CD96 — 189 ClinVar variants
All ClinVar germline CD96 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
1 Pathogenic · 4 Likely pathogenic · 6 Conflicting · 9 Benign · 1 Benign/Likely benign · 45 Likely benign · 123 Uncertain significance
Full CD96 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD96 p.Asp205Gly Uncertain significance Multiple submitters
- CD96 p.Asp224Asn Uncertain significance Multiple submitters
- CD96 p.Lys500Arg Uncertain significance Multiple submitters
- CD96 p.Thr201Ala Uncertain significance Multiple submitters
- CD96 p.Thr26Ala Uncertain significance Multiple submitters
- CD96 p.Val406Leu Uncertain significance Multiple submitters
- CD96 p.Val509Ile Uncertain significance Multiple submitters
- CD96 p.Val61Ile Uncertain significance Multiple submitters
- CD96 c.544-1507T>A Uncertain significance Single submitter
- CD96 p.Ala457Val Uncertain significance Single submitter
- CD96 p.Ala470Asp Uncertain significance Single submitter
- CD96 p.Ala9Val Uncertain significance Single submitter
- CD96 p.Arg471Ser Uncertain significance Single submitter
- CD96 p.Asn32Ser Uncertain significance Single submitter
- CD96 p.Asn428Ser Uncertain significance Single submitter
-
CD96 p.Asn464Asp
Uncertain significance
Single submitter
C syndrome
- CD96 p.Asn63Ser Uncertain significance Single submitter
-
CD96 p.Asp265Gly
Uncertain significance
Single submitter
C syndrome
- CD96 p.Asp560Glu Uncertain significance Single submitter
- CD96 p.Cys118Ser Uncertain significance Single submitter
- CD96 p.Gln193His Uncertain significance Single submitter
- CD96 p.Glu117Gln Uncertain significance Single submitter
- CD96 p.Glu365Gly Uncertain significance Single submitter
- CD96 p.Glu365Lys Uncertain significance Single submitter
- CD96 p.Glu567Gln Uncertain significance Single submitter
- CD96 p.Gly126Asp Uncertain significance Single submitter
- CD96 p.Gly236Ser Uncertain significance Single submitter
- CD96 p.Gly363Val Uncertain significance Single submitter
- CD96 p.Gly426Ser Uncertain significance Single submitter
- CD96 p.Gly435Arg Uncertain significance Single submitter
- CD96 p.Gly435Glu Uncertain significance Single submitter
- CD96 p.Gly458Ser Uncertain significance Single submitter
- CD96 p.Gly51Asp Uncertain significance Single submitter
- CD96 p.Gly51Ser Uncertain significance Single submitter
- CD96 p.Gly521Ser Uncertain significance Single submitter
- CD96 p.Ile16Val Uncertain significance Single submitter
- CD96 p.Ile171Asn Uncertain significance Single submitter
- CD96 p.Ile508Val Uncertain significance Single submitter
- CD96 p.Leu190Phe Uncertain significance Single submitter
-
CD96 p.Leu342Gln
Uncertain significance
Single submitter
C syndrome
- CD96 p.Leu380Phe Uncertain significance Single submitter
- CD96 p.Leu67Met Uncertain significance Single submitter
- CD96 p.Lys170Asn Uncertain significance Single submitter
- CD96 p.Lys239Arg Uncertain significance Single submitter
- CD96 p.Lys248Arg Uncertain significance Single submitter
- CD96 p.Lys298Gln Uncertain significance Single submitter
-
CD96 p.Lys4Asn
Uncertain significance
Single submitter
C syndrome
- CD96 p.Met422Leu Uncertain significance Single submitter
- CD96 p.Met517Val Uncertain significance Single submitter
- CD96 p.Phe427Ser Uncertain significance Single submitter
- CD96 p.Phe520Leu Uncertain significance Single submitter
- CD96 p.Pro371His Uncertain significance Single submitter
- CD96 p.Pro384Leu Uncertain significance Single submitter
- CD96 p.Pro417Ser Uncertain significance Single submitter
- CD96 p.Ser167Thr Uncertain significance Single submitter
- CD96 p.Ser230Phe Uncertain significance Single submitter
- CD96 p.Ser292Gly Uncertain significance Single submitter
- CD96 p.Ser378Ala Uncertain significance Single submitter
- CD96 p.Ser418Gly Uncertain significance Single submitter
- CD96 p.Ser420Ala Uncertain significance Single submitter
- CD96 p.Ser452Leu Uncertain significance Single submitter
- CD96 p.Thr141Arg Uncertain significance Single submitter
- CD96 p.Thr141Lys Uncertain significance Single submitter
- CD96 p.Thr26Ile Uncertain significance Single submitter
- CD96 p.Thr414Ala Uncertain significance Single submitter
- CD96 p.Thr449Ile Uncertain significance Single submitter
- CD96 p.Trp505Cys Uncertain significance Single submitter
-
CD96 p.Tyr11Cys
Uncertain significance
Single submitter
C syndrome
- CD96 p.Tyr302His Uncertain significance Single submitter
- CD96 p.Val249Phe Uncertain significance Single submitter
- CD96 p.Val257Leu Uncertain significance Single submitter
- CD96 p.Val509Ala Uncertain significance Single submitter
-
CD96 p.Ala283Gly
Uncertain significance
No assertion criteria
CD96-related disorder
Predictors split 37
The independent predictors disagree with each other — read with care.
- CD96 c.544-1512C>T Uncertain significance Multiple submitters
- CD96 p.Ile151Thr Uncertain significance Multiple submitters
- CD96 p.Leu120Pro Uncertain significance Multiple submitters
- CD96 p.Pro346Ser Uncertain significance Multiple submitters
- CD96 p.Ser474Leu Uncertain significance Multiple submitters
- CD96 p.Thr29Arg Uncertain significance Multiple submitters
- CD96 c.544-1485G>A Uncertain significance Single submitter
- CD96 p.Ala9Gly Uncertain significance Single submitter
- CD96 p.Arg271Gly Likely benign Single submitter
- CD96 p.Asn334Tyr Uncertain significance Single submitter
- CD96 p.Asn487Tyr Uncertain significance Single submitter
-
CD96 p.Cys515Arg
Uncertain significance
Single submitter
C syndrome
- CD96 p.Glu93Val Uncertain significance Single submitter
- CD96 p.Gly300Arg Uncertain significance Single submitter
- CD96 p.Gly76Ser Uncertain significance Single submitter
- CD96 p.Lys228Gln Uncertain significance Single submitter
- CD96 p.Lys252Glu Uncertain significance Single submitter
- CD96 p.Lys549Glu Uncertain significance Single submitter
- CD96 p.Pro256Ser Uncertain significance Single submitter
-
CD96 p.Pro540Ser
Uncertain significance
Single submitter
C syndrome
- CD96 p.Ser168Pro Uncertain significance Single submitter
-
CD96 p.Ser169Pro
Uncertain significance
Single submitter
C syndrome
- CD96 p.Ser192Cys Uncertain significance Single submitter
- CD96 p.Ser374Arg Likely benign Single submitter
- CD96 p.Ser389Asn Conflicting Single submitter
- CD96 p.Ser420Tyr Uncertain significance Single submitter
- CD96 p.Ser421Arg Uncertain significance Single submitter
- CD96 p.Ser421Cys Uncertain significance Single submitter
- CD96 p.Ser99Pro Uncertain significance Single submitter
- CD96 p.Thr138Ile Uncertain significance Single submitter
- CD96 p.Thr150Lys Uncertain significance Single submitter
- CD96 p.Thr150Met Likely benign Single submitter
- CD96 p.Thr286Ala Uncertain significance Single submitter
- CD96 p.Thr376Ala Uncertain significance Single submitter
- CD96 p.Thr44Ile Likely benign Single submitter
- CD96 p.Thr484Met Conflicting Single submitter
- CD96 p.Val54Met Uncertain significance Single submitter
All CD96 variants
Pathogenic 1
- p.Thr264Met No assertion criteria C syndrome ⚠
Likely pathogenic 4
- c.1321+1G>A Single submitter C syndrome
- c.807+2T>A Single submitter C syndrome
- p.Ser400Ter No assertion criteria C syndrome
- p.Trp179fs No assertion criteria C syndrome
Conflicting classifications of pathogenicity 6
- p.Cys110Tyr Single submitter ⚠
- p.Gln416Leu Single submitter ⚠
- p.Pro162Ser Single submitter C syndrome ⚠
- p.Ser389Asn Single submitter ⚠
- p.Thr484Met Single submitter ⚠
- p.Val19fs Single submitter C syndrome
Benign 9
- c.1181-1G>A Multiple submitters
- c.61+17T>C Multiple submitters
- p.Ala142Pro Multiple submitters
- p.Ala457= Multiple submitters
- p.Gln193Pro Multiple submitters
- p.Pro454= Multiple submitters
- p.Thr322= Multiple submitters
- p.Asn557= Single submitter
- p.Pro417= Single submitter
Benign/Likely benign 1
- c.807+14A>C Multiple submitters C syndrome
Likely benign 45
- p.Asn412= Multiple submitters
- p.Ser59= Multiple submitters
- c.1087+7_1087+9del Single submitter
- c.1388-20T>C Single submitter
- c.1477+17A>G Single submitter
- c.1601+11T>C Single submitter
- c.418+7A>G Single submitter
- c.543+9T>C Single submitter
- c.544-1465C>A Single submitter
- c.544-1499C>A Single submitter
- c.61+15T>C Single submitter
- c.61+18C>T Single submitter
- c.899-13A>G Single submitter
- p.Ala178= Single submitter
- p.Ala80= Single submitter
- p.Arg227Gln Single submitter
- p.Arg234Gly Single submitter
- p.Arg271Gly Single submitter ⚠
- p.Arg425Gln Single submitter
- p.Asn481= Single submitter
- p.Asp296Gly Single submitter
- p.Asp437= Single submitter
- p.Asp463= Single submitter
- p.Cys528= Single submitter
- p.Glu567= Single submitter
- p.Ile491= Single submitter
- p.Leu196Phe Single submitter
- p.Leu275Ser Single submitter
- p.Leu317= Single submitter
- p.Phe272= Single submitter
- p.Ser367= Single submitter
- p.Ser374Arg Single submitter ⚠
- p.Ser39= Single submitter
- p.Thr150= Single submitter
- p.Thr150Met Single submitter ⚠
- p.Thr413= Single submitter
- p.Thr44Ile Single submitter ⚠
- p.Thr479= Single submitter
- p.Thr484= Single submitter
- p.Val19= Single submitter
- p.Val247= Single submitter
- p.Val249= Single submitter
- p.Val495= Single submitter
- c.1180+38A>T No assertion criteria CD96-related disorder
- c.*5G>A No assertion criteria CD96-related disorder
Uncertain significance 123
- c.1249+1G>A Multiple submitters C syndrome
- c.544-1512C>T Multiple submitters ⚠
- p.Asp205Gly Multiple submitters ⚠
- p.Asp224Asn Multiple submitters ⚠
- p.Asp312fs Multiple submitters C syndrome
- p.Ile151Thr Multiple submitters ⚠
- p.Leu120Pro Multiple submitters ⚠
- p.Lys500Arg Multiple submitters ⚠
- p.Pro346Ser Multiple submitters ⚠
- p.Ser474Leu Multiple submitters ⚠
- p.Thr201Ala Multiple submitters ⚠
- p.Thr26Ala Multiple submitters ⚠
- p.Thr29Arg Multiple submitters ⚠
- p.Val406Leu Multiple submitters ⚠
- p.Val509Ile Multiple submitters ⚠
- p.Val61Ile Multiple submitters ⚠
- c.1087+6T>C Single submitter
- c.1181-12T>C Single submitter C syndrome
- c.1322-14T>A Single submitter
- c.1602-7T>A Single submitter
- c.544-1477_544-1459del Single submitter C syndrome
- c.544-1477G>A Single submitter
- c.544-1485G>A Single submitter ⚠
- c.544-1507T>A Single submitter ⚠
- c.544-1528T>G Single submitter
- c.61+4A>G Single submitter
- c.808-17_816del Single submitter
- c.*2092_*2093insGAA Single submitter
- p.Ala457Val Single submitter ⚠
- p.Ala470Asp Single submitter ⚠
- p.Ala9Gly Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg425Ter Single submitter
- p.Arg471Ser Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Asn334Tyr Single submitter ⚠
- p.Asn428Ser Single submitter ⚠
- p.Asn464Asp Single submitter C syndrome ⚠
- p.Asn487Tyr Single submitter ⚠
- p.Asn63Ser Single submitter ⚠
- p.Asp265Gly Single submitter C syndrome ⚠
- p.Asp560Glu Single submitter ⚠
- p.Cys118Ser Single submitter ⚠
- p.Cys515Arg Single submitter C syndrome ⚠
- p.Gln193His Single submitter ⚠
- p.Glu117Gln Single submitter ⚠
- p.Glu365Gly Single submitter ⚠
- p.Glu365Lys Single submitter ⚠
- p.Glu567Gln Single submitter ⚠
- p.Glu93Val Single submitter ⚠
- p.Gly126Asp Single submitter ⚠
- p.Gly236Ser Single submitter ⚠
- p.Gly300Arg Single submitter ⚠
- p.Gly363Val Single submitter ⚠
- p.Gly426Ser Single submitter ⚠
- p.Gly435Arg Single submitter ⚠
- p.Gly435Glu Single submitter ⚠
- p.Gly458Ser Single submitter ⚠
- p.Gly51Asp Single submitter ⚠
- p.Gly51Ser Single submitter ⚠
- p.Gly521Ser Single submitter ⚠
- p.Gly76Ser Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Ile171Asn Single submitter ⚠
- p.Ile240fs Single submitter C syndrome
- p.Ile508Val Single submitter ⚠
- p.Leu190Phe Single submitter ⚠
- p.Leu342Gln Single submitter C syndrome ⚠
- p.Leu380Phe Single submitter ⚠
- p.Leu67Met Single submitter ⚠
- p.Lys170Asn Single submitter ⚠
- p.Lys228Gln Single submitter ⚠
- p.Lys239Arg Single submitter ⚠
- p.Lys248Arg Single submitter ⚠
- p.Lys252Glu Single submitter ⚠
- p.Lys298Gln Single submitter ⚠
- p.Lys328fs Single submitter
- p.Lys4Asn Single submitter C syndrome ⚠
- p.Lys549Glu Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met422Leu Single submitter ⚠
- p.Met517Val Single submitter ⚠
- p.Phe427Ser Single submitter ⚠
- p.Phe520Leu Single submitter ⚠
- p.Pro256_Ile258delinsTer Single submitter
- p.Pro256Ser Single submitter ⚠
- p.Pro371His Single submitter ⚠
- p.Pro384Leu Single submitter ⚠
- p.Pro417Ser Single submitter ⚠
- p.Pro540Ser Single submitter C syndrome ⚠
- p.Ser167Thr Single submitter ⚠
- p.Ser168Pro Single submitter ⚠
- p.Ser169Pro Single submitter C syndrome ⚠
- p.Ser192Cys Single submitter ⚠
- p.Ser230Phe Single submitter ⚠
- p.Ser292Gly Single submitter ⚠
- p.Ser378Ala Single submitter ⚠
- p.Ser418Gly Single submitter ⚠
- p.Ser420_Met422delinsAspTer Single submitter
- p.Ser420Ala Single submitter ⚠
- p.Ser420Tyr Single submitter ⚠
- p.Ser421Arg Single submitter ⚠
- p.Ser421Cys Single submitter ⚠
- p.Ser452Leu Single submitter ⚠
- p.Ser99Pro Single submitter ⚠
- p.Thr138Ile Single submitter ⚠
- p.Thr141Arg Single submitter ⚠
- p.Thr141Lys Single submitter ⚠
- p.Thr150Lys Single submitter ⚠
- p.Thr26Ile Single submitter ⚠
- p.Thr286Ala Single submitter ⚠
- p.Thr376Ala Single submitter ⚠
- p.Thr414Ala Single submitter ⚠
- p.Thr449Ile Single submitter ⚠
- p.Trp505Cys Single submitter ⚠
- p.Trp527Ter Single submitter
- p.Tyr11Cys Single submitter C syndrome ⚠
- p.Tyr302His Single submitter ⚠
- p.Val249Phe Single submitter ⚠
- p.Val257Leu Single submitter ⚠
- p.Val509Ala Single submitter ⚠
- p.Val54Met Single submitter ⚠
- p.Ala283Gly No assertion criteria CD96-related disorder ⚠