CGREF1 — 47 ClinVar variants
All ClinVar germline CGREF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
4 Likely benign · 43 Uncertain significance
Full CGREF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CGREF1 p.Ala100Gly Uncertain significance Single submitter
- CGREF1 p.Ala184Val Uncertain significance Single submitter
- CGREF1 p.Ala19Ser Uncertain significance Single submitter
- CGREF1 p.Arg168Gly Uncertain significance Single submitter
- CGREF1 p.Arg70Gln Uncertain significance Single submitter
- CGREF1 p.Gln206Glu Uncertain significance Single submitter
- CGREF1 p.Glu151Gly Uncertain significance Single submitter
- CGREF1 p.Glu295Lys Uncertain significance Single submitter
- CGREF1 p.Glu314Gln Uncertain significance Single submitter
- CGREF1 p.Gly186Asp Uncertain significance Single submitter
- CGREF1 p.Gly223Glu Uncertain significance Single submitter
- CGREF1 p.Gly294Ala Uncertain significance Single submitter
- CGREF1 p.Ile118Thr Uncertain significance Single submitter
- CGREF1 p.Ile140Leu Uncertain significance Single submitter
- CGREF1 p.Met6Ile Uncertain significance Single submitter
- CGREF1 p.Met97Arg Uncertain significance Single submitter
- CGREF1 p.Pro136Leu Uncertain significance Single submitter
- CGREF1 p.Pro158Ser Uncertain significance Single submitter
- CGREF1 p.Pro293Thr Uncertain significance Single submitter
- CGREF1 p.Pro43Leu Uncertain significance Single submitter
- CGREF1 p.Ser109Pro Uncertain significance Single submitter
- CGREF1 p.Thr5Ser Uncertain significance Single submitter
- CGREF1 p.Val150Leu Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CGREF1 p.Asn141Lys Uncertain significance Single submitter
- CGREF1 p.Gln72Leu Uncertain significance Single submitter
- CGREF1 p.Glu124Gln Uncertain significance Single submitter
- CGREF1 p.Glu124Lys Uncertain significance Single submitter
- CGREF1 p.Glu190Ala Uncertain significance Single submitter
- CGREF1 p.Glu46Lys Uncertain significance Single submitter
- CGREF1 p.Glu71Gln Uncertain significance Single submitter
- CGREF1 p.Gly193Ser Uncertain significance Single submitter
- CGREF1 p.Gly210Asp Uncertain significance Single submitter
- CGREF1 p.Gly216Glu Uncertain significance Single submitter
- CGREF1 p.Gly220Glu Uncertain significance Single submitter
- CGREF1 p.Gly223Trp Uncertain significance Single submitter
- CGREF1 p.His34Tyr Uncertain significance Single submitter
- CGREF1 p.Phe142Leu Uncertain significance Single submitter
- CGREF1 p.Pro143Leu Uncertain significance Single submitter
- CGREF1 p.Pro21Leu Uncertain significance Single submitter
- CGREF1 p.Ser170Phe Uncertain significance Single submitter
- CGREF1 p.Thr125Ile Uncertain significance Single submitter
- CGREF1 p.Val218Asp Uncertain significance Single submitter
- CGREF1 p.Val32Met Likely benign Single submitter
All CGREF1 variants
Likely benign 4
- p.Gly153Arg Single submitter
- p.His149= Single submitter
- p.Val311Ile Single submitter
- p.Val32Met Single submitter ⚠
Uncertain significance 43
- p.Ala100Gly Single submitter ⚠
- p.Ala127Val Single submitter
- p.Ala184Val Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Arg168Gly Single submitter ⚠
- p.Arg70Gln Single submitter ⚠
- p.Asn141Lys Single submitter ⚠
- p.Gln206Glu Single submitter ⚠
- p.Gln72Leu Single submitter ⚠
- p.Glu124Gln Single submitter ⚠
- p.Glu124Lys Single submitter ⚠
- p.Glu151Gly Single submitter ⚠
- p.Glu190Ala Single submitter ⚠
- p.Glu295Lys Single submitter ⚠
- p.Glu314Gln Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu71Gln Single submitter ⚠
- p.Gly186Asp Single submitter ⚠
- p.Gly193Ser Single submitter ⚠
- p.Gly210Asp Single submitter ⚠
- p.Gly216Glu Single submitter ⚠
- p.Gly220Glu Single submitter ⚠
- p.Gly223Glu Single submitter ⚠
- p.Gly223Trp Single submitter ⚠
- p.Gly294Ala Single submitter ⚠
- p.His34Tyr Single submitter ⚠
- p.Ile118Thr Single submitter ⚠
- p.Ile140Leu Single submitter ⚠
- p.Met6Ile Single submitter ⚠
- p.Met97Arg Single submitter ⚠
- p.Phe142Leu Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro143Leu Single submitter ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro293Thr Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Ser109Pro Single submitter ⚠
- p.Ser170Phe Single submitter ⚠
- p.Thr125Ile Single submitter ⚠
- p.Thr5Ser Single submitter ⚠
- p.Val150Leu Single submitter ⚠
- p.Val218Asp Single submitter ⚠