CCIN — 82 ClinVar variants
All ClinVar germline CCIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
5 Pathogenic · 1 Benign/Likely benign · 3 Likely benign · 73 Uncertain significance
Full CCIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCIN p.Ala197Val Uncertain significance Single submitter
- CCIN p.Ala200Glu Uncertain significance Single submitter
- CCIN p.Ala417Thr Uncertain significance Single submitter
- CCIN p.Ala536Ser Uncertain significance Single submitter
- CCIN p.Arg106Leu Uncertain significance Single submitter
- CCIN p.Arg130Cys Uncertain significance Single submitter
- CCIN p.Arg135His Uncertain significance Single submitter
- CCIN p.Arg185Cys Uncertain significance Single submitter
- CCIN p.Arg185His Uncertain significance Single submitter
- CCIN p.Arg212Trp Uncertain significance Single submitter
- CCIN p.Arg316Gly Uncertain significance Single submitter
- CCIN p.Arg399Gln Uncertain significance Single submitter
- CCIN p.Arg399Trp Uncertain significance Single submitter
- CCIN p.Arg441Trp Uncertain significance Single submitter
- CCIN p.Asn203Ser Uncertain significance Single submitter
- CCIN p.Asn221Ser Uncertain significance Single submitter
- CCIN p.Asn294Ser Uncertain significance Single submitter
- CCIN p.Asn509Ser Uncertain significance Single submitter
- CCIN p.Asp295Gly Uncertain significance Single submitter
- CCIN p.Asp476Glu Uncertain significance Single submitter
- CCIN p.Cys576Arg Uncertain significance Single submitter
- CCIN p.Gln262Glu Uncertain significance Single submitter
- CCIN p.Gly443Arg Uncertain significance Single submitter
- CCIN p.His42Arg Uncertain significance Single submitter
- CCIN p.Ile223Ser Uncertain significance Single submitter
- CCIN p.Ile428Val Uncertain significance Single submitter
- CCIN p.Ile519Val Uncertain significance Single submitter
- CCIN p.Ile70Val Uncertain significance Single submitter
- CCIN p.Leu142Pro Uncertain significance Single submitter
- CCIN p.Leu284Phe Uncertain significance Single submitter
- CCIN p.Leu405Gln Uncertain significance Single submitter
- CCIN p.Leu56Phe Uncertain significance Single submitter
- CCIN p.Met258Thr Uncertain significance Single submitter
- CCIN p.Phe216Ser Uncertain significance Single submitter
- CCIN p.Phe235Ser Uncertain significance Single submitter
- CCIN p.Pro177Ser Uncertain significance Single submitter
- CCIN p.Pro565Ser Uncertain significance Single submitter
- CCIN p.Ser169Phe Uncertain significance Single submitter
- CCIN p.Ser247Leu Uncertain significance Single submitter
- CCIN p.Ser267Asn Uncertain significance Single submitter
- CCIN p.Thr369Asn Uncertain significance Single submitter
- CCIN p.Thr416Asn Uncertain significance Single submitter
- CCIN p.Tyr438Ser Uncertain significance Single submitter
- CCIN p.Tyr544Asp Uncertain significance Single submitter
- CCIN p.Val151Ile Uncertain significance Single submitter
- CCIN p.Val38Ile Uncertain significance Single submitter
- CCIN p.Val533Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- CCIN p.Arg485Trp Benign/Likely benign Multiple submitters
- CCIN p.Ala200Thr Uncertain significance Single submitter
- CCIN p.Ala299Val Uncertain significance Single submitter
- CCIN p.Arg135Cys Uncertain significance Single submitter
- CCIN p.Arg157Gln Uncertain significance Single submitter
- CCIN p.Arg208Leu Uncertain significance Single submitter
- CCIN p.Arg327His Uncertain significance Single submitter
- CCIN p.Arg395His Uncertain significance Single submitter
- CCIN p.Asn477Ser Uncertain significance Single submitter
- CCIN p.Gln486His Uncertain significance Single submitter
- CCIN p.Gly326Cys Uncertain significance Single submitter
- CCIN p.Gly364Arg Uncertain significance Single submitter
- CCIN p.Ile329Val Uncertain significance Single submitter
- CCIN p.Ile393Val Uncertain significance Single submitter
- CCIN p.Ile411Thr Uncertain significance Single submitter
- CCIN p.Leu134Trp Uncertain significance Single submitter
- CCIN p.Leu252Val Uncertain significance Single submitter
- CCIN p.Leu492Pro Uncertain significance Single submitter
- CCIN p.Phe5Leu Uncertain significance Single submitter
- CCIN p.Pro114Arg Uncertain significance Single submitter
- CCIN p.Pro51Ser Uncertain significance Single submitter
- CCIN p.Thr6Met Uncertain significance Single submitter
- CCIN p.Thr81Ala Uncertain significance Single submitter
- CCIN p.Tyr136His Uncertain significance Single submitter
- CCIN p.Val366Ala Uncertain significance Single submitter
- CCIN p.Val418Ala Uncertain significance Single submitter
- CCIN p.Val418Met Uncertain significance Single submitter
All CCIN variants
Pathogenic 5
- p.Arg432Trp No assertion criteria spermatogenic failure 91
- p.Cys447Ter No assertion criteria spermatogenic failure 91
- p.Gly285Ser No assertion criteria spermatogenic failure 91
- p.His42Leu No assertion criteria spermatogenic failure 91
- p.Leu77Pro No assertion criteria spermatogenic failure 91
Benign/Likely benign 1
- p.Arg485Trp Multiple submitters ⚠
Likely benign 3
- p.Ala65Thr Single submitter
- p.Ser255Asn Single submitter
- p.Val234Met Single submitter
Uncertain significance 73
- p.Ala197Val Single submitter ⚠
- p.Ala200Glu Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala417Thr Single submitter ⚠
- p.Ala536Ser Single submitter ⚠
- p.Arg106Leu Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg135Cys Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg208Leu Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg316Gly Single submitter ⚠
- p.Arg327His Single submitter ⚠
- p.Arg395His Single submitter ⚠
- p.Arg399Gln Single submitter ⚠
- p.Arg399Trp Single submitter ⚠
- p.Arg441Trp Single submitter ⚠
- p.Asn203Ser Single submitter ⚠
- p.Asn221Ser Single submitter ⚠
- p.Asn294Ser Single submitter ⚠
- p.Asn477Ser Single submitter ⚠
- p.Asn509Ser Single submitter ⚠
- p.Asp295Gly Single submitter ⚠
- p.Asp476Glu Single submitter ⚠
- p.Cys576Arg Single submitter ⚠
- p.Gln262Glu Single submitter ⚠
- p.Gln486His Single submitter ⚠
- p.Gly326Cys Single submitter ⚠
- p.Gly364Arg Single submitter ⚠
- p.Gly443Arg Single submitter ⚠
- p.His42Arg Single submitter ⚠
- p.Ile223Ser Single submitter ⚠
- p.Ile329Val Single submitter ⚠
- p.Ile393Val Single submitter ⚠
- p.Ile411Thr Single submitter ⚠
- p.Ile428Val Single submitter ⚠
- p.Ile519Val Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Leu134Trp Single submitter ⚠
- p.Leu142Pro Single submitter ⚠
- p.Leu252Val Single submitter ⚠
- p.Leu284Phe Single submitter ⚠
- p.Leu405Gln Single submitter ⚠
- p.Leu492Pro Single submitter ⚠
- p.Leu56Phe Single submitter ⚠
- p.Met258Thr Single submitter ⚠
- p.Phe216Ser Single submitter ⚠
- p.Phe235Ser Single submitter ⚠
- p.Phe5Leu Single submitter ⚠
- p.Pro114Arg Single submitter ⚠
- p.Pro177Ser Single submitter ⚠
- p.Pro51Ser Single submitter ⚠
- p.Pro565Ser Single submitter ⚠
- p.Ser169Phe Single submitter ⚠
- p.Ser247Leu Single submitter ⚠
- p.Ser267Asn Single submitter ⚠
- p.Thr369Asn Single submitter ⚠
- p.Thr416Asn Single submitter ⚠
- p.Thr6Met Single submitter ⚠
- p.Thr81Ala Single submitter ⚠
- p.Tyr136His Single submitter ⚠
- p.Tyr438Ser Single submitter ⚠
- p.Tyr544Asp Single submitter ⚠
- p.Val151Ile Single submitter ⚠
- p.Val366Ala Single submitter ⚠
- p.Val38Ile Single submitter ⚠
- p.Val418Ala Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Val533Ile Single submitter ⚠