CCSER2 — 132 ClinVar variants
All ClinVar germline CCSER2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
7 Likely benign · 125 Uncertain significance
Full CCSER2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
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.
- CCSER2 c.2326-13498G>A Uncertain significance Single submitter
- CCSER2 c.2326-13535T>G Uncertain significance Single submitter
- CCSER2 c.2326-13543G>T Uncertain significance Single submitter
- CCSER2 c.2326-13552T>C Uncertain significance Single submitter
- CCSER2 c.2326-13556T>C Uncertain significance Single submitter
- CCSER2 p.Ala190Thr Uncertain significance Single submitter
- CCSER2 p.Ala204Thr Uncertain significance Single submitter
- CCSER2 p.Arg266Gln Uncertain significance Single submitter
- CCSER2 p.Arg316Gly Uncertain significance Single submitter
- CCSER2 p.Arg374Gly Uncertain significance Single submitter
- CCSER2 p.Arg426Gly Uncertain significance Single submitter
- CCSER2 p.Arg494Lys Uncertain significance Single submitter
- CCSER2 p.Arg576Cys Uncertain significance Single submitter
- CCSER2 p.Arg576His Uncertain significance Single submitter
- CCSER2 p.Arg579Gln Uncertain significance Single submitter
- CCSER2 p.Arg582Gly Uncertain significance Single submitter
- CCSER2 p.Arg585Gln Uncertain significance Single submitter
- CCSER2 p.Arg585Trp Uncertain significance Single submitter
- CCSER2 p.Arg773Gln Uncertain significance Single submitter
- CCSER2 p.Arg805Cys Uncertain significance Single submitter
- CCSER2 p.Arg98Cys Uncertain significance Single submitter
- CCSER2 p.Asn281Asp Uncertain significance Single submitter
- CCSER2 p.Asn281Ser Uncertain significance Single submitter
- CCSER2 p.Asn339Thr Uncertain significance Single submitter
- CCSER2 p.Asn341Ser Uncertain significance Single submitter
- CCSER2 p.Asn425Ser Uncertain significance Single submitter
- CCSER2 p.Asn456Ser Uncertain significance Single submitter
- CCSER2 p.Asn656Asp Uncertain significance Single submitter
- CCSER2 p.Asn717Lys Uncertain significance Single submitter
- CCSER2 p.Asn83Lys Uncertain significance Single submitter
- CCSER2 p.Asp559Glu Uncertain significance Single submitter
- CCSER2 p.Asp790Asn Uncertain significance Single submitter
- CCSER2 p.Asp90Val Uncertain significance Single submitter
- CCSER2 p.Asp94Gly Uncertain significance Single submitter
- CCSER2 p.Cys58Trp Uncertain significance Single submitter
- CCSER2 p.Gln257Arg Uncertain significance Single submitter
- CCSER2 p.Gln258Arg Uncertain significance Single submitter
- CCSER2 p.Gln365Arg Uncertain significance Single submitter
- CCSER2 p.Gln447Arg Uncertain significance Single submitter
- CCSER2 p.Glu137Asp Uncertain significance Single submitter
- CCSER2 p.Glu433Gly Uncertain significance Single submitter
- CCSER2 p.Glu655Lys Uncertain significance Single submitter
- CCSER2 p.Glu803Lys Uncertain significance Single submitter
- CCSER2 p.Glu81Asp Uncertain significance Single submitter
- CCSER2 p.Gly103Arg Uncertain significance Single submitter
- CCSER2 p.Gly150Asp Uncertain significance Single submitter
- CCSER2 p.Gly155Asp Uncertain significance Single submitter
- CCSER2 p.Gly332Glu Uncertain significance Single submitter
- CCSER2 p.Gly55Asp Uncertain significance Single submitter
- CCSER2 p.Gly590Ser Uncertain significance Single submitter
- CCSER2 p.Gly639Glu Uncertain significance Single submitter
- CCSER2 p.Gly691Ala Uncertain significance Single submitter
- CCSER2 p.His226Leu Uncertain significance Single submitter
- CCSER2 p.His285Arg Uncertain significance Single submitter
- CCSER2 p.His441Tyr Uncertain significance Single submitter
- CCSER2 p.His604Asn Uncertain significance Single submitter
- CCSER2 p.His749Leu Uncertain significance Single submitter
- CCSER2 p.Ile469Thr Uncertain significance Single submitter
- CCSER2 p.Ile51Val Uncertain significance Single submitter
- CCSER2 p.Ile521Thr Uncertain significance Single submitter
- CCSER2 p.Leu280Val Uncertain significance Single submitter
- CCSER2 p.Leu313Ser Uncertain significance Single submitter
- CCSER2 p.Leu660Pro Uncertain significance Single submitter
- CCSER2 p.Lys14Arg Uncertain significance Single submitter
- CCSER2 p.Lys43Glu Uncertain significance Single submitter
- CCSER2 p.Lys48Arg Uncertain significance Single submitter
- CCSER2 p.Lys48Glu Uncertain significance Single submitter
- CCSER2 p.Lys593Glu Uncertain significance Single submitter
- CCSER2 p.Lys713Arg Uncertain significance Single submitter
- CCSER2 p.Lys91Glu Uncertain significance Single submitter
- CCSER2 p.Met269Val Uncertain significance Single submitter
- CCSER2 p.Met30Val Uncertain significance Single submitter
- CCSER2 p.Met334Val Uncertain significance Single submitter
- CCSER2 p.Met434Val Uncertain significance Single submitter
- CCSER2 p.Met649Lys Uncertain significance Single submitter
- CCSER2 p.Phe643Ser Uncertain significance Single submitter
- CCSER2 p.Pro207Gln Uncertain significance Single submitter
- CCSER2 p.Pro235Ala Uncertain significance Single submitter
- CCSER2 p.Pro307Leu Uncertain significance Single submitter
- CCSER2 p.Pro31Leu Uncertain significance Single submitter
- CCSER2 p.Pro453Ala Uncertain significance Single submitter
- CCSER2 p.Pro561Ser Uncertain significance Single submitter
- CCSER2 p.Pro770Leu Uncertain significance Single submitter
- CCSER2 p.Pro781Ser Uncertain significance Single submitter
- CCSER2 p.Pro799Ser Uncertain significance Single submitter
- CCSER2 p.Pro82Leu Uncertain significance Single submitter
- CCSER2 p.Ser227Thr Uncertain significance Single submitter
- CCSER2 p.Ser274Ala Uncertain significance Single submitter
- CCSER2 p.Ser321Thr Uncertain significance Single submitter
- CCSER2 p.Ser470Asn Uncertain significance Single submitter
- CCSER2 p.Ser692Gly Uncertain significance Single submitter
- CCSER2 p.Thr129Ala Uncertain significance Single submitter
- CCSER2 p.Thr312Ala Uncertain significance Single submitter
- CCSER2 p.Thr335Ala Uncertain significance Single submitter
- CCSER2 p.Thr664Ile Uncertain significance Single submitter
- CCSER2 p.Thr9Arg Uncertain significance Single submitter
- CCSER2 p.Tyr288His Uncertain significance Single submitter
- CCSER2 p.Tyr530Cys Uncertain significance Single submitter
- CCSER2 p.Tyr605Cys Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CCSER2 c.2326-13517C>T Uncertain significance Single submitter
- CCSER2 c.2326-13558C>T Uncertain significance Single submitter
- CCSER2 p.Ala125Gly Uncertain significance Single submitter
- CCSER2 p.Asp505Gly Uncertain significance Single submitter
- CCSER2 p.Asp508Glu Uncertain significance Single submitter
- CCSER2 p.Asp559Gly Uncertain significance Single submitter
- CCSER2 p.Gln678Arg Uncertain significance Single submitter
- CCSER2 p.Glu439Ala Uncertain significance Single submitter
- CCSER2 p.Glu730Lys Uncertain significance Single submitter
- CCSER2 p.Glu742Lys Uncertain significance Single submitter
- CCSER2 p.Ile724Met Uncertain significance Single submitter
- CCSER2 p.Met218Thr Uncertain significance Single submitter
- CCSER2 p.Pro127Ser Uncertain significance Single submitter
- CCSER2 p.Pro631Ala Uncertain significance Single submitter
- CCSER2 p.Pro631Thr Uncertain significance Single submitter
- CCSER2 p.Ser212Phe Uncertain significance Single submitter
- CCSER2 p.Ser22Phe Uncertain significance Single submitter
- CCSER2 p.Ser237Cys Uncertain significance Single submitter
- CCSER2 p.Ser321Cys Uncertain significance Single submitter
- CCSER2 p.Ser472Cys Uncertain significance Single submitter
- CCSER2 p.Ser49Arg Uncertain significance Single submitter
- CCSER2 p.Ser625Thr Uncertain significance Single submitter
- CCSER2 p.Ser704Cys Uncertain significance Single submitter
- CCSER2 p.Thr239Ile Uncertain significance Single submitter
- CCSER2 p.Thr312Ile Uncertain significance Single submitter
- CCSER2 p.Tyr613Cys Uncertain significance Single submitter
All CCSER2 variants
Likely benign 7
- p.Ala459Val Single submitter
- p.Arg805His Single submitter
- p.Asn167Ser Single submitter
- p.Gln800= Single submitter
- p.Ile213Val Single submitter
- p.Lys713Gln Single submitter
- p.Met387Ile Single submitter
Uncertain significance 125
- c.2326-13498G>A Single submitter ⚠
- c.2326-13517C>T Single submitter ⚠
- c.2326-13535T>G Single submitter ⚠
- c.2326-13543G>T Single submitter ⚠
- c.2326-13552T>C Single submitter ⚠
- c.2326-13556T>C Single submitter ⚠
- c.2326-13558C>T Single submitter ⚠
- p.Ala125Gly Single submitter ⚠
- p.Ala190Thr Single submitter ⚠
- p.Ala204Thr Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg316Gly Single submitter ⚠
- p.Arg374Gly Single submitter ⚠
- p.Arg426Gly Single submitter ⚠
- p.Arg494Lys Single submitter ⚠
- p.Arg576Cys Single submitter ⚠
- p.Arg576His Single submitter ⚠
- p.Arg579Gln Single submitter ⚠
- p.Arg582Gly Single submitter ⚠
- p.Arg585Gln Single submitter ⚠
- p.Arg585Trp Single submitter ⚠
- p.Arg773Gln Single submitter ⚠
- p.Arg805Cys Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Asn281Asp Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asn339Thr Single submitter ⚠
- p.Asn341Ser Single submitter ⚠
- p.Asn425Ser Single submitter ⚠
- p.Asn456Ser Single submitter ⚠
- p.Asn656Asp Single submitter ⚠
- p.Asn717Lys Single submitter ⚠
- p.Asn83Lys Single submitter ⚠
- p.Asp505Gly Single submitter ⚠
- p.Asp508Glu Single submitter ⚠
- p.Asp559Glu Single submitter ⚠
- p.Asp559Gly Single submitter ⚠
- p.Asp790Asn Single submitter ⚠
- p.Asp90Val Single submitter ⚠
- p.Asp94Gly Single submitter ⚠
- p.Cys58Trp Single submitter ⚠
- p.Gln257Arg Single submitter ⚠
- p.Gln258Arg Single submitter ⚠
- p.Gln365Arg Single submitter ⚠
- p.Gln447Arg Single submitter ⚠
- p.Gln678Arg Single submitter ⚠
- p.Glu137Asp Single submitter ⚠
- p.Glu433Gly Single submitter ⚠
- p.Glu439Ala Single submitter ⚠
- p.Glu655Lys Single submitter ⚠
- p.Glu730Lys Single submitter ⚠
- p.Glu742Lys Single submitter ⚠
- p.Glu803Lys Single submitter ⚠
- p.Glu81Asp Single submitter ⚠
- p.Gly103Arg Single submitter ⚠
- p.Gly150Asp Single submitter ⚠
- p.Gly155Asp Single submitter ⚠
- p.Gly332Glu Single submitter ⚠
- p.Gly55Asp Single submitter ⚠
- p.Gly590Ser Single submitter ⚠
- p.Gly639Glu Single submitter ⚠
- p.Gly691Ala Single submitter ⚠
- p.His226Leu Single submitter ⚠
- p.His285Arg Single submitter ⚠
- p.His441Tyr Single submitter ⚠
- p.His604Asn Single submitter ⚠
- p.His749Leu Single submitter ⚠
- p.Ile469Thr Single submitter ⚠
- p.Ile51Val Single submitter ⚠
- p.Ile521Thr Single submitter ⚠
- p.Ile724Met Single submitter ⚠
- p.Leu280Val Single submitter ⚠
- p.Leu313Ser Single submitter ⚠
- p.Leu660Pro Single submitter ⚠
- p.Lys14Arg Single submitter ⚠
- p.Lys43Glu Single submitter ⚠
- p.Lys48Arg Single submitter ⚠
- p.Lys48Glu Single submitter ⚠
- p.Lys593Glu Single submitter ⚠
- p.Lys713Arg Single submitter ⚠
- p.Lys91Glu Single submitter ⚠
- p.Met218Thr Single submitter ⚠
- p.Met269Val Single submitter ⚠
- p.Met30Val Single submitter ⚠
- p.Met334Val Single submitter ⚠
- p.Met434Val Single submitter ⚠
- p.Met649Lys Single submitter ⚠
- p.Phe643Ser Single submitter ⚠
- p.Pro127Ser Single submitter ⚠
- p.Pro207Gln Single submitter ⚠
- p.Pro235Ala Single submitter ⚠
- p.Pro307Leu Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro453Ala Single submitter ⚠
- p.Pro561Ser Single submitter ⚠
- p.Pro631Ala Single submitter ⚠
- p.Pro631Thr Single submitter ⚠
- p.Pro770Leu Single submitter ⚠
- p.Pro781Ser Single submitter ⚠
- p.Pro799Ser Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser212Phe Single submitter ⚠
- p.Ser227Thr Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Ser237Cys Single submitter ⚠
- p.Ser274Ala Single submitter ⚠
- p.Ser321Cys Single submitter ⚠
- p.Ser321Thr Single submitter ⚠
- p.Ser470Asn Single submitter ⚠
- p.Ser472Cys Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser625Thr Single submitter ⚠
- p.Ser692Gly Single submitter ⚠
- p.Ser704Cys Single submitter ⚠
- p.Thr129Ala Single submitter ⚠
- p.Thr239Ile Single submitter ⚠
- p.Thr312Ala Single submitter ⚠
- p.Thr312Ile Single submitter ⚠
- p.Thr335Ala Single submitter ⚠
- p.Thr664Ile Single submitter ⚠
- p.Thr9Arg Single submitter ⚠
- p.Tyr288His Single submitter ⚠
- p.Tyr530Cys Single submitter ⚠
- p.Tyr605Cys Single submitter ⚠
- p.Tyr613Cys Single submitter ⚠