CD101 — 142 ClinVar variants

All ClinVar germline CD101 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

9 Benign · 14 Likely benign · 119 Uncertain significance

Full CD101 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 122

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 58

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 64

The independent predictors disagree with each other — read with care.

All CD101 variants

Benign 9

p.Arg622His Multiple submitters
p.Arg933Gln Multiple submitters ⚠
p.Arg992Trp Multiple submitters ⚠
p.Asn225Ser Multiple submitters
p.Leu362Pro Multiple submitters
p.Ser525Arg Multiple submitters ⚠
p.Ser985= Multiple submitters
p.Tyr651Asp Multiple submitters
p.Leu936= Single submitter

Likely benign 14

p.Ala996Ser Single submitter
p.Arg654His Single submitter
p.Arg702Gln Single submitter ⚠
p.Arg773Gln Single submitter
p.Arg90Gln Single submitter
p.Arg992Gln Single submitter
p.Asn704Ser Single submitter
p.His743Gln Single submitter
p.His883= Single submitter
p.Ile503Val Single submitter
p.Pro313= Single submitter
p.Val222Ile Single submitter
p.Val644Ile Single submitter
p.Gly789= No assertion criteria CD101-related disorder

Uncertain significance 119

p.Ala195Thr Single submitter ⚠
p.Ala359Thr Single submitter ⚠
p.Ala953Pro Single submitter ⚠
p.Arg1011Lys Single submitter ⚠
p.Arg216Trp Single submitter ⚠
p.Arg238Lys Single submitter ⚠
p.Arg386Cys Single submitter ⚠
p.Arg386Pro Single submitter ⚠
p.Arg452Trp Single submitter ⚠
p.Arg518Trp Single submitter ⚠
p.Arg548Cys Single submitter ⚠
p.Arg548His Single submitter ⚠
p.Arg654Cys Single submitter ⚠
p.Arg814Cys Single submitter ⚠
p.Arg833Cys Single submitter ⚠
p.Arg88Trp Single submitter ⚠
p.Arg933Trp Single submitter ⚠
p.Asn556Asp Single submitter ⚠
p.Asp1014His Single submitter ⚠
p.Asp1014Tyr Single submitter ⚠
p.Asp127Gly Single submitter ⚠
p.Asp271Asn Single submitter ⚠
p.Asp291Gly Single submitter ⚠
p.Asp466Val Single submitter ⚠
p.Asp490Asn Single submitter ⚠
p.Asp523Gly Single submitter ⚠
p.Asp646Glu Single submitter ⚠
p.Asp759Val Single submitter ⚠
p.Asp772Asn Single submitter ⚠
p.Cys976Phe Single submitter ⚠
p.Gln188Glu Single submitter ⚠
p.Gln244Arg Single submitter ⚠
p.Gln246Lys Single submitter ⚠
p.Gln278His Single submitter ⚠
p.Gln397Arg Single submitter ⚠
p.Gln49Arg Single submitter ⚠
p.Glu120Lys Single submitter ⚠
p.Glu602Lys Single submitter ⚠
p.Glu855Gly Single submitter ⚠
p.Gly101Asp Single submitter ⚠
p.Gly191Arg Single submitter ⚠
p.Gly3Asp Single submitter ⚠
p.Gly462Cys Single submitter ⚠
p.Gly507Asp Single submitter ⚠
p.Gly567Ser Single submitter ⚠
p.Gly789Asp Single submitter ⚠
p.Gly877Trp Single submitter ⚠
p.His177Asp Single submitter ⚠
p.His404Leu Single submitter ⚠
p.His628Arg Single submitter ⚠
p.His883Asn Single submitter ⚠
p.His883Tyr Single submitter ⚠
p.Ile236Thr Single submitter ⚠
p.Ile530Asn Single submitter ⚠
p.Ile601Val Single submitter ⚠
p.Ile689Met Single submitter ⚠
p.Ile695Thr Single submitter ⚠
p.Ile699Phe Single submitter ⚠
p.Leu247Met Single submitter ⚠
p.Leu443Pro Single submitter ⚠
p.Leu592Val Single submitter ⚠
p.Leu707Ile Single submitter ⚠
p.Leu760Val Single submitter ⚠
p.Leu896Phe Single submitter ⚠
p.Leu956Val Single submitter ⚠
p.Leu968Phe Single submitter ⚠
p.Lys435Glu Single submitter ⚠
p.Lys775Asn Single submitter ⚠
p.Lys797Glu Single submitter ⚠
p.Met263Lys Single submitter ⚠
p.Met383Ile Single submitter ⚠
p.Met934Ile Single submitter ⚠
p.Phe248Leu Single submitter ⚠
p.Pro163Arg Single submitter ⚠
p.Pro63Leu Single submitter ⚠
p.Pro656Leu Single submitter ⚠
p.Pro66Leu Single submitter ⚠
p.Pro672Leu Single submitter ⚠
p.Pro963Ser Single submitter ⚠
p.Ser292Asn Single submitter ⚠
p.Ser398Thr Single submitter ⚠
p.Ser514Cys Single submitter ⚠
p.Ser536Pro Single submitter ⚠
p.Ser544Arg Single submitter ⚠
p.Ser617Leu Single submitter ⚠
p.Ser617Thr Single submitter ⚠
p.Ser619Thr Single submitter ⚠
p.Ser688Phe Single submitter ⚠
p.Ser811Gly Single submitter ⚠
p.Ser887Leu Single submitter ⚠
p.Ser887Pro Single submitter ⚠
p.Thr126Asn Single submitter ⚠
p.Thr196Ala Single submitter ⚠
p.Thr387Lys Single submitter ⚠
p.Thr429Ile Single submitter ⚠
p.Thr504Arg Single submitter ⚠
p.Thr635Ile Single submitter ⚠
p.Thr64Ser Single submitter ⚠
p.Thr67Ser Single submitter ⚠
p.Thr944Ala Single submitter ⚠
p.Trp319Arg Single submitter ⚠
p.Trp319Gly Single submitter ⚠
p.Trp526Arg Single submitter ⚠
p.Trp603Arg Single submitter ⚠
p.Trp791Cys Single submitter ⚠
p.Tyr873Cys Single submitter ⚠
p.Val1007Ala Single submitter ⚠
p.Val104Ile Single submitter ⚠
p.Val413Met Single submitter ⚠
p.Val513Gly Single submitter ⚠
p.Val532Leu Single submitter ⚠
p.Val552Leu Single submitter ⚠
p.Val669Phe Single submitter ⚠
p.Val768Met Single submitter ⚠
p.Val7Gly Single submitter ⚠
p.Val863Met Single submitter ⚠
p.Val893Phe Single submitter ⚠
p.Val938Leu Single submitter ⚠
c.2004_2017+6del No assertion criteria CD101-related disorder