DSG3 — 197 ClinVar variants
All ClinVar germline DSG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →
1 Pathogenic · 41 Benign · 11 Likely benign · 144 Uncertain significance
Full DSG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 148
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 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DSG3 p.Ala129Val Uncertain significance Single submitter
- DSG3 p.Ala171Asp Uncertain significance Single submitter
- DSG3 p.Ala783Val Uncertain significance Single submitter
- DSG3 p.Ala797Thr Uncertain significance Single submitter
- DSG3 p.Ala799Ser Uncertain significance Single submitter
- DSG3 p.Ala823Thr Uncertain significance Single submitter
- DSG3 p.Ala907Ser Uncertain significance Single submitter
- DSG3 p.Ala909Ser Uncertain significance Single submitter
- DSG3 p.Arg117Gln Uncertain significance Single submitter
- DSG3 p.Arg128Gln Uncertain significance Single submitter
- DSG3 p.Arg26Gln Uncertain significance Single submitter
- DSG3 p.Arg323Gly Uncertain significance Single submitter
- DSG3 p.Arg429His Uncertain significance Single submitter
- DSG3 p.Arg452Gln Uncertain significance Single submitter
- DSG3 p.Arg580His Uncertain significance Single submitter
- DSG3 p.Arg592Ser Uncertain significance Single submitter
- DSG3 p.Arg607Thr Uncertain significance Single submitter
- DSG3 p.Arg964Ser Uncertain significance Single submitter
- DSG3 p.Arg983Gln Uncertain significance Single submitter
- DSG3 p.Asn430Lys Uncertain significance Single submitter
- DSG3 p.Asn517Ser Uncertain significance Single submitter
- DSG3 p.Asp116His Uncertain significance Single submitter
- DSG3 p.Asp136Glu Uncertain significance Single submitter
- DSG3 p.Asp183His Uncertain significance Single submitter
- DSG3 p.Asp262Asn Uncertain significance Single submitter
- DSG3 p.Asp660Gly Uncertain significance Single submitter
- DSG3 p.Asp778Glu Uncertain significance Single submitter
- DSG3 p.Asp778Val Uncertain significance Single submitter
- DSG3 p.Asp817Gly Uncertain significance Single submitter
- DSG3 p.Cys643Gly Uncertain significance Single submitter
- DSG3 p.Cys898Tyr Uncertain significance Single submitter
- DSG3 p.Gln271Lys Uncertain significance Single submitter
- DSG3 p.Gln410Arg Uncertain significance Single submitter
- DSG3 p.Gln531His Uncertain significance Single submitter
- DSG3 p.Gln871Arg Uncertain significance Single submitter
- DSG3 p.Gln891Arg Uncertain significance Single submitter
- DSG3 p.Gln891His Uncertain significance Single submitter
- DSG3 p.Glu118Asp Uncertain significance Single submitter
- DSG3 p.Glu228Lys Uncertain significance Single submitter
- DSG3 p.Gly310Glu Uncertain significance Single submitter
- DSG3 p.Gly313Glu Uncertain significance Single submitter
- DSG3 p.Gly596Ala Uncertain significance Single submitter
- DSG3 p.Gly653Ser Uncertain significance Single submitter
- DSG3 p.Gly693Glu Uncertain significance Single submitter
- DSG3 p.Gly761Val Uncertain significance Single submitter
- DSG3 p.Gly941Ser Uncertain significance Single submitter
- DSG3 p.His563Tyr Uncertain significance Single submitter
- DSG3 p.His770Asn Uncertain significance Single submitter
- DSG3 p.His928Arg Uncertain significance Single submitter
- DSG3 p.Ile114Thr Uncertain significance Single submitter
- DSG3 p.Ile114Val Uncertain significance Single submitter
- DSG3 p.Ile178Thr Uncertain significance Single submitter
- DSG3 p.Ile405Asn Uncertain significance Single submitter
- DSG3 p.Ile671Phe Uncertain significance Single submitter
- DSG3 p.Ile671Thr Uncertain significance Single submitter
- DSG3 p.Ile99Val Uncertain significance Single submitter
- DSG3 p.Leu4Ile Uncertain significance Single submitter
- DSG3 p.Leu630Gln Uncertain significance Single submitter
- DSG3 p.Lys256Thr Uncertain significance Single submitter
- DSG3 p.Lys344Thr Uncertain significance Single submitter
- DSG3 p.Lys394Gln Uncertain significance Single submitter
- DSG3 p.Lys48Glu Uncertain significance Single submitter
- DSG3 p.Phe526Leu Uncertain significance Single submitter
- DSG3 p.Pro203Ala Uncertain significance Single submitter
- DSG3 p.Pro558Arg Uncertain significance Single submitter
- DSG3 p.Pro558Thr Uncertain significance Single submitter
- DSG3 p.Pro600Leu Uncertain significance Single submitter
- DSG3 p.Pro973Leu Uncertain significance Single submitter
- DSG3 p.Ser174Leu Uncertain significance Single submitter
- DSG3 p.Ser835Ile Uncertain significance Single submitter
- DSG3 p.Thr112Lys Uncertain significance Single submitter
- DSG3 p.Thr206Pro Uncertain significance Single submitter
- DSG3 p.Thr308Ala Uncertain significance Single submitter
- DSG3 p.Thr39Ser Uncertain significance Single submitter
- DSG3 p.Thr441Ile Uncertain significance Single submitter
- DSG3 p.Thr441Pro Uncertain significance Single submitter
- DSG3 p.Thr543Ala Uncertain significance Single submitter
- DSG3 p.Thr640Ser Uncertain significance Single submitter
- DSG3 p.Thr768Ala Uncertain significance Single submitter
- DSG3 p.Thr824Ala Uncertain significance Single submitter
- DSG3 p.Thr987Ala Uncertain significance Single submitter
- DSG3 p.Tyr272His Uncertain significance Single submitter
- DSG3 p.Tyr599Asn Uncertain significance Single submitter
- DSG3 p.Val481Gly Uncertain significance Single submitter
- DSG3 p.Val651Gly Uncertain significance Single submitter
- DSG3 p.Val651Met Uncertain significance Single submitter
- DSG3 p.Val920Leu Uncertain significance Single submitter
- DSG3 p.Val959Met Uncertain significance Single submitter
Predictors split 60
The independent predictors disagree with each other — read with care.
- DSG3 p.Arg219Leu Benign Multiple submitters
- DSG3 p.Arg575Trp Benign Multiple submitters
- DSG3 p.Leu856Val Uncertain significance Multiple submitters
- DSG3 p.Val509Met Benign Multiple submitters
- DSG3 p.Ala113Val Uncertain significance Single submitter
- DSG3 p.Ala184Glu Uncertain significance Single submitter
- DSG3 p.Ala513Thr Uncertain significance Single submitter
- DSG3 p.Ala549Thr Uncertain significance Single submitter
- DSG3 p.Arg128Trp Uncertain significance Single submitter
- DSG3 p.Arg219Cys Uncertain significance Single submitter
- DSG3 p.Arg234Cys Uncertain significance Single submitter
- DSG3 p.Arg234His Likely benign Single submitter
- DSG3 p.Arg275Gly Uncertain significance Single submitter
- DSG3 p.Arg384His Uncertain significance Single submitter
- DSG3 p.Arg429Cys Uncertain significance Single submitter
- DSG3 p.Asn188Ile Uncertain significance Single submitter
- DSG3 p.Asn311Asp Uncertain significance Single submitter
- DSG3 p.Asp321His Uncertain significance Single submitter
- DSG3 p.Cys253Arg Uncertain significance Single submitter
- DSG3 p.Gln795Leu Uncertain significance Single submitter
- DSG3 p.Glu326Asp Uncertain significance Single submitter
- DSG3 p.Glu858Lys Uncertain significance Single submitter
- DSG3 p.Glu963Lys Uncertain significance Single submitter
- DSG3 p.Gly474Asp Uncertain significance Single submitter
- DSG3 p.Gly736Ala Uncertain significance Single submitter
- DSG3 p.Gly820Val Uncertain significance Single submitter
- DSG3 p.Gly825Arg Uncertain significance Single submitter
- DSG3 p.Gly878Ser Uncertain significance Single submitter
- DSG3 p.Gly98Arg Uncertain significance Single submitter
- DSG3 p.His22Pro Uncertain significance Single submitter
- DSG3 p.Ile276Thr Uncertain significance Single submitter
- DSG3 p.Ile815Phe Uncertain significance Single submitter
- DSG3 p.Leu401Met Uncertain significance Single submitter
- DSG3 p.Leu633Ser Uncertain significance Single submitter
- DSG3 p.Lys146Arg Uncertain significance Single submitter
- DSG3 p.Met427Thr Uncertain significance Single submitter
- DSG3 p.Phe162Leu Uncertain significance Single submitter
- DSG3 p.Pro322Thr Uncertain significance Single submitter
- DSG3 p.Pro369Ser Uncertain significance Single submitter
- DSG3 p.Pro559Leu Uncertain significance Single submitter
- DSG3 p.Ser342Arg Uncertain significance Single submitter
- DSG3 p.Ser506Leu Uncertain significance Single submitter
- DSG3 p.Ser548Leu Uncertain significance Single submitter
- DSG3 p.Ser826Cys Uncertain significance Single submitter
- DSG3 p.Ser915Cys Uncertain significance Single submitter
- DSG3 p.Thr106Ala Uncertain significance Single submitter
- DSG3 p.Thr126Ile Uncertain significance Single submitter
- DSG3 p.Thr291Ala Uncertain significance Single submitter
- DSG3 p.Thr408Ala Uncertain significance Single submitter
- DSG3 p.Thr547Asn Uncertain significance Single submitter
- DSG3 p.Thr583Ile Uncertain significance Single submitter
- DSG3 p.Thr722Asn Uncertain significance Single submitter
- DSG3 p.Tyr482Asp Uncertain significance Single submitter
- DSG3 p.Val137Ala Uncertain significance Single submitter
- DSG3 p.Val137Ile Uncertain significance Single submitter
- DSG3 p.Val343Met Likely benign Single submitter
- DSG3 p.Val392Met Uncertain significance Single submitter
- DSG3 p.Val828Met Uncertain significance Single submitter
- DSG3 p.Val896Phe Uncertain significance Single submitter
- DSG3 p.Val944Met Uncertain significance Single submitter
All DSG3 variants
Pathogenic 1
- p.Arg287Ter No assertion criteria blistering, acantholytic, of oral and laryngeal mucosa
Benign 41
- c.1272-24G>A Multiple submitters
- c.1412-63T>G Multiple submitters
- c.1412-92T>C Multiple submitters
- c.1412-95G>A Multiple submitters
- c.1637-34C>T Multiple submitters
- c.1897+60A>G Multiple submitters
- c.2101+132G>C Multiple submitters
- c.216+44T>C Multiple submitters
- c.217-92T>C Multiple submitters
- c.2386-141T>C Multiple submitters
- c.372+203G>A Multiple submitters
- c.49-87A>G Multiple submitters
- c.518-47T>C Multiple submitters
- c.685-40T>A Multiple submitters
- c.85-114C>G Multiple submitters
- c.999+35T>A Multiple submitters
- c.-70C>T Multiple submitters
- c.-84C>T Multiple submitters
- c.-96C>T Multiple submitters
- c.*242A>G Multiple submitters
- p.Arg219Leu Multiple submitters ⚠
- p.Arg227= Multiple submitters
- p.Arg575Trp Multiple submitters ⚠
- p.Asp804= Multiple submitters
- p.Gly736= Multiple submitters
- p.Ile960Val Multiple submitters
- p.Thr912Ala Multiple submitters
- p.Val115= Multiple submitters
- p.Val509Met Multiple submitters ⚠
- c.1272-179dup Single submitter
- c.1412-301C>T Single submitter
- c.1412-348T>C Single submitter
- c.1636+250T>C Single submitter
- c.2101+253A>C Single submitter
- c.2102-208T>C Single submitter
- c.216+329A>T Single submitter
- c.217-145G>A Single submitter
- c.217-285A>C Single submitter
- c.48+296C>G Single submitter
- c.517+143G>A Single submitter
- p.Pro827= Single submitter
Likely benign 11
- p.Arg234His Single submitter ⚠
- p.Arg362Gln Single submitter
- p.Arg575Gln Single submitter
- p.Asp431Asn Single submitter
- p.Ile564Val Single submitter
- p.Ile888Thr Single submitter
- p.Met2Thr Single submitter
- p.Met578Thr Single submitter
- p.Thr768= Single submitter
- p.Val343Met Single submitter ⚠
- p.Val538Ile Single submitter
Uncertain significance 144
- p.Leu856Val Multiple submitters ⚠
- c.518-1G>A Single submitter blistering, acantholytic, of oral and laryngeal mucosa
- p.Ala113Val Single submitter ⚠
- p.Ala129Val Single submitter ⚠
- p.Ala171Asp Single submitter ⚠
- p.Ala184Glu Single submitter ⚠
- p.Ala513Thr Single submitter ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala783Val Single submitter ⚠
- p.Ala797Thr Single submitter ⚠
- p.Ala799Ser Single submitter ⚠
- p.Ala823Thr Single submitter ⚠
- p.Ala907Ser Single submitter ⚠
- p.Ala909Ser Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg128Trp Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg26Gln Single submitter ⚠
- p.Arg275Gly Single submitter ⚠
- p.Arg323Gly Single submitter ⚠
- p.Arg384His Single submitter ⚠
- p.Arg429Cys Single submitter ⚠
- p.Arg429His Single submitter ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg580His Single submitter ⚠
- p.Arg592Ser Single submitter ⚠
- p.Arg607Thr Single submitter ⚠
- p.Arg964Ser Single submitter ⚠
- p.Arg983Gln Single submitter ⚠
- p.Asn188Ile Single submitter ⚠
- p.Asn311Asp Single submitter ⚠
- p.Asn430Lys Single submitter ⚠
- p.Asn517Ser Single submitter ⚠
- p.Asp116His Single submitter ⚠
- p.Asp136Glu Single submitter ⚠
- p.Asp183His Single submitter ⚠
- p.Asp262Asn Single submitter ⚠
- p.Asp321His Single submitter ⚠
- p.Asp660Gly Single submitter ⚠
- p.Asp778Glu Single submitter ⚠
- p.Asp778Val Single submitter ⚠
- p.Asp817Gly Single submitter ⚠
- p.Cys253Arg Single submitter ⚠
- p.Cys643Gly Single submitter ⚠
- p.Cys898Tyr Single submitter ⚠
- p.Gln271Lys Single submitter ⚠
- p.Gln410Arg Single submitter ⚠
- p.Gln531His Single submitter ⚠
- p.Gln795Leu Single submitter ⚠
- p.Gln871Arg Single submitter ⚠
- p.Gln891Arg Single submitter ⚠
- p.Gln891His Single submitter ⚠
- p.Glu118Asp Single submitter ⚠
- p.Glu228Lys Single submitter ⚠
- p.Glu326Asp Single submitter ⚠
- p.Glu858Lys Single submitter ⚠
- p.Glu963Lys Single submitter ⚠
- p.Gly310Glu Single submitter ⚠
- p.Gly313Glu Single submitter ⚠
- p.Gly474Asp Single submitter ⚠
- p.Gly596Ala Single submitter ⚠
- p.Gly653Ser Single submitter ⚠
- p.Gly693Glu Single submitter ⚠
- p.Gly736Ala Single submitter ⚠
- p.Gly761Val Single submitter ⚠
- p.Gly820Val Single submitter ⚠
- p.Gly825Arg Single submitter ⚠
- p.Gly878Ser Single submitter ⚠
- p.Gly941Ser Single submitter ⚠
- p.Gly98Arg Single submitter ⚠
- p.His22Pro Single submitter ⚠
- p.His563Tyr Single submitter ⚠
- p.His770Asn Single submitter ⚠
- p.His928Arg Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Ile114Val Single submitter ⚠
- p.Ile178Thr Single submitter ⚠
- p.Ile276Thr Single submitter ⚠
- p.Ile405Asn Single submitter ⚠
- p.Ile671Phe Single submitter ⚠
- p.Ile671Thr Single submitter ⚠
- p.Ile815Phe Single submitter ⚠
- p.Ile99Val Single submitter ⚠
- p.Leu401Met Single submitter ⚠
- p.Leu4Ile Single submitter ⚠
- p.Leu630Gln Single submitter ⚠
- p.Leu633Ser Single submitter ⚠
- p.Lys146Arg Single submitter ⚠
- p.Lys256Thr Single submitter ⚠
- p.Lys344Thr Single submitter ⚠
- p.Lys394Gln Single submitter ⚠
- p.Lys48Glu Single submitter ⚠
- p.Met427Thr Single submitter ⚠
- p.Phe162Leu Single submitter ⚠
- p.Phe526Leu Single submitter ⚠
- p.Pro203Ala Single submitter ⚠
- p.Pro322Thr Single submitter ⚠
- p.Pro369Ser Single submitter ⚠
- p.Pro558Arg Single submitter ⚠
- p.Pro558Thr Single submitter ⚠
- p.Pro559Leu Single submitter ⚠
- p.Pro600Leu Single submitter ⚠
- p.Pro973Leu Single submitter ⚠
- p.Ser174Leu Single submitter ⚠
- p.Ser342Arg Single submitter ⚠
- p.Ser506Leu Single submitter ⚠
- p.Ser548Leu Single submitter ⚠
- p.Ser826Cys Single submitter ⚠
- p.Ser835Ile Single submitter ⚠
- p.Ser915Cys Single submitter ⚠
- p.Thr106Ala Single submitter ⚠
- p.Thr112Lys Single submitter ⚠
- p.Thr126Ile Single submitter ⚠
- p.Thr206Pro Single submitter ⚠
- p.Thr291Ala Single submitter ⚠
- p.Thr308Ala Single submitter ⚠
- p.Thr39Ser Single submitter ⚠
- p.Thr408Ala Single submitter ⚠
- p.Thr441Ile Single submitter ⚠
- p.Thr441Pro Single submitter ⚠
- p.Thr543Ala Single submitter ⚠
- p.Thr547Asn Single submitter ⚠
- p.Thr583Ile Single submitter ⚠
- p.Thr640Ser Single submitter ⚠
- p.Thr722Asn Single submitter ⚠
- p.Thr768Ala Single submitter ⚠
- p.Thr824Ala Single submitter ⚠
- p.Thr987Ala Single submitter ⚠
- p.Tyr272His Single submitter ⚠
- p.Tyr482Asp Single submitter ⚠
- p.Tyr599Asn Single submitter ⚠
- p.Val137Ala Single submitter ⚠
- p.Val137Ile Single submitter ⚠
- p.Val392Met Single submitter ⚠
- p.Val481Gly Single submitter ⚠
- p.Val651Gly Single submitter ⚠
- p.Val651Met Single submitter ⚠
- p.Val828Met Single submitter ⚠
- p.Val896Phe Single submitter ⚠
- p.Val920Leu Single submitter ⚠
- p.Val944Met Single submitter ⚠
- p.Val959Met Single submitter ⚠