DSG4 — 335 ClinVar variants
All ClinVar germline DSG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →
12 Pathogenic · 7 Likely pathogenic · 33 Conflicting · 32 Benign · 13 Benign/Likely benign · 40 Likely benign · 198 Uncertain significance
Full DSG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 196
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 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DSG4 p.Ala770Thr
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Ala789Val
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg128Gln
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Asn932Ser
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Cys494Arg
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Gly400Arg
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Gly796Val
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile1035Met
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser1008Asn
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser79Leu
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Ser880Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr552Lys
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Thr982Met
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Val1017Ile
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Val974Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 113
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DSG4 p.Arg139Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Gly912Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Gly912Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.His386Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.His902Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Lys197Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Met1007Thr
Uncertain significance
Multiple submitters
hypotrichosis 6
-
DSG4 p.Ser456Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Tyr307Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Tyr585His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Ala129Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ala195Pro
Uncertain significance
Single submitter
hypotrichosis 6
- DSG4 p.Ala246Val Uncertain significance Single submitter
-
DSG4 p.Ala342Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG4 p.Ala422Thr Uncertain significance Single submitter
-
DSG4 p.Ala601Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ala702Thr
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Ala702Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ala756Ser
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Ala787Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ala895Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ala970Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg1026Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG4 p.Arg1031Gln Uncertain significance Single submitter
- DSG4 p.Arg105His Uncertain significance Single submitter
-
DSG4 p.Arg373Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg395Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg49Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg682Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg74Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg759Thr
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Arg94Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG4 p.Asn405Ser Uncertain significance Single submitter
-
DSG4 p.Asn735Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asn874Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG4 p.Asn874Thr Uncertain significance Single submitter
-
DSG4 p.Asp116Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp149Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp183Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp296Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp707Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp794Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp829Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Cys505Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Cys576Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DSG4 p.Gln1039Lys Uncertain significance Single submitter
-
DSG4 p.Gln375Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gln657His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu298Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu381Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu467Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu486Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu672Gly
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Glu689Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly312Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly350Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly400Glu
Uncertain significance
Single submitter
hypotrichosis 6
- DSG4 p.Gly634Asp Uncertain significance Single submitter
-
DSG4 p.Gly673Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly796Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly903Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly973Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly988Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly993Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.His1036Tyr
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Ile1013Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile194Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile210Phe
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Ile34Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile398Lys
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Ile414Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile459Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile52Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile535Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile696Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile83Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Leu143Arg
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Leu469Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Met1006Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Met367Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Met538Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Met635Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Met833Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Met991Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Phe209Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Phe318Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Phe6Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Pro669Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Pro854Ser
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Pro916Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Pro931Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser1021Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser760Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser897Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser897Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr1020Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr38Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr665Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr705Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr850Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Tyr196Cys
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Tyr307Cys
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Tyr715Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Tyr719His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Tyr97Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val147Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val17Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val361Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val528Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val582Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val677Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val90Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Cys917Arg
Uncertain significance
No assertion criteria
DSG4-related disorder
Predictors split 68
The independent predictors disagree with each other — read with care.
-
DSG4 p.Ala154Thr
Benign/Likely benign
Multiple submitters
hypotrichosis 6
-
DSG4 p.Arg59Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Asn932Lys
Benign
Multiple submitters
hypotrichosis 6
-
DSG4 p.Ile166Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Ile439Thr
Benign/Likely benign
Multiple submitters
hypotrichosis 6
-
DSG4 p.Pro523Leu
Benign/Likely benign
Multiple submitters
hypotrichosis 6
-
DSG4 p.Tyr911His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DSG4 p.Ala741Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ala752Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg133Gln
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Arg238Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg289Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Arg395Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asn316Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asn327Ser
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Asn68Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asn949Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp319Asn
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Asp415Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Asp926Gly
Conflicting
Single submitter
hypotrichosis 6
-
DSG4 p.Cys527Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Cys802Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu834Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu853Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Glu937Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly239Ser
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Gly382Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly419Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly430Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly462Arg
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Gly534Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly737Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly748Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly810Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Gly872Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile166Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile309Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile429Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile471Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile70Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ile87Leu
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Ile906Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Leu295Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Leu310Ile
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Leu628Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Leu649Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Lys786Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Met208Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DSG4 p.Phe25Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Phe365Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Phe452Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Pro140Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Pro343Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Pro383Leu
Uncertain significance
Single submitter
hypotrichosis 6
-
DSG4 p.Pro95Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Pro999Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser360Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Ser548Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr182Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Thr525Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Tyr126Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Tyr406Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val372Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val394Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val742Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val811Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val815Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DSG4 p.Val939Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All DSG4 variants
Pathogenic 12
- c.216+1G>T Single submitter hypotrichosis 6
- p.Glu689Ter Single submitter
- p.Ile459fs Single submitter
- p.Met208fs Single submitter hypotrichosis 6
- p.Phe392fs Single submitter ectodermal dysplasia syndrome
- c.373-32_1005+292del No assertion criteria hypotrichosis 6
- p.Asp323Gly No assertion criteria hypotrichosis 6
- p.Cys255fs No assertion criteria hypotrichosis 6
- p.Pro267Arg No assertion criteria hypotrichosis 6
- p.Ser192Pro No assertion criteria hypotrichosis 6
- p.Ser680fs No assertion criteria hypotrichosis 6
- p.Thr43fs No assertion criteria hypotrichosis 6
Likely pathogenic 7
- p.Arg289Ter Single submitter hypotrichosis 6
- p.Arg797Ter Single submitter hypotrichosis 6
- p.Cys589fs Single submitter hypotrichosis 6
- p.Gln81Ter Single submitter hypotrichosis 6
- p.Glu28Ter Single submitter
- p.Lys30fs Single submitter hypotrichosis 6
- p.Phe526Leu Single submitter hypotrichosis 6
Conflicting classifications of pathogenicity 33
- c.1278-13T>C Single submitter hypotrichosis 6
- c.1636+12G>A Single submitter hypotrichosis 6
- c.1637-14C>T Single submitter hypotrichosis 6
- c.1933+12A>G Single submitter hypotrichosis 6
- p.Ala770Thr Single submitter hypotrichosis 6 ⚠
- p.Ala789Val Single submitter Inborn genetic diseases ⚠
- p.Arg128Gln Single submitter Inborn genetic diseases ⚠
- p.Arg841= Single submitter hypotrichosis 6
- p.Arg967= Single submitter hypotrichosis 6
- p.Asn327Ser Single submitter hypotrichosis 6 ⚠
- p.Asn932Ser Single submitter hypotrichosis 6 ⚠
- p.Asp319Asn Single submitter hypotrichosis 6 ⚠
- p.Asp768_Tyr769insTer Single submitter
- p.Asp926Gly Single submitter hypotrichosis 6 ⚠
- p.Cys494Arg Single submitter hypotrichosis 6 ⚠
- p.Gln580= Single submitter hypotrichosis 6
- p.Gly400Arg Single submitter hypotrichosis 6 ⚠
- p.Gly673= Single submitter hypotrichosis 6
- p.Gly722= Single submitter hypotrichosis 6
- p.Gly796Val Single submitter Inborn genetic diseases ⚠
- p.Ile1035Met Single submitter Inborn genetic diseases ⚠
- p.Lys839= Single submitter hypotrichosis 6
- p.Met208Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1008Asn Single submitter Inborn genetic diseases ⚠
- p.Ser79Leu Single submitter hypotrichosis 6 ⚠
- p.Ser880Thr Single submitter Inborn genetic diseases ⚠
- p.Thr552Lys Single submitter hypotrichosis 6 ⚠
- p.Thr765_Leu766insSerGlyAlaAlaArgLysArgSerSerThrMetGlyAla Single submitter
- p.Thr982Met Single submitter Inborn genetic diseases ⚠
- p.Val1017Ile Single submitter Inborn genetic diseases ⚠
- p.Val376= Single submitter hypotrichosis 6
- p.Val379= Single submitter hypotrichosis 6
- p.Val974Met Single submitter Inborn genetic diseases ⚠
Benign 32
- c.1005+60A>C Multiple submitters
- c.1934-183C>T Multiple submitters
- c.1934-199A>G Multiple submitters
- c.2074-34C>T Multiple submitters
- c.2138-133T>G Multiple submitters
- c.2355+94T>C Multiple submitters
- c.48+150A>T Multiple submitters
- c.517+27C>T Multiple submitters
- c.517+37T>G Multiple submitters
- c.517+63T>C Multiple submitters
- c.518-94G>A Multiple submitters
- c.685-59G>A Multiple submitters
- c.85-133G>C Multiple submitters
- c.*31C>T Multiple submitters hypotrichosis 6
- p.Arg797= Multiple submitters hypotrichosis 6
- p.Arg86= Multiple submitters hypotrichosis 6
- p.Asn932Lys Multiple submitters hypotrichosis 6 ⚠
- p.Cys10= Multiple submitters hypotrichosis 6
- p.Ile535Thr Multiple submitters hypotrichosis 6
- p.Ile644Leu Multiple submitters hypotrichosis 6
- p.Leu578= Multiple submitters
- p.Pro1022= Multiple submitters hypotrichosis 6
- p.Pro916= Multiple submitters hypotrichosis 6
- p.Ser165= Multiple submitters hypotrichosis 6
- c.1006-309A>C Single submitter
- c.1278-232C>A Single submitter
- c.1418-16A>G Single submitter
- c.1934-250G>A Single submitter
- c.49-239T>C Single submitter
- c.819+309G>A Single submitter
- p.Ser548= Single submitter
- p.Ser753_Thr765dup Single submitter
Benign/Likely benign 13
- c.*126G>A Multiple submitters hypotrichosis 6
- c.*71A>G Multiple submitters hypotrichosis 6
- p.Ala154Thr Multiple submitters hypotrichosis 6 ⚠
- p.Arg7= Multiple submitters hypotrichosis 6
- p.Asn496Ser Multiple submitters hypotrichosis 6
- p.Ile439Thr Multiple submitters hypotrichosis 6 ⚠
- p.Ile513= Multiple submitters hypotrichosis 6
- p.Met1023Ile Multiple submitters hypotrichosis 6
- p.Pro523Leu Multiple submitters hypotrichosis 6 ⚠
- p.Pro814= Multiple submitters hypotrichosis 6
- p.Pro863= Multiple submitters hypotrichosis 6
- p.Ser285= Multiple submitters hypotrichosis 6
- p.Thr765Ala Multiple submitters hypotrichosis 6
Likely benign 40
- p.Val199Ile Multiple submitters Inborn genetic diseases
- c.1418-19A>G Single submitter
- c.85-19T>C Single submitter
- p.Ala601Thr Single submitter Inborn genetic diseases
- p.Ala787= Single submitter
- p.Asn717= Single submitter
- p.Asp597Tyr Single submitter Inborn genetic diseases
- p.Gly610= Single submitter
- p.Gly973= Single submitter
- p.His230= Single submitter
- p.His593= Single submitter
- p.Ile1035Thr Single submitter
- p.Ile608Val Single submitter Inborn genetic diseases
- p.Leu663= Single submitter
- p.Lys66Glu Single submitter
- p.Met894Val Single submitter Inborn genetic diseases
- p.Pro69= Single submitter
- p.Pro999= Single submitter
- p.Ser730= Single submitter
- p.Ser753Ala Single submitter Inborn genetic diseases
- p.Thr272= Single submitter
- p.Thr43= Single submitter
- p.Thr612= Single submitter
- p.Thr884= Single submitter
- p.Thr982= Single submitter
- p.Tyr458= Single submitter
- p.Tyr464= Single submitter
- p.Tyr911= Single submitter
- p.Val17= Single submitter
- p.Val888= Single submitter
- p.Val888Ala Single submitter Inborn genetic diseases
- p.Val900= Single submitter
- p.Val900Met Single submitter Inborn genetic diseases
- c.2138-48C>T No assertion criteria DSG4-related disorder
- c.216+7G>A No assertion criteria DSG4-related disorder
- c.2355+8C>T No assertion criteria DSG4-related disorder
- c.517+8G>A No assertion criteria DSG4-related disorder
- p.Asp226= No assertion criteria DSG4-related disorder
- p.Leu408= No assertion criteria DSG4-related disorder
- p.Leu416= No assertion criteria DSG4-related disorder
Uncertain significance 198
- p.Arg139Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg59Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly912Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly912Ser Multiple submitters Inborn genetic diseases ⚠
- p.His386Gln Multiple submitters Inborn genetic diseases ⚠
- p.His902Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile166Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys197Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met1007Thr Multiple submitters hypotrichosis 6 ⚠
- p.Ser456Pro Multiple submitters Inborn genetic diseases ⚠
- p.Tyr307Asp Multiple submitters Inborn genetic diseases ⚠
- p.Tyr585His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr911His Multiple submitters Inborn genetic diseases ⚠
- c.1005+1G>A Single submitter hypotrichosis 6
- c.2137+5G>A Single submitter
- c.517+7A>T Single submitter hypotrichosis 6
- c.-101T>A Single submitter hypotrichosis 6
- c.-10A>G Single submitter hypotrichosis 6
- c.-133C>T Single submitter hypotrichosis 6
- c.-16A>G Single submitter hypotrichosis 6
- c.-43A>C Single submitter hypotrichosis 6
- c.-43A>G Single submitter hypotrichosis 6
- c.-52G>A Single submitter hypotrichosis 6
- c.-66G>A Single submitter hypotrichosis 6
- c.-88A>G Single submitter hypotrichosis 6
- c.*104A>T Single submitter hypotrichosis 6
- c.*303G>A Single submitter hypotrichosis 6
- c.*55C>T Single submitter hypotrichosis 6
- p.Ala129_Arg133del Single submitter hypotrichosis 6
- p.Ala129Pro Single submitter Inborn genetic diseases ⚠
- p.Ala195Pro Single submitter hypotrichosis 6 ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala342Val Single submitter Inborn genetic diseases ⚠
- p.Ala422Thr Single submitter ⚠
- p.Ala575= Single submitter hypotrichosis 6
- p.Ala600= Single submitter hypotrichosis 6
- p.Ala601Val Single submitter Inborn genetic diseases ⚠
- p.Ala702Thr Single submitter hypotrichosis 6 ⚠
- p.Ala702Val Single submitter Inborn genetic diseases ⚠
- p.Ala741Asp Single submitter Inborn genetic diseases ⚠
- p.Ala752Asp Single submitter Inborn genetic diseases ⚠
- p.Ala756Ser Single submitter hypotrichosis 6 ⚠
- p.Ala787Thr Single submitter Inborn genetic diseases ⚠
- p.Ala895Val Single submitter Inborn genetic diseases ⚠
- p.Ala970Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1026Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1031Gln Single submitter ⚠
- p.Arg105His Single submitter ⚠
- p.Arg133Gln Single submitter hypotrichosis 6 ⚠
- p.Arg238Thr Single submitter Inborn genetic diseases ⚠
- p.Arg289Gln Single submitter Inborn genetic diseases ⚠
- p.Arg373Lys Single submitter Inborn genetic diseases ⚠
- p.Arg395Pro Single submitter Inborn genetic diseases ⚠
- p.Arg395Trp Single submitter Inborn genetic diseases ⚠
- p.Arg49Trp Single submitter Inborn genetic diseases ⚠
- p.Arg682Lys Single submitter Inborn genetic diseases ⚠
- p.Arg74Pro Single submitter Inborn genetic diseases ⚠
- p.Arg759Thr Single submitter hypotrichosis 6 ⚠
- p.Arg94Leu Single submitter Inborn genetic diseases ⚠
- p.Asn316Asp Single submitter Inborn genetic diseases ⚠
- p.Asn405Ser Single submitter ⚠
- p.Asn573= Single submitter hypotrichosis 6
- p.Asn68Asp Single submitter Inborn genetic diseases ⚠
- p.Asn735Lys Single submitter Inborn genetic diseases ⚠
- p.Asn874Ser Single submitter Inborn genetic diseases ⚠
- p.Asn874Thr Single submitter ⚠
- p.Asn949Thr Single submitter Inborn genetic diseases ⚠
- p.Asp116Gly Single submitter Inborn genetic diseases ⚠
- p.Asp149Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp183Gly Single submitter Inborn genetic diseases ⚠
- p.Asp296Asn Single submitter Inborn genetic diseases ⚠
- p.Asp415Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp707Gly Single submitter Inborn genetic diseases ⚠
- p.Asp794Asn Single submitter Inborn genetic diseases ⚠
- p.Asp829Glu Single submitter Inborn genetic diseases ⚠
- p.Cys505Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys527Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys576Arg Single submitter Inborn genetic diseases ⚠
- p.Cys802Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln1039Lys Single submitter ⚠
- p.Gln375Arg Single submitter Inborn genetic diseases ⚠
- p.Gln657His Single submitter Inborn genetic diseases ⚠
- p.Gln657Leu Single submitter
- p.Glu298Lys Single submitter Inborn genetic diseases ⚠
- p.Glu381Gly Single submitter Inborn genetic diseases ⚠
- p.Glu467Asp Single submitter Inborn genetic diseases ⚠
- p.Glu486Asp Single submitter Inborn genetic diseases ⚠
- p.Glu672Gly Single submitter hypotrichosis 6 ⚠
- p.Glu689Gln Single submitter Inborn genetic diseases ⚠
- p.Glu834Gly Single submitter Inborn genetic diseases ⚠
- p.Glu853Lys Single submitter Inborn genetic diseases ⚠
- p.Glu937Lys Single submitter Inborn genetic diseases ⚠
- p.Gly239Ser Single submitter hypotrichosis 6 ⚠
- p.Gly312Glu Single submitter Inborn genetic diseases ⚠
- p.Gly350Arg Single submitter Inborn genetic diseases ⚠
- p.Gly382Ala Single submitter Inborn genetic diseases ⚠
- p.Gly400Glu Single submitter hypotrichosis 6 ⚠
- p.Gly419Arg Single submitter Inborn genetic diseases ⚠
- p.Gly430Glu Single submitter Inborn genetic diseases ⚠
- p.Gly462Arg Single submitter hypotrichosis 6 ⚠
- p.Gly534Val Single submitter Inborn genetic diseases ⚠
- p.Gly634Asp Single submitter ⚠
- p.Gly673Ser Single submitter Inborn genetic diseases ⚠
- p.Gly737Asp Single submitter Inborn genetic diseases ⚠
- p.Gly748Glu Single submitter Inborn genetic diseases ⚠
- p.Gly796Asp Single submitter Inborn genetic diseases ⚠
- p.Gly810Arg Single submitter Inborn genetic diseases ⚠
- p.Gly872Arg Single submitter Inborn genetic diseases ⚠
- p.Gly903Arg Single submitter Inborn genetic diseases ⚠
- p.Gly973Asp Single submitter Inborn genetic diseases ⚠
- p.Gly988Arg Single submitter Inborn genetic diseases ⚠
- p.Gly993Ser Single submitter Inborn genetic diseases ⚠
- p.His1036Tyr Single submitter hypotrichosis 6 ⚠
- p.Ile1013Thr Single submitter Inborn genetic diseases ⚠
- p.Ile166Thr Single submitter Inborn genetic diseases ⚠
- p.Ile194Thr Single submitter Inborn genetic diseases ⚠
- p.Ile210Phe Single submitter hypotrichosis 6 ⚠
- p.Ile309Phe Single submitter Inborn genetic diseases ⚠
- p.Ile34Val Single submitter Inborn genetic diseases ⚠
- p.Ile398Lys Single submitter hypotrichosis 6 ⚠
- p.Ile414Thr Single submitter Inborn genetic diseases ⚠
- p.Ile429Val Single submitter Inborn genetic diseases ⚠
- p.Ile459Leu Single submitter Inborn genetic diseases ⚠
- p.Ile471Thr Single submitter Inborn genetic diseases ⚠
- p.Ile52Asn Single submitter Inborn genetic diseases ⚠
- p.Ile535Arg Single submitter Inborn genetic diseases ⚠
- p.Ile696Thr Single submitter Inborn genetic diseases ⚠
- p.Ile70Val Single submitter Inborn genetic diseases ⚠
- p.Ile83Thr Single submitter Inborn genetic diseases ⚠
- p.Ile87Leu Single submitter hypotrichosis 6 ⚠
- p.Ile906Ser Single submitter Inborn genetic diseases ⚠
- p.Leu143Arg Single submitter hypotrichosis 6 ⚠
- p.Leu295Pro Single submitter Inborn genetic diseases ⚠
- p.Leu310= Single submitter hypotrichosis 6
- p.Leu310Ile Single submitter hypotrichosis 6 ⚠
- p.Leu404= Single submitter hypotrichosis 6
- p.Leu469Pro Single submitter Inborn genetic diseases ⚠
- p.Leu628Pro Single submitter Inborn genetic diseases ⚠
- p.Leu649Ser Single submitter Inborn genetic diseases ⚠
- p.Lys72= Single submitter
- p.Lys786Glu Single submitter Inborn genetic diseases ⚠
- p.Met1006Val Single submitter Inborn genetic diseases ⚠
- p.Met367Ile Single submitter Inborn genetic diseases ⚠
- p.Met538Ile Single submitter Inborn genetic diseases ⚠
- p.Met635Leu Single submitter Inborn genetic diseases ⚠
- p.Met833Leu Single submitter Inborn genetic diseases ⚠
- p.Met991Ile Single submitter Inborn genetic diseases ⚠
- p.Phe209Leu Single submitter Inborn genetic diseases ⚠
- p.Phe25Ser Single submitter Inborn genetic diseases ⚠
- p.Phe318Leu Single submitter Inborn genetic diseases ⚠
- p.Phe365Ser Single submitter Inborn genetic diseases ⚠
- p.Phe452Leu Single submitter Inborn genetic diseases ⚠
- p.Phe6Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1009= Single submitter hypotrichosis 6
- p.Pro140Ser Single submitter Inborn genetic diseases ⚠
- p.Pro343Leu Single submitter Inborn genetic diseases ⚠
- p.Pro383Leu Single submitter hypotrichosis 6 ⚠
- p.Pro669Ser Single submitter Inborn genetic diseases ⚠
- p.Pro854Ser Single submitter hypotrichosis 6 ⚠
- p.Pro916Leu Single submitter Inborn genetic diseases ⚠
- p.Pro931Ser Single submitter Inborn genetic diseases ⚠
- p.Pro95Ser Single submitter Inborn genetic diseases ⚠
- p.Pro999Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1021Thr Single submitter Inborn genetic diseases ⚠
- p.Ser158= Single submitter hypotrichosis 6
- p.Ser360Cys Single submitter Inborn genetic diseases ⚠
- p.Ser548Leu Single submitter Inborn genetic diseases ⚠
- p.Ser760Gly Single submitter Inborn genetic diseases ⚠
- p.Ser897Cys Single submitter Inborn genetic diseases ⚠
- p.Ser897Tyr Single submitter Inborn genetic diseases ⚠
- p.Thr1020Ile Single submitter Inborn genetic diseases ⚠
- p.Thr182Ile Single submitter Inborn genetic diseases ⚠
- p.Thr38Ser Single submitter Inborn genetic diseases ⚠
- p.Thr525Ile Single submitter Inborn genetic diseases ⚠
- p.Thr665Ile Single submitter Inborn genetic diseases ⚠
- p.Thr705Ile Single submitter Inborn genetic diseases ⚠
- p.Thr850Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr126Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr196Cys Single submitter hypotrichosis 6 ⚠
- p.Tyr307Cys Single submitter hypotrichosis 6 ⚠
- p.Tyr406Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr715Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr719His Single submitter Inborn genetic diseases ⚠
- p.Tyr97Cys Single submitter Inborn genetic diseases ⚠
- p.Val147Ile Single submitter Inborn genetic diseases ⚠
- p.Val17Met Single submitter Inborn genetic diseases ⚠
- p.Val361Ile Single submitter Inborn genetic diseases ⚠
- p.Val372Met Single submitter Inborn genetic diseases ⚠
- p.Val394Met Single submitter Inborn genetic diseases ⚠
- p.Val528Ile Single submitter Inborn genetic diseases ⚠
- p.Val582Leu Single submitter Inborn genetic diseases ⚠
- p.Val677Ala Single submitter Inborn genetic diseases ⚠
- p.Val742Phe Single submitter Inborn genetic diseases ⚠
- p.Val811Phe Single submitter Inborn genetic diseases ⚠
- p.Val815Ile Single submitter Inborn genetic diseases ⚠
- p.Val90Ile Single submitter Inborn genetic diseases ⚠
- p.Val939Ile Single submitter Inborn genetic diseases ⚠
- p.Cys917Arg No assertion criteria DSG4-related disorder ⚠