CDSN — 153 ClinVar variants
All ClinVar germline CDSN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
5 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 43 Benign · 4 Benign/Likely benign · 24 Likely benign · 72 Uncertain significance
Full CDSN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CDSN variants
Pathogenic 5
- p.Lys59Ter Multiple submitters peeling skin syndrome 1
- p.Gln200Ter No assertion criteria hypotrichosis 2
- p.Gln215Ter No assertion criteria hypotrichosis 2
- p.Gly142Ter No assertion criteria peeling skin syndrome 1
- p.Gly249fs No assertion criteria peeling skin syndrome 1
Likely pathogenic 4
- p.Arg11fs Single submitter peeling skin syndrome 1
- p.Gln162Ter Single submitter peeling skin syndrome 1
- p.Gly487Ser Single submitter peeling skin syndrome 1
- p.Ser195fs Single submitter CDSN-related disorder
Conflicting classifications of pathogenicity 1
- p.Ser152Gly Single submitter Inborn genetic diseases
Benign 43
- p.Arg251= Multiple submitters
- p.Asn527Asp Multiple submitters peeling skin syndrome 1
- p.Cys448= Multiple submitters
- p.Gly409Val Multiple submitters
- p.Gly86Ser Multiple submitters
- p.Met18Leu Multiple submitters
- p.Phe202Ser Multiple submitters
- p.Pro223= Multiple submitters
- p.Ser236= Multiple submitters
- p.Ser408Ala Multiple submitters
- p.Ser439= Multiple submitters
- p.Ser453Asn Multiple submitters peeling skin syndrome 1
- c.85+178C>T Single submitter
- c.85+204A>C Single submitter
- c.85+36C>T Single submitter
- c.85+75A>G Single submitter
- c.86-241C>G Single submitter
- c.86-257C>T Single submitter
- c.86-34C>T Single submitter
- c.86-50G>A Single submitter
- c.86-76G>T Single submitter
- c.-6T>C Single submitter
- c.*138C>T Single submitter
- c.*146C>T Single submitter
- c.*73T>G Single submitter
- p.Ala368= Single submitter
- p.Arg11His Single submitter
- p.Asn143= Single submitter
- p.Asn143Ser Single submitter
- p.Gln200= Single submitter
- p.Gly36Ser Single submitter
- p.Gly383Asp Single submitter
- p.Gly64= Single submitter
- p.Leu410Ser Single submitter
- p.Pro41= Single submitter
- p.Pro471= Single submitter
- p.Ser151Cys Single submitter
- p.Ser152Arg Single submitter
- p.Ser153del Single submitter
- p.Ser353= Single submitter
- p.Ser401Gly Single submitter
- p.Ter530= Single submitter
- p.Tyr319= Single submitter
Benign/Likely benign 4
- p.Ala483Thr Multiple submitters
- p.Leu509= Multiple submitters hypotrichosis 2
- p.Leu56Phe Multiple submitters
- p.Ser434Arg Multiple submitters
Likely benign 24
- p.Asn179Ser Multiple submitters hypotrichosis 2
- p.Gly301= Multiple submitters
- p.Pro192Leu Multiple submitters Inborn genetic diseases
- p.Pro226= Multiple submitters
- p.Ser3= Multiple submitters
- p.Val255= Multiple submitters
- c.85+17C>T Single submitter
- c.86-17A>G Single submitter
- p.Ala264= Single submitter
- p.Cys415= Single submitter
- p.Gln505= Single submitter
- p.Ile232Val Single submitter Inborn genetic diseases
- p.Leu176= Single submitter
- p.Leu509Pro Single submitter
- p.Pro411= Single submitter
- p.Ser138Gly Single submitter Inborn genetic diseases
- p.Ser159= Single submitter
- p.Ser212Asn Single submitter Inborn genetic diseases
- p.Ser234= Single submitter
- p.Ser361= Single submitter
- p.Ser395Gly Single submitter Inborn genetic diseases
- p.Ser400= Single submitter
- p.Ser408= Single submitter
- p.Ser440Gly Single submitter Inborn genetic diseases
Uncertain significance 72
- p.Cys423Ser Multiple submitters Inborn genetic diseases
- p.Gly335Ala Multiple submitters Inborn genetic diseases
- p.Pro226Ser Multiple submitters Inborn genetic diseases
- p.Pro447Leu Multiple submitters hypotrichosis 2
- p.Pro471Leu Multiple submitters Inborn genetic diseases
- p.Ser159Gly Multiple submitters Inborn genetic diseases
- p.Ser274Asn Multiple submitters Inborn genetic diseases
- p.Val506Met Multiple submitters Inborn genetic diseases
- p.Ala368Gly Single submitter Inborn genetic diseases
- p.Ala481Ser Single submitter
- p.Ala481Thr Single submitter Inborn genetic diseases
- p.Arg184Cys Single submitter Inborn genetic diseases
- p.Arg216Gly Single submitter Inborn genetic diseases
- p.Arg47Cys Single submitter
- p.Arg47Pro Single submitter
- p.Arg497His Single submitter
- p.Arg500Trp Single submitter
- p.Asn179Asp Single submitter Inborn genetic diseases
- p.Asn188Lys Single submitter Inborn genetic diseases
- p.Asn527fs Single submitter
- p.Asn52Lys Single submitter
- p.Asp290Glu Single submitter Inborn genetic diseases
- p.Cys218Ser Single submitter Inborn genetic diseases
- p.Gln126His Single submitter
- p.Gln169His Single submitter Inborn genetic diseases
- p.Gln209Glu Single submitter
- p.Gln215Lys Single submitter Inborn genetic diseases
- p.Gly127Ser Single submitter
- p.Gly130Arg Single submitter
- p.Gly135Trp Single submitter Inborn genetic diseases
- p.Gly237Cys Single submitter Inborn genetic diseases
- p.Gly237Ser Single submitter Inborn genetic diseases
- p.Gly249Asp Single submitter Inborn genetic diseases
- p.Gly263Arg Single submitter Inborn genetic diseases
- p.Gly373Arg Single submitter
- p.Gly429Val Single submitter Inborn genetic diseases
- p.Gly482Ser Single submitter
- p.Gly523Arg Single submitter
- p.Gly64Ala Single submitter
- p.Gly87Val Single submitter Inborn genetic diseases
- p.Ile232Met Single submitter Inborn genetic diseases
- p.Ile286Thr Single submitter
- p.Ile286Val Single submitter Inborn genetic diseases
- p.Ile35Leu Single submitter
- p.Met9Leu Single submitter Inborn genetic diseases
- p.Pro108Gln Single submitter Inborn genetic diseases
- p.Pro282Ser Single submitter Inborn genetic diseases
- p.Pro282Thr Single submitter
- p.Pro458Ala Single submitter Inborn genetic diseases
- p.Pro458Thr Single submitter
- p.Pro508Thr Single submitter Inborn genetic diseases
- p.Pro511Leu Single submitter
- p.Ser123Cys Single submitter
- p.Ser139Cys Single submitter Inborn genetic diseases
- p.Ser150Asn Single submitter Inborn genetic diseases
- p.Ser164Arg Single submitter Inborn genetic diseases
- p.Ser213Phe Single submitter Inborn genetic diseases
- p.Ser236Phe Single submitter Inborn genetic diseases
- p.Ser314Thr Single submitter
- p.Ser365Leu Single submitter Inborn genetic diseases
- p.Ser392Pro Single submitter
- p.Ser437Phe Single submitter Inborn genetic diseases
- p.Ser440Arg Single submitter Inborn genetic diseases
- p.Ser455fs Single submitter
- p.Ser80Asn Single submitter peeling skin syndrome 1
- p.Ser92Phe Single submitter Inborn genetic diseases
- p.Thr49Ser Single submitter Inborn genetic diseases
- p.Thr57fs Single submitter peeling skin syndrome 1
- p.Tyr183His Single submitter Inborn genetic diseases
- p.Tyr293Cys Single submitter Inborn genetic diseases
- p.Tyr313Asn Single submitter Inborn genetic diseases
- p.Val12Ala Single submitter