GCGR — 200 ClinVar variants
All ClinVar germline GCGR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 21 Benign · 6 Benign/Likely benign · 65 Likely benign · 100 Uncertain significance
Full GCGR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GCGR p.Ala373Thr Uncertain significance Multiple submitters
- GCGR p.Ala380Thr Uncertain significance Multiple submitters
- GCGR p.Arg324Cys Uncertain significance Multiple submitters
- GCGR p.Arg413Gln Uncertain significance Multiple submitters
- GCGR p.Arg417His Uncertain significance Multiple submitters
- GCGR p.Leu358Val Uncertain significance Multiple submitters
- GCGR p.Phe181Ser Uncertain significance Multiple submitters
- GCGR p.Ala178Thr Uncertain significance Single submitter
- GCGR p.Ala228Val Uncertain significance Single submitter
- GCGR p.Ala335Ser Uncertain significance Single submitter
- GCGR p.Ala366Thr Uncertain significance Single submitter
- GCGR p.Arg111Gln Uncertain significance Single submitter
- GCGR p.Arg116Cys Uncertain significance Single submitter
- GCGR p.Arg201Pro Uncertain significance Single submitter
- GCGR p.Arg324His Uncertain significance Single submitter
- GCGR p.Arg334Gln Uncertain significance Single submitter
- GCGR p.Arg378Pro Uncertain significance Single submitter
- GCGR p.Arg412Gln Uncertain significance Single submitter
- GCGR p.Arg412Trp Uncertain significance Single submitter
- GCGR p.Arg419Cys Uncertain significance Single submitter
- GCGR p.Arg419His Uncertain significance Single submitter
- GCGR p.Arg419Ser Uncertain significance Single submitter
- GCGR p.Arg94Cys Uncertain significance Single submitter
- GCGR p.Asn179His Uncertain significance Single submitter
- GCGR p.Asn179Thr Uncertain significance Single submitter
- GCGR p.Asn251Lys Uncertain significance Single submitter
- GCGR p.Asp124Glu Uncertain significance Single submitter
- GCGR p.Asp299Asn Uncertain significance Single submitter
-
GCGR p.Asp63Asn
Uncertain significance
Single submitter
GCGR-related hyperglucagonemia
- GCGR p.Cys287Tyr Uncertain significance Single submitter
- GCGR p.Gln5Pro Uncertain significance Single submitter
- GCGR p.Gln92Arg Uncertain significance Single submitter
- GCGR p.Glu126Lys Uncertain significance Single submitter
- GCGR p.Glu290Lys Uncertain significance Single submitter
- GCGR p.Gly164Trp Uncertain significance Single submitter
- GCGR p.Gly254Arg Uncertain significance Single submitter
- GCGR p.Gly271Ser Uncertain significance Single submitter
- GCGR p.Gly440Ser Uncertain significance Single submitter
- GCGR p.Gly442Ser Uncertain significance Single submitter
- GCGR p.His433Asp Uncertain significance Single submitter
- GCGR p.His93Gln Uncertain significance Single submitter
- GCGR p.Ile128Met Uncertain significance Single submitter
- GCGR p.Ile355Val Uncertain significance Single submitter
- GCGR p.Ile79Val Uncertain significance Single submitter
- GCGR p.Leu448Pro Uncertain significance Single submitter
- GCGR p.Lys332Asn Uncertain significance Single submitter
- GCGR p.Phe322Ser Uncertain significance Single submitter
- GCGR p.Pro3Leu Uncertain significance Single submitter
- GCGR p.Pro72Ala Uncertain significance Single submitter
- GCGR p.Pro82Leu Uncertain significance Single submitter
- GCGR p.Ser297Thr Uncertain significance Single submitter
- GCGR p.Thr146Ile Uncertain significance Single submitter
- GCGR p.Val107Leu Uncertain significance Single submitter
- GCGR p.Val134Met Uncertain significance Single submitter
- GCGR p.Val236Leu Uncertain significance Single submitter
- GCGR p.Val236Met Uncertain significance Single submitter
- GCGR p.Val280Ile Uncertain significance Single submitter
- GCGR p.Val330Met Uncertain significance Single submitter
- GCGR p.Val368Met Uncertain significance Single submitter
- GCGR p.Val96Met Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- GCGR p.Pro52Thr Uncertain significance Multiple submitters
- GCGR p.Ala18Asp Uncertain significance Single submitter
- GCGR p.Ala73Thr Uncertain significance Single submitter
- GCGR p.Arg412Leu Likely benign Single submitter
- GCGR p.Arg413Trp Uncertain significance Single submitter
- GCGR p.Arg417Cys Uncertain significance Single submitter
- GCGR p.Asp103Asn Uncertain significance Single submitter
- GCGR p.Asp195Glu Uncertain significance Single submitter
- GCGR p.Asp208Tyr Uncertain significance Single submitter
- GCGR p.Asp342Asn Uncertain significance Single submitter
- GCGR p.Asp370Glu Uncertain significance Single submitter
- GCGR p.Glu245Asp Uncertain significance Single submitter
- GCGR p.Glu260Lys Uncertain significance Single submitter
- GCGR p.Gly112Glu Uncertain significance Single submitter
-
GCGR p.Gly234Asp
Uncertain significance
Single submitter
GCGR-related hyperglucagonemia
- GCGR p.Gly273Val Uncertain significance Single submitter
- GCGR p.His88Asn Uncertain significance Single submitter
- GCGR p.Phe141Leu Uncertain significance Single submitter
- GCGR p.Phe391Leu Uncertain significance Single submitter
- GCGR p.Phe97Leu Uncertain significance Single submitter
- GCGR p.Pro69Leu Uncertain significance Single submitter
- GCGR p.Thr172Ile Uncertain significance Single submitter
- GCGR p.Thr54Met Uncertain significance Single submitter
- GCGR p.Thr76Lys Uncertain significance Single submitter
- GCGR p.Thr76Met Conflicting Single submitter
- GCGR p.Val185Met Uncertain significance Single submitter
All GCGR variants
Pathogenic 4
- p.Ala155fs Single submitter GCGR-related hyperglucagonemia
- p.Trp83fs Single submitter GCGR-related hyperglucagonemia
- c.879-1G>A No assertion criteria GCGR-related hyperglucagonemia
- p.Pro86Ser No assertion criteria GCGR-related hyperglucagonemia
Likely pathogenic 2
- c.1176+1_1176+7del Single submitter GCGR-related hyperglucagonemia
- p.Met301fs Single submitter GCGR-related hyperglucagonemia
Conflicting classifications of pathogenicity 2
- p.His416Leu Single submitter ⚠
- p.Thr76Met Single submitter ⚠
Benign 21
- c.1219-5C>T Multiple submitters
- c.878+12C>T Multiple submitters
- p.Ala155= Multiple submitters
- p.Ala228= Multiple submitters
- p.Arg417= Multiple submitters
- p.Phe365= Multiple submitters
- p.Val323= Multiple submitters
- c.1176+17C>T Single submitter
- c.1218+8G>A Single submitter
- c.1219-6C>A Single submitter
- c.393+10C>A Single submitter
- c.657+17G>A Single submitter
- c.949-18C>T Single submitter
- p.Arg261= Single submitter
- p.Arg414His Single submitter
- p.Glu245= Single submitter
- p.Gly442= Single submitter
- p.Leu163= Single submitter
- p.Phe278= Single submitter
- p.Phe62= Single submitter
- p.Pro114Ala Single submitter
Benign/Likely benign 6
- c.1176+15G>A Multiple submitters
- c.163+11del Multiple submitters
- c.61-9G>A Multiple submitters
- p.Asp458His Multiple submitters
- p.Gly40Ser Multiple submitters type 2 diabetes mellitus
- p.Ile270= Multiple submitters
Likely benign 65
- p.Pro259= Multiple submitters
- c.1037+10G>A Single submitter
- c.1037+12G>A Single submitter
- c.1037+9C>T Single submitter
- c.1038-19T>C Single submitter
- c.1176+10C>T Single submitter
- c.1176+11G>A Single submitter
- c.1176+14C>T Single submitter
- c.1176+18G>A Single submitter
- c.1177-13C>T Single submitter
- c.163+19G>A Single submitter
- c.272-11C>G Single submitter
- c.393+10C>T Single submitter
- c.500+10C>T Single submitter
- c.500+20C>T Single submitter
- c.501-12C>T Single submitter
- c.501-4A>C Single submitter
- c.60+8C>T Single submitter
- c.657+10C>T Single submitter
- c.657+15G>A Single submitter
- c.657+16C>T Single submitter
- c.657+9C>T Single submitter
- c.658-10C>T Single submitter
- c.817+9del Single submitter
- c.818-5C>G Single submitter
- c.878+13G>A Single submitter
- c.878+15C>A Single submitter
- c.879-5C>T Single submitter
- p.Ala178= Single submitter
- p.Ala461Val Single submitter
- p.Arg336Gln Single submitter
- p.Arg412Leu Single submitter ⚠
- p.Arg428Gln Single submitter
- p.Asn318= Single submitter
- p.Asn74= Single submitter
- p.Asp103= Single submitter
- p.Asp208= Single submitter
- p.Cys294= Single submitter
- p.Cys81= Single submitter
- p.Gln293= Single submitter
- p.Gly104= Single submitter
- p.Gly164= Single submitter
- p.Gly207= Single submitter
- p.Gly440= Single submitter
- p.His372= Single submitter
- p.His416Arg Single submitter
- p.Leu10= Single submitter
- p.Leu15= Single submitter
- p.Leu158= Single submitter
- p.Leu16= Single submitter
- p.Leu252= Single submitter
- p.Leu329= Single submitter
- p.Lys98= Single submitter
- p.Phe383= Single submitter
- p.Pro310= Single submitter
- p.Pro439= Single submitter
- p.Ser190= Single submitter
- p.Ser379= Single submitter
- p.Ser438Leu Single submitter
- p.Ser48= Single submitter
- p.Thr369= Single submitter
- p.Tyr202= Single submitter
- p.Tyr39= Single submitter
- c.879-4G>A No assertion criteria GCGR-related disorder
- p.His441= No assertion criteria GCGR-related disorder
Uncertain significance 100
- p.Ala373Thr Multiple submitters ⚠
- p.Ala380Thr Multiple submitters ⚠
- p.Arg324Cys Multiple submitters ⚠
- p.Arg413Gln Multiple submitters ⚠
- p.Arg417His Multiple submitters ⚠
- p.Leu358Val Multiple submitters ⚠
- p.Phe181Ser Multiple submitters ⚠
- p.Phe320del Multiple submitters GCGR-related hyperglucagonemia
- p.Pro52Thr Multiple submitters ⚠
- c.164-3C>A Single submitter
- c.272-1G>A Single submitter
- c.61-3C>A Single submitter
- c.817+6T>C Single submitter
- c.878+3G>A Single submitter
- p.Ala155_Gly164del Single submitter
- p.Ala178Thr Single submitter ⚠
- p.Ala18Asp Single submitter ⚠
- p.Ala228Val Single submitter ⚠
- p.Ala335Ser Single submitter ⚠
- p.Ala366Thr Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg201Pro Single submitter ⚠
- p.Arg225His Single submitter
- p.Arg308Gln Single submitter
- p.Arg308Trp Single submitter
- p.Arg324His Single submitter ⚠
- p.Arg334Gln Single submitter ⚠
- p.Arg378Pro Single submitter ⚠
- p.Arg412Gln Single submitter ⚠
- p.Arg412Trp Single submitter ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg417Cys Single submitter ⚠
- p.Arg419Cys Single submitter ⚠
- p.Arg419His Single submitter ⚠
- p.Arg419Ser Single submitter ⚠
- p.Arg94Cys Single submitter ⚠
- p.Asn179His Single submitter ⚠
- p.Asn179Thr Single submitter ⚠
- p.Asn251Lys Single submitter ⚠
- p.Asp103Asn Single submitter ⚠
- p.Asp124Glu Single submitter ⚠
- p.Asp195Glu Single submitter ⚠
- p.Asp208Tyr Single submitter ⚠
- p.Asp299Asn Single submitter ⚠
- p.Asp342Asn Single submitter ⚠
- p.Asp370Glu Single submitter ⚠
- p.Asp63Asn Single submitter GCGR-related hyperglucagonemia ⚠
- p.Cys287Tyr Single submitter ⚠
- p.Gln5Pro Single submitter ⚠
- p.Gln92Arg Single submitter ⚠
- p.Glu126Lys Single submitter ⚠
- p.Glu245Asp Single submitter ⚠
- p.Glu260Lys Single submitter ⚠
- p.Glu290Lys Single submitter ⚠
- p.Gly112Glu Single submitter ⚠
- p.Gly125= Single submitter
- p.Gly164Trp Single submitter ⚠
- p.Gly234Asp Single submitter GCGR-related hyperglucagonemia ⚠
- p.Gly254Arg Single submitter ⚠
- p.Gly271Ser Single submitter ⚠
- p.Gly273Val Single submitter ⚠
- p.Gly359= Single submitter
- p.Gly440Ser Single submitter ⚠
- p.Gly442Ser Single submitter ⚠
- p.His361Tyr Single submitter
- p.His433Asp Single submitter ⚠
- p.His88Asn Single submitter ⚠
- p.His93Gln Single submitter ⚠
- p.Ile128Met Single submitter ⚠
- p.Ile355Val Single submitter ⚠
- p.Ile79Val Single submitter ⚠
- p.Leu448Pro Single submitter ⚠
- p.Lys332Asn Single submitter ⚠
- p.Phe141Leu Single submitter ⚠
- p.Phe322Ser Single submitter ⚠
- p.Phe391Leu Single submitter ⚠
- p.Phe97Leu Single submitter ⚠
- p.Pro356Leu Single submitter
- p.Pro3Leu Single submitter ⚠
- p.Pro69Leu Single submitter ⚠
- p.Pro72Ala Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser297Thr Single submitter ⚠
- p.Thr146Ile Single submitter ⚠
- p.Thr172Ile Single submitter ⚠
- p.Thr54Met Single submitter ⚠
- p.Thr76Lys Single submitter ⚠
- p.Trp304Ter Single submitter
- p.Val107Leu Single submitter ⚠
- p.Val134Met Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val191Met Single submitter
- p.Val236Leu Single submitter ⚠
- p.Val236Met Single submitter ⚠
- p.Val280Ile Single submitter ⚠
- p.Val330Met Single submitter ⚠
- p.Val368Met Single submitter ⚠
- p.Val96Met Single submitter ⚠