CCSER1 — 131 ClinVar variants
All ClinVar germline CCSER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →
1 Benign · 5 Likely benign · 125 Uncertain significance
Full CCSER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 127
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 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCSER1 p.Ala238Val Uncertain significance Single submitter
- CCSER1 p.Ala353Val Uncertain significance Single submitter
- CCSER1 p.Ala357Thr Uncertain significance Single submitter
- CCSER1 p.Ala440Val Uncertain significance Single submitter
- CCSER1 p.Ala589Pro Uncertain significance Single submitter
- CCSER1 p.Ala823Thr Uncertain significance Single submitter
- CCSER1 p.Arg14Trp Uncertain significance Single submitter
- CCSER1 p.Arg171Cys Uncertain significance Single submitter
- CCSER1 p.Arg171His Uncertain significance Single submitter
- CCSER1 p.Arg237Gln Uncertain significance Single submitter
- CCSER1 p.Arg325Lys Uncertain significance Single submitter
- CCSER1 p.Arg492Gly Uncertain significance Single submitter
- CCSER1 p.Arg596Gln Uncertain significance Single submitter
- CCSER1 p.Arg711Gly Uncertain significance Single submitter
- CCSER1 p.Arg730Ile Uncertain significance Single submitter
- CCSER1 p.Arg730Ser Uncertain significance Single submitter
- CCSER1 p.Arg766Cys Uncertain significance Single submitter
- CCSER1 p.Arg8Leu Uncertain significance Single submitter
- CCSER1 p.Asn124Ser Uncertain significance Single submitter
- CCSER1 p.Asn144His Uncertain significance Single submitter
- CCSER1 p.Asn290Ser Uncertain significance Single submitter
- CCSER1 p.Asn613His Uncertain significance Single submitter
- CCSER1 p.Asn86Ile Uncertain significance Single submitter
- CCSER1 p.Asp160Gly Uncertain significance Single submitter
- CCSER1 p.Asp285Asn Uncertain significance Single submitter
- CCSER1 p.Asp3His Uncertain significance Single submitter
- CCSER1 p.Asp479Gly Uncertain significance Single submitter
- CCSER1 p.Asp479Tyr Uncertain significance Single submitter
- CCSER1 p.Asp517His Uncertain significance Single submitter
- CCSER1 p.Asp584Gly Uncertain significance Single submitter
- CCSER1 p.Asp647Gly Uncertain significance Single submitter
- CCSER1 p.Asp755Gly Uncertain significance Single submitter
- CCSER1 p.Cys316Gly Uncertain significance Single submitter
- CCSER1 p.Cys783Arg Uncertain significance Single submitter
- CCSER1 p.Gln608Arg Uncertain significance Single submitter
- CCSER1 p.Gln774Arg Uncertain significance Single submitter
- CCSER1 p.Gln819His Uncertain significance Single submitter
- CCSER1 p.Glu133Asp Uncertain significance Single submitter
- CCSER1 p.Glu665Gln Uncertain significance Single submitter
- CCSER1 p.Glu81Asp Uncertain significance Single submitter
- CCSER1 p.Glu837Ala Uncertain significance Single submitter
- CCSER1 p.Glu837Lys Uncertain significance Single submitter
- CCSER1 p.Gly288Ser Uncertain significance Single submitter
- CCSER1 p.Gly699Arg Uncertain significance Single submitter
- CCSER1 p.Gly808Val Uncertain significance Single submitter
- CCSER1 p.Gly838Arg Uncertain significance Single submitter
- CCSER1 p.His108Tyr Uncertain significance Single submitter
- CCSER1 p.His362Gln Uncertain significance Single submitter
- CCSER1 p.His426Arg Uncertain significance Single submitter
- CCSER1 p.His433Arg Uncertain significance Single submitter
- CCSER1 p.His760Gln Uncertain significance Single submitter
- CCSER1 p.His888Gln Uncertain significance Single submitter
- CCSER1 p.Ile377Thr Uncertain significance Single submitter
- CCSER1 p.Ile410Phe Uncertain significance Single submitter
- CCSER1 p.Ile68Val Uncertain significance Single submitter
- CCSER1 p.Ile759Arg Uncertain significance Single submitter
- CCSER1 p.Ile871Val Uncertain significance Single submitter
- CCSER1 p.Leu523Arg Uncertain significance Single submitter
- CCSER1 p.Leu552Pro Uncertain significance Single submitter
- CCSER1 p.Leu579Pro Uncertain significance Single submitter
- CCSER1 p.Lys408Glu Uncertain significance Single submitter
- CCSER1 p.Lys580Glu Uncertain significance Single submitter
- CCSER1 p.Lys637Arg Uncertain significance Single submitter
- CCSER1 p.Lys685Gln Uncertain significance Single submitter
- CCSER1 p.Lys706Asn Uncertain significance Single submitter
- CCSER1 p.Lys757Arg Uncertain significance Single submitter
- CCSER1 p.Lys779Asn Uncertain significance Single submitter
- CCSER1 p.Lys835Arg Uncertain significance Single submitter
- CCSER1 p.Met385Val Uncertain significance Single submitter
- CCSER1 p.Phe396Cys Uncertain significance Single submitter
- CCSER1 p.Pro315Leu Uncertain significance Single submitter
- CCSER1 p.Pro338Leu Uncertain significance Single submitter
- CCSER1 p.Pro420Ser Uncertain significance Single submitter
- CCSER1 p.Pro477Leu Uncertain significance Single submitter
- CCSER1 p.Pro650Leu Uncertain significance Single submitter
- CCSER1 p.Pro658Leu Uncertain significance Single submitter
- CCSER1 p.Pro661Leu Uncertain significance Single submitter
- CCSER1 p.Pro668Leu Uncertain significance Single submitter
- CCSER1 p.Ser121Gly Uncertain significance Single submitter
- CCSER1 p.Ser153Asn Uncertain significance Single submitter
- CCSER1 p.Ser227Leu Uncertain significance Single submitter
- CCSER1 p.Ser463Leu Uncertain significance Single submitter
- CCSER1 p.Ser52Gly Uncertain significance Single submitter
- CCSER1 p.Ser618Cys Uncertain significance Single submitter
- CCSER1 p.Ser645Asn Uncertain significance Single submitter
- CCSER1 p.Ser791Asn Uncertain significance Single submitter
- CCSER1 p.Ser88Asn Uncertain significance Single submitter
- CCSER1 p.Ser90Ala Uncertain significance Single submitter
- CCSER1 p.Thr253Ala Uncertain significance Single submitter
- CCSER1 p.Thr311Arg Uncertain significance Single submitter
- CCSER1 p.Thr313Ile Uncertain significance Single submitter
- CCSER1 p.Tyr723Cys Uncertain significance Single submitter
- CCSER1 p.Val147Ile Uncertain significance Single submitter
- CCSER1 p.Val234Ile Uncertain significance Single submitter
- CCSER1 p.Val268Leu Uncertain significance Single submitter
- CCSER1 p.Val39Ala Uncertain significance Single submitter
- CCSER1 p.Val442Ala Uncertain significance Single submitter
- CCSER1 p.Val550Ala Uncertain significance Single submitter
- CCSER1 p.Val659Ile Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CCSER1 p.Ala707Pro Uncertain significance Single submitter
- CCSER1 p.Arg237Trp Uncertain significance Single submitter
- CCSER1 p.Arg451Cys Uncertain significance Single submitter
- CCSER1 p.Arg461Gln Uncertain significance Single submitter
- CCSER1 p.Arg537Trp Uncertain significance Single submitter
- CCSER1 p.Arg822Trp Uncertain significance Single submitter
- CCSER1 p.Arg868Gly Uncertain significance Single submitter
- CCSER1 p.Gln865Arg Uncertain significance Single submitter
- CCSER1 p.Leu636Val Uncertain significance Single submitter
- CCSER1 p.Lys126Thr Uncertain significance Single submitter
- CCSER1 p.Met500Ile Uncertain significance Single submitter
- CCSER1 p.Met520Ile Uncertain significance Single submitter
- CCSER1 p.Pro866Thr Uncertain significance Single submitter
- CCSER1 p.Ser184Cys Uncertain significance Single submitter
- CCSER1 p.Ser244Tyr Uncertain significance Single submitter
- CCSER1 p.Ser269Phe Uncertain significance Single submitter
- CCSER1 p.Ser31Tyr Uncertain significance Single submitter
- CCSER1 p.Ser390Cys Uncertain significance Single submitter
- CCSER1 p.Ser540Leu Uncertain significance Single submitter
- CCSER1 p.Ser600Asn Uncertain significance Single submitter
- CCSER1 p.Ser872Phe Uncertain significance Single submitter
- CCSER1 p.Ser877Ile Uncertain significance Single submitter
- CCSER1 p.Ser9Pro Uncertain significance Single submitter
- CCSER1 p.Thr311Met Likely benign Single submitter
- CCSER1 p.Thr38Ile Uncertain significance Single submitter
- CCSER1 p.Thr633Met Uncertain significance Single submitter
- CCSER1 p.Thr655Met Uncertain significance Single submitter
- CCSER1 p.Thr852Met Likely benign Single submitter
All CCSER1 variants
Benign 1
- p.Val734Ala Multiple submitters
Likely benign 5
- p.Leu337= Single submitter
- p.Ser828Asn Single submitter
- p.Thr311Met Single submitter ⚠
- p.Thr852Met Single submitter ⚠
- p.Val585Ile Single submitter
Uncertain significance 125
- p.Ala238Val Single submitter ⚠
- p.Ala353Val Single submitter ⚠
- p.Ala357Thr Single submitter ⚠
- p.Ala440Val Single submitter ⚠
- p.Ala589Pro Single submitter ⚠
- p.Ala707Pro Single submitter ⚠
- p.Ala823Thr Single submitter ⚠
- p.Arg14Trp Single submitter ⚠
- p.Arg171Cys Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg237Gln Single submitter ⚠
- p.Arg237Trp Single submitter ⚠
- p.Arg325Lys Single submitter ⚠
- p.Arg451Cys Single submitter ⚠
- p.Arg461Gln Single submitter ⚠
- p.Arg492Gly Single submitter ⚠
- p.Arg537Trp Single submitter ⚠
- p.Arg596Gln Single submitter ⚠
- p.Arg711Gly Single submitter ⚠
- p.Arg730Ile Single submitter ⚠
- p.Arg730Ser Single submitter ⚠
- p.Arg766Cys Single submitter ⚠
- p.Arg822Trp Single submitter ⚠
- p.Arg868Gly Single submitter ⚠
- p.Arg8Leu Single submitter ⚠
- p.Asn124Ser Single submitter ⚠
- p.Asn144His Single submitter ⚠
- p.Asn290Ser Single submitter ⚠
- p.Asn613His Single submitter ⚠
- p.Asn86Ile Single submitter ⚠
- p.Asp160Gly Single submitter ⚠
- p.Asp285Asn Single submitter ⚠
- p.Asp3His Single submitter ⚠
- p.Asp479Gly Single submitter ⚠
- p.Asp479Tyr Single submitter ⚠
- p.Asp517His Single submitter ⚠
- p.Asp584Gly Single submitter ⚠
- p.Asp647Gly Single submitter ⚠
- p.Asp755Gly Single submitter ⚠
- p.Cys316Gly Single submitter ⚠
- p.Cys783Arg Single submitter ⚠
- p.Gln608Arg Single submitter ⚠
- p.Gln774Arg Single submitter ⚠
- p.Gln819His Single submitter ⚠
- p.Gln865Arg Single submitter ⚠
- p.Glu133Asp Single submitter ⚠
- p.Glu665Gln Single submitter ⚠
- p.Glu81Asp Single submitter ⚠
- p.Glu837Ala Single submitter ⚠
- p.Glu837Lys Single submitter ⚠
- p.Gly288Ser Single submitter ⚠
- p.Gly699Arg Single submitter ⚠
- p.Gly808Val Single submitter ⚠
- p.Gly838Arg Single submitter ⚠
- p.His108Tyr Single submitter ⚠
- p.His362Gln Single submitter ⚠
- p.His426Arg Single submitter ⚠
- p.His433Arg Single submitter ⚠
- p.His760Gln Single submitter ⚠
- p.His888Gln Single submitter ⚠
- p.Ile377Thr Single submitter ⚠
- p.Ile410Phe Single submitter ⚠
- p.Ile68Val Single submitter ⚠
- p.Ile759Arg Single submitter ⚠
- p.Ile871Val Single submitter ⚠
- p.Leu523Arg Single submitter ⚠
- p.Leu552Pro Single submitter ⚠
- p.Leu579Pro Single submitter ⚠
- p.Leu636Val Single submitter ⚠
- p.Lys126Thr Single submitter ⚠
- p.Lys408Glu Single submitter ⚠
- p.Lys580Glu Single submitter ⚠
- p.Lys637Arg Single submitter ⚠
- p.Lys685Gln Single submitter ⚠
- p.Lys706Asn Single submitter ⚠
- p.Lys757Arg Single submitter ⚠
- p.Lys779Asn Single submitter ⚠
- p.Lys835Arg Single submitter ⚠
- p.Met385Val Single submitter ⚠
- p.Met500Ile Single submitter ⚠
- p.Met520Ile Single submitter ⚠
- p.Phe396Cys Single submitter ⚠
- p.Pro315Leu Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Pro420Ser Single submitter ⚠
- p.Pro477Leu Single submitter ⚠
- p.Pro650Leu Single submitter ⚠
- p.Pro658Leu Single submitter ⚠
- p.Pro661Leu Single submitter ⚠
- p.Pro668Leu Single submitter ⚠
- p.Pro866Thr Single submitter ⚠
- p.Ser121Gly Single submitter ⚠
- p.Ser153Asn Single submitter ⚠
- p.Ser184Cys Single submitter ⚠
- p.Ser227Leu Single submitter ⚠
- p.Ser244Tyr Single submitter ⚠
- p.Ser269Phe Single submitter ⚠
- p.Ser31Tyr Single submitter ⚠
- p.Ser390Cys Single submitter ⚠
- p.Ser463Leu Single submitter ⚠
- p.Ser52Gly Single submitter ⚠
- p.Ser540Leu Single submitter ⚠
- p.Ser600Asn Single submitter ⚠
- p.Ser618Cys Single submitter ⚠
- p.Ser645Asn Single submitter ⚠
- p.Ser791Asn Single submitter ⚠
- p.Ser872Phe Single submitter ⚠
- p.Ser877Ile Single submitter ⚠
- p.Ser88Asn Single submitter ⚠
- p.Ser90Ala Single submitter ⚠
- p.Ser9Pro Single submitter ⚠
- p.Thr253Ala Single submitter ⚠
- p.Thr311Arg Single submitter ⚠
- p.Thr313Ile Single submitter ⚠
- p.Thr38Ile Single submitter ⚠
- p.Thr633Met Single submitter ⚠
- p.Thr655Met Single submitter ⚠
- p.Tyr723Cys Single submitter ⚠
- p.Val147Ile Single submitter ⚠
- p.Val234Ile Single submitter ⚠
- p.Val268Leu Single submitter ⚠
- p.Val39Ala Single submitter ⚠
- p.Val442Ala Single submitter ⚠
- p.Val550Ala Single submitter ⚠
- p.Val659Ile Single submitter ⚠