C1R — 159 ClinVar variants
All ClinVar germline C1R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
14 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 7 Conflicting · 27 Benign · 13 Benign/Likely benign · 50 Likely benign · 42 Uncertain significance
Full C1R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
C1R p.Asp294Asn
Conflicting
Single submitter
C1R-related disorder
-
C1R p.Met112Ile
Conflicting
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C1R p.His642Gln Uncertain significance Multiple submitters
- C1R p.Arg212Gln Uncertain significance Single submitter
-
C1R p.Arg461Ser
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Arg667His Uncertain significance Single submitter
-
C1R p.Asn622Lys
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Asp142Glu Uncertain significance Single submitter
- C1R p.Asp580Glu Uncertain significance Single submitter
- C1R p.Glu196Lys Uncertain significance Single submitter
- C1R p.Glu317Lys Uncertain significance Single submitter
- C1R p.Gly101Glu Uncertain significance Single submitter
- C1R p.His484Leu Uncertain significance Single submitter
- C1R p.Ile21Thr Uncertain significance Single submitter
- C1R p.Leu197Val Uncertain significance Single submitter
- C1R p.Lys151Glu Uncertain significance Single submitter
-
C1R p.Pro216Ala
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
-
C1R p.Ser150Arg
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
-
C1R p.Ser68Phe
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Thr30Ser Uncertain significance Single submitter
-
C1R p.Tyr222Asn
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Tyr38His Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- C1R p.Gly261Arg Benign/Likely benign Multiple submitters
- C1R p.Leu285Met Uncertain significance Multiple submitters
- C1R p.Phe318Cys Uncertain significance Multiple submitters
- C1R p.Pro216Arg Likely benign Multiple submitters
-
C1R p.Ala140Val
Conflicting
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
-
C1R p.Arg149Trp
Conflicting
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Arg177His Likely benign Single submitter
- C1R p.Arg219Cys Uncertain significance Single submitter
- C1R p.Arg219Leu Likely benign Single submitter
- C1R p.Arg301Cys Uncertain significance Single submitter
-
C1R p.Arg301Pro
Pathogenic
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
-
C1R p.Arg401His
Likely benign
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Arg446Gln Uncertain significance Single submitter
- C1R p.Arg446Pro Likely benign Single submitter
- C1R p.Asn572Ile Uncertain significance Single submitter
- C1R p.Asp81Val Uncertain significance Single submitter
- C1R p.Glu123Lys Uncertain significance Single submitter
-
C1R p.Glu181Gly
Likely benign
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
-
C1R p.Glu700Asp
Uncertain significance
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
-
C1R p.Gly93Cys
Conflicting
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Gly93Ser Uncertain significance Single submitter
- C1R p.His163Tyr Likely benign Single submitter
- C1R p.Ile697Met Likely benign Single submitter
- C1R p.Leu218Pro Uncertain significance Single submitter
- C1R p.Leu448Ser Likely benign Single submitter
- C1R p.Lys132Met Uncertain significance Single submitter
-
C1R p.Met112Val
Conflicting
Single submitter
C1R-related disorder
- C1R p.Pro100Leu Uncertain significance Single submitter
-
C1R p.Pro216Thr
Conflicting
Single submitter
Ehlers-Danlos syndrome, periodontal type 1
- C1R p.Pro310Leu Likely benign Single submitter
- C1R p.Pro326Leu Uncertain significance Single submitter
- C1R p.Pro544Leu Uncertain significance Single submitter
- C1R p.Ser292Leu Uncertain significance Single submitter
- C1R p.Tyr204Cys Likely benign Single submitter
-
C1R p.Arg225Gln
Uncertain significance
No assertion criteria
vascular dementia
All C1R variants
Pathogenic 14
- p.Cys338Arg Multiple submitters Ehlers-Danlos syndrome, periodontal type 1
- p.Cys371Trp Multiple submitters Ehlers-Danlos syndrome, periodontal type 1
- p.Arg301Pro Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Arg401_Tyr405delinsHisValIle Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Asp290Gly Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Cys309Trp Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Cys358Phe Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Ile306_Cys309delinsArgThr Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Leu300Pro Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Trp364Cys Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Trp435Arg Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Trp477fs Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Tyr302Cys Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Val50Asp Single submitter Ehlers-Danlos syndrome, periodontal type 1
Pathogenic/Likely pathogenic 1
- p.Gly297Asp Multiple submitters Ehlers-Danlos syndrome, periodontal type 1
Likely pathogenic 5
- p.Cys309Arg Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Cys309Tyr Single submitter
- p.Cys358Tyr Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Cys371Arg Single submitter Ehlers-Danlos syndrome, periodontal type 1
- p.Cys89Arg No assertion criteria Ehlers-Danlos syndrome
Conflicting classifications of pathogenicity 7
- p.Ala140Val Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Arg149Trp Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Asp294Asn Single submitter C1R-related disorder ⚠
- p.Gly93Cys Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Met112Ile Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Met112Val Single submitter C1R-related disorder ⚠
- p.Pro216Thr Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
Benign 27
- c.1038+151T>C Multiple submitters
- c.1038+78T>C Multiple submitters
- c.2+21A>C Multiple submitters
- c.2+27T>A Multiple submitters
- c.232-106T>C Multiple submitters
- c.232-109T>C Multiple submitters
- c.232-196G>A Multiple submitters
- c.232-19C>A Multiple submitters
- p.Asp386Glu Multiple submitters
- p.Ile464= Multiple submitters
- p.Ser152Leu Multiple submitters
- p.Ser206= Multiple submitters
- c.1038+100G>A Single submitter
- c.1349-176del Single submitter
- c.2+13G>A Single submitter
- c.3-10G>A Single submitter
- c.3-154C>G Single submitter
- c.3-19C>G Single submitter
- c.769-8C>T Single submitter
- c.*51del Single submitter
- p.Asp142= Single submitter
- p.Gly595= Single submitter
- p.Leu569= Single submitter
- p.Pro100= Single submitter
- p.Thr52= Single submitter
- p.Tyr546Ter Single submitter
- c.3-93G>A No assertion criteria C1R-related disorder
Benign/Likely benign 13
- c.231+6G>A Multiple submitters Ehlers-Danlos syndrome, periodontal type 1
- c.3-101T>C Multiple submitters
- c.769-18del Multiple submitters
- p.Asn122= Multiple submitters
- p.Asn323= Multiple submitters
- p.Cys406= Multiple submitters
- p.Glu184Lys Multiple submitters
- p.Gly261Arg Multiple submitters ⚠
- p.Ile345Leu Multiple submitters
- p.Leu85= Multiple submitters
- p.Pro379= Multiple submitters
- p.Pro9= Multiple submitters
- p.Ser292= Multiple submitters
Likely benign 50
- p.Pro216Arg Multiple submitters ⚠
- p.Pro9Leu Multiple submitters
- p.Val59Ile Multiple submitters
- c.1038+116G>A Single submitter
- c.1038+120A>G Single submitter
- c.231+17C>A Single submitter
- c.232-18del Single submitter
- c.232-9T>C Single submitter
- c.3-106G>T Single submitter
- c.3-19CT[2] Single submitter
- c.768+7C>A Single submitter
- c.769-19A>C Single submitter
- c.917-16C>G Single submitter
- c.917-7C>T Single submitter
- p.Ala559= Single submitter
- p.Ala659= Single submitter
- p.Arg149Gln Single submitter
- p.Arg177His Single submitter ⚠
- p.Arg219Leu Single submitter ⚠
- p.Arg296Gln Single submitter
- p.Arg401His Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Arg446Pro Single submitter ⚠
- p.Arg463= Single submitter
- p.Asn263= Single submitter
- p.Cys338= Single submitter
- p.Cys89= Single submitter
- p.Glu104Gln Single submitter
- p.Glu181Gly Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Glu700= Single submitter
- p.His163Tyr Single submitter ⚠
- p.His484= Single submitter
- p.His535= Single submitter
- p.Ile697Met Single submitter ⚠
- p.Leu143= Single submitter
- p.Leu276= Single submitter
- p.Leu286= Single submitter
- p.Leu448Ser Single submitter ⚠
- p.Leu691= Single submitter
- p.Lys235Arg Single submitter
- p.Pro310Leu Single submitter ⚠
- p.Pro663= Single submitter
- p.Ser202= Single submitter
- p.Ser79= Single submitter
- p.Thr304= Single submitter
- p.Tyr204Cys Single submitter ⚠
- p.Val50= Single submitter
- p.Val56= Single submitter
- c.916+10C>T No assertion criteria C1R-related disorder
- p.Thr671= No assertion criteria C1R-related disorder
- p.Val8= No assertion criteria C1R-related disorder
Uncertain significance 42
- p.His642Gln Multiple submitters ⚠
- p.Leu285Met Multiple submitters ⚠
- p.Phe318Cys Multiple submitters ⚠
- c.1348+1G>A Single submitter Ehlers-Danlos syndrome, periodontal type 1
- c.424+2T>C Single submitter Ehlers-Danlos syndrome, periodontal type 1
- c.571+1G>T Single submitter
- c.768+5A>C Single submitter
- c.-12G>C Single submitter
- p.Arg212Gln Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg301Cys Single submitter ⚠
- p.Arg446Gln Single submitter ⚠
- p.Arg461Ser Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Arg667His Single submitter ⚠
- p.Asn572Ile Single submitter ⚠
- p.Asn622Lys Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Asp142Glu Single submitter ⚠
- p.Asp580Glu Single submitter ⚠
- p.Asp81Val Single submitter ⚠
- p.Glu123Lys Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu317Lys Single submitter ⚠
- p.Glu700Asp Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Gly101Glu Single submitter ⚠
- p.Gly93Ser Single submitter ⚠
- p.His484Leu Single submitter ⚠
- p.Ile21Thr Single submitter ⚠
- p.Leu197Val Single submitter ⚠
- p.Leu218Pro Single submitter ⚠
- p.Lys132Met Single submitter ⚠
- p.Lys151Glu Single submitter ⚠
- p.Pro100Leu Single submitter ⚠
- p.Pro216Ala Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Pro326Leu Single submitter ⚠
- p.Pro544Leu Single submitter ⚠
- p.Ser150Arg Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Ser292Leu Single submitter ⚠
- p.Ser68Phe Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Thr30Ser Single submitter ⚠
- p.Tyr222Asn Single submitter Ehlers-Danlos syndrome, periodontal type 1 ⚠
- p.Tyr38His Single submitter ⚠
- p.Arg225Gln No assertion criteria vascular dementia ⚠