C5AR1 — 90 ClinVar variants
All ClinVar germline C5AR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
2 Benign · 1 Benign/Likely benign · 29 Likely benign · 58 Uncertain significance
Full C5AR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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C5AR1 p.Gly106Arg
Uncertain significance
Multiple submitters
C5AR1-related disorder
- C5AR1 p.Ala107Val Uncertain significance Single submitter
- C5AR1 p.Ala164Asp Uncertain significance Single submitter
- C5AR1 p.Ala164Ser Uncertain significance Single submitter
- C5AR1 p.Ala56Ser Uncertain significance Single submitter
- C5AR1 p.Ala79Thr Uncertain significance Single submitter
- C5AR1 p.Ala79Val Uncertain significance Single submitter
- C5AR1 p.Arg175Trp Uncertain significance Single submitter
- C5AR1 p.Arg178Trp Uncertain significance Single submitter
- C5AR1 p.Arg206Pro Uncertain significance Single submitter
- C5AR1 p.Arg206Trp Uncertain significance Single submitter
- C5AR1 p.Arg228Gln Uncertain significance Single submitter
- C5AR1 p.Arg236Gln Uncertain significance Single submitter
- C5AR1 p.Arg310Gln Uncertain significance Single submitter
-
C5AR1 p.Arg34Cys
Uncertain significance
Single submitter
C5AR1-related disorder
- C5AR1 p.Asp133Asn Uncertain significance Single submitter
- C5AR1 p.Asp27Gly Uncertain significance Single submitter
- C5AR1 p.Asp282Val Uncertain significance Single submitter
- C5AR1 p.Gly149Glu Uncertain significance Single submitter
- C5AR1 p.Gly151Ser Uncertain significance Single submitter
- C5AR1 p.His99Tyr Uncertain significance Single submitter
- C5AR1 p.Ile142Phe Uncertain significance Single submitter
- C5AR1 p.Leu315Phe Uncertain significance Single submitter
- C5AR1 p.Lys185Gln Uncertain significance Single submitter
- C5AR1 p.Phe172Tyr Uncertain significance Single submitter
- C5AR1 p.Pro141His Uncertain significance Single submitter
-
C5AR1 p.Pro170His
Uncertain significance
Single submitter
C5AR1-related disorder
- C5AR1 p.Pro273Ser Uncertain significance Single submitter
- C5AR1 p.Pro9Thr Uncertain significance Single submitter
- C5AR1 p.Ser114Ala Uncertain significance Single submitter
- C5AR1 p.Ser231Asn Uncertain significance Single submitter
- C5AR1 p.Ser271Leu Uncertain significance Single submitter
- C5AR1 p.Ser272Leu Uncertain significance Single submitter
- C5AR1 p.Thr235Met Uncertain significance Single submitter
- C5AR1 p.Thr29Asn Uncertain significance Single submitter
- C5AR1 p.Thr336Met Uncertain significance Single submitter
- C5AR1 p.Thr342Ala Uncertain significance Single submitter
- C5AR1 p.Thr347Asn Uncertain significance Single submitter
- C5AR1 p.Thr94Met Uncertain significance Single submitter
- C5AR1 p.Val159Met Uncertain significance Single submitter
- C5AR1 p.Val176Leu Uncertain significance Single submitter
- C5AR1 p.Val186Leu Uncertain significance Single submitter
- C5AR1 p.Val260Gly Uncertain significance Single submitter
- C5AR1 p.Val301Met Uncertain significance Single submitter
- C5AR1 p.Val350Met Uncertain significance Single submitter
- C5AR1 p.Val42Phe Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- C5AR1 p.Arg228Trp Uncertain significance Single submitter
- C5AR1 p.Asp282Glu Uncertain significance Single submitter
- C5AR1 p.Gln259Leu Uncertain significance Single submitter
- C5AR1 p.Ile291Ser Uncertain significance Single submitter
- C5AR1 p.Phe252Leu Uncertain significance Single submitter
- C5AR1 p.Phe44Leu Uncertain significance Single submitter
- C5AR1 p.Ser271Trp Uncertain significance Single submitter
All C5AR1 variants
Benign/Likely benign 1
- p.Val205= Multiple submitters
Likely benign 29
- p.Glu179= Multiple submitters
- p.Thr219= Multiple submitters
- c.3+10G>A Single submitter
- c.4-12G>A Single submitter
- c.4-13C>T Single submitter
- p.Ala150= Single submitter
- p.Ala153= Single submitter
- p.Ala201= Single submitter
- p.Ala88= Single submitter
- p.Asn321= Single submitter
- p.Asn5Ser Single submitter
- p.Asp2Asn Single submitter
- p.Glu326Asp Single submitter
- p.Gly105= Single submitter
- p.Gly189= Single submitter
- p.His194= Single submitter
- p.Ile130= Single submitter
- p.Ile38= Single submitter
- p.Leu117= Single submitter
- p.Leu187Val Single submitter
- p.Leu227= Single submitter
- p.Lys279Asn Single submitter
- p.Phe172= Single submitter
- p.Pro273= Single submitter
- p.Thr217= Single submitter
- p.Thr219Met Single submitter
- p.Tyr121= Single submitter
- p.Val97Ile Single submitter
- p.Ser271= No assertion criteria C5AR1-related disorder
Uncertain significance 58
- p.Gly106Arg Multiple submitters C5AR1-related disorder ⚠
- p.Ala107Val Single submitter ⚠
- p.Ala164Asp Single submitter ⚠
- p.Ala164Ser Single submitter ⚠
- p.Ala56Ser Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Ala79Val Single submitter ⚠
- p.Ala88Val Single submitter
- p.Arg175Trp Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg206Pro Single submitter ⚠
- p.Arg206Trp Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Arg228Trp Single submitter ⚠
- p.Arg236Gln Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg34Cys Single submitter C5AR1-related disorder ⚠
- p.Asn77Ser Single submitter
- p.Asp133Asn Single submitter ⚠
- p.Asp27Gly Single submitter ⚠
- p.Asp282Glu Single submitter ⚠
- p.Asp282Val Single submitter ⚠
- p.Gln259Leu Single submitter ⚠
- p.Gly149Glu Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly304Ser Single submitter
- p.His99Tyr Single submitter ⚠
- p.Ile142Phe Single submitter ⚠
- p.Ile291Ser Single submitter ⚠
- p.Leu315Phe Single submitter ⚠
- p.Lys185Gln Single submitter ⚠
- p.Phe172Tyr Single submitter ⚠
- p.Phe252Leu Single submitter ⚠
- p.Phe44Leu Single submitter ⚠
- p.Pro141His Single submitter ⚠
- p.Pro170His Single submitter C5AR1-related disorder ⚠
- p.Pro273Ser Single submitter ⚠
- p.Pro9Thr Single submitter ⚠
- p.Ser114Ala Single submitter ⚠
- p.Ser231Asn Single submitter ⚠
- p.Ser271Leu Single submitter ⚠
- p.Ser271Trp Single submitter ⚠
- p.Ser272Leu Single submitter ⚠
- p.Thr235Met Single submitter ⚠
- p.Thr29Asn Single submitter ⚠
- p.Thr336Met Single submitter ⚠
- p.Thr342Ala Single submitter ⚠
- p.Thr347Asn Single submitter ⚠
- p.Thr94Met Single submitter ⚠
- p.Val159Met Single submitter ⚠
- p.Val176Leu Single submitter ⚠
- p.Val186Leu Single submitter ⚠
- p.Val260Gly Single submitter ⚠
- p.Val301Met Single submitter ⚠
- p.Val350Met Single submitter ⚠
- p.Val42Phe Single submitter ⚠
- p.Val52Ala Single submitter
- p.Lys313fs No assertion criteria C5AR1-related disorder