Lys832Thr Single submitter ⚠
- p.Lys870Arg Single submitter ⚠
- p.Met1246Ile Single submitter ⚠
- p.Met1903Ile Single submitter ⚠
- p.Met307Val Single submitter ⚠
- p.Met951Thr Single submitter ⚠
- p.Phe1884Leu Single submitter ⚠
- p.Phe895Leu Single submitter ⚠
- p.Pro1003Ser Single submitter ⚠
- p.Pro1003Thr Single submitter ⚠
- p.Pro1009Thr Single submitter ⚠
- p.Pro1012Thr Single submitter ⚠
- p.Pro1015Leu Single submitter ⚠
- p.Pro1043Leu Single submitter ⚠
- p.Pro1048Leu Single submitter ⚠
- p.Pro1060Ser Single submitter ⚠
- p.Pro1066His Single submitter ⚠
- p.Pro1121Leu Single submitter ⚠
- p.Pro1140Arg Single submitter ⚠
- p.Pro1140Ser Single submitter ⚠
- p.Pro1167Arg Single submitter ⚠
- p.Pro1184Ala Single submitter ⚠
- p.Pro1195Ser Single submitter ⚠
- p.Pro1211Ser Single submitter ⚠
- p.Pro1223Ala Single submitter ⚠
- p.Pro131Leu Single submitter ⚠
- p.Pro1359Ala Single submitter ⚠
- p.Pro1461Leu Single submitter ⚠
- p.Pro1469Ala Single submitter ⚠
- p.Pro649Leu Single submitter ⚠
- p.Pro825Leu Single submitter ⚠
- p.Pro861Gln Single submitter ⚠
- p.Pro967Ser Single submitter ⚠
- p.Pro97Arg Single submitter ⚠
- p.Ser1021Tyr Single submitter ⚠
- p.Ser1100Phe Single submitter ⚠
- p.Ser1314Pro Single submitter ⚠
- p.Ser1404Asn Single submitter ⚠
- p.Ser1435Gly Single submitter ⚠
- p.Ser1438Phe Single submitter ⚠
- p.Ser1456Arg Single submitter ⚠
- p.Ser1613Asn Single submitter ⚠
- p.Ser1662Cys Single submitter ⚠
- p.Ser1895Arg Single submitter ⚠
- p.Ser204Asn Single submitter ⚠
- p.Ser231Asn Single submitter ⚠
- p.Ser231Gly Single submitter ⚠
- p.Ser576Gly Single submitter ⚠
- p.Ser787_Leu788insTer Single submitter
- p.Ser791Phe Single submitter ⚠
- p.Ser801Leu Single submitter ⚠
- p.Ser866Phe Single submitter ⚠
- p.Ser893Arg Single submitter ⚠
- p.Ser894Cys Single submitter ⚠
- p.Ser943Thr Single submitter ⚠
- p.Thr104Ala Single submitter ⚠
- p.Thr1183Ala Single submitter ⚠
- p.Thr1378Ile Single submitter ⚠
- p.Thr1420Ala Single submitter ⚠
- p.Thr1452Pro Single submitter ⚠
- p.Thr1479Asn Single submitter ⚠
- p.Thr171Met Single submitter ⚠
- p.Thr361Met Single submitter ⚠
- p.Thr387Met Single submitter ⚠
- p.Thr409Ala Single submitter ⚠
- p.Thr483Met Single submitter ⚠
- p.Thr627Met Single submitter ⚠
- p.Thr844Ala Single submitter ⚠
- p.Thr849Met Single submitter ⚠
- p.Tyr1077His Single submitter ⚠
- p.Tyr1243Ser Single submitter ⚠
- p.Tyr1344His Single submitter ⚠
- p.Tyr1564Cys Single submitter ⚠
- p.Tyr1834Phe Single submitter ⚠
- p.Tyr1883His Single submitter ⚠
- p.Tyr990His Single submitter ⚠
- p.Val1055Ala Single submitter ⚠
- p.Val1055Met Single submitter ⚠
- p.Val1351Met Single submitter ⚠
- p.Val1502Ile Single submitter ⚠
- p.Val1514Met Single submitter ⚠
- p.Val1542Met Single submitter ⚠
- p.Val1574Phe Single submitter ⚠
- p.Val1751Met Single submitter ⚠
- p.Val1803Met Single submitter ⚠
- p.Val495Ile Single submitter ⚠
- p.Val643Ala Single submitter ⚠
- p.Val671Ile Single submitter ⚠
- p.Val795Ala Single submitter ⚠
- p.Val908Leu Single submitter ⚠
- p.His1829Pro No assertion criteria ⚠