MC4R — 288 ClinVar variants
All ClinVar germline MC4R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →
23 Pathogenic · 14 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 29 Conflicting · 3 Benign · 5 Benign/Likely benign · 29 Likely benign · 157 Uncertain significance
Full MC4R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 156
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 vs ClinVar 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MC4R p.Arg165Gln
Pathogenic/Likely pathogenic
Multiple submitters
obesity disorder
-
MC4R p.Ile121Thr
Likely pathogenic
Single submitter
Early onset severe obesity
-
MC4R p.Pro275Ser
Pathogenic
Single submitter
inherited obesity
-
MC4R p.Ser270Phe
Likely pathogenic
Single submitter
Early onset severe obesity
-
MC4R p.Gln43Lys
Likely pathogenic
No assertion criteria
obesity disorder
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MC4R p.Ala175Thr
Conflicting
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Arg305Trp
Conflicting
Single submitter
obesity due to melanocortin 4 receptor deficiency
-
MC4R p.Arg7His
Conflicting
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Asn123Ser Conflicting Single submitter
-
MC4R p.Asn274Ser
Conflicting
Single submitter
obesity disorder
-
MC4R p.Asp37Val
Conflicting
Single submitter
obesity disorder
-
MC4R p.Ile170Val
Conflicting
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Ile226Thr
Conflicting
Single submitter
obesity disorder
-
MC4R p.Ile69Thr
Conflicting
Single submitter
Early onset severe obesity
-
MC4R p.Leu250Gln
Conflicting
Single submitter
obesity disorder
-
MC4R p.Phe202Leu
Conflicting
Single submitter
inherited obesity
-
MC4R p.Pro299His
Conflicting
Single submitter
MC4R-related disorder
- MC4R p.Pro78Leu Conflicting Single submitter
-
MC4R p.Thr112Met
Conflicting
Single submitter
obesity disorder
-
MC4R p.Thr162Ile
Conflicting
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Val166Ile
Conflicting
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MC4R p.Arg18Leu
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Asn240Ser
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Gln156Pro Uncertain significance Multiple submitters
-
MC4R p.Gly231Ser
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Leu141Arg Uncertain significance Multiple submitters
-
MC4R p.Leu300Pro
Uncertain significance
Multiple submitters
MC4R-related disorder
-
MC4R p.Leu54Pro
Uncertain significance
Multiple submitters
obesity disorder
-
MC4R p.Ser295Pro
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Ser4Phe
Uncertain significance
Multiple submitters
Early onset severe obesity
-
MC4R p.Thr11Ala
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Thr5Asn
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Tyr80Cys
Uncertain significance
Multiple submitters
Early onset severe obesity
-
MC4R p.Val253Ile
Uncertain significance
Multiple submitters
obesity disorder
-
MC4R p.Ala135Pro
Uncertain significance
Single submitter
MC4R-related disorder
- MC4R p.Ala176Val Uncertain significance Single submitter
-
MC4R p.Ala27Val
Uncertain significance
Single submitter
Early onset severe obesity
-
MC4R p.Ala68Thr
Uncertain significance
Single submitter
Early onset severe obesity
-
MC4R p.Ala70Asp
Uncertain significance
Single submitter
Early onset severe obesity
- MC4R p.Ala70Val Uncertain significance Single submitter
-
MC4R p.Arg310Lys
Uncertain significance
Single submitter
obesity disorder
-
MC4R p.Arg331Lys
Uncertain significance
Single submitter
Early onset severe obesity
-
MC4R p.Asp146Val
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Cys326Arg
Uncertain significance
Single submitter
Early onset severe obesity
-
MC4R p.Gln115Arg
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Glu308Lys
Uncertain significance
Single submitter
Early onset severe obesity
- MC4R p.Glu42Lys Uncertain significance Single submitter
- MC4R p.Gly238Asp Uncertain significance Single submitter
- MC4R p.Gly243Arg Uncertain significance Single submitter
- MC4R p.Gly8Glu Uncertain significance Single submitter
-
MC4R p.His158Arg
Uncertain significance
Single submitter
Early onset severe obesity
-
MC4R p.His283Tyr
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.His76Pro Uncertain significance Single submitter
-
MC4R p.Ile125Val
Uncertain significance
Single submitter
obesity disorder
- MC4R p.Ile137Val Uncertain significance Single submitter
-
MC4R p.Ile173Val
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Ile195Met Uncertain significance Single submitter
- MC4R p.Ile195Phe Uncertain significance Single submitter
- MC4R p.Ile297Asn Uncertain significance Single submitter
-
MC4R p.Ile317Phe
Uncertain significance
Single submitter
obesity disorder
- MC4R p.Leu140Pro Uncertain significance Single submitter
-
MC4R p.Leu183Phe
Uncertain significance
Single submitter
inherited obesity
-
MC4R p.Leu211His
Uncertain significance
Single submitter
Early onset severe obesity
- MC4R p.Leu211Pro Uncertain significance Single submitter
- MC4R p.Leu322Gln Uncertain significance Single submitter
-
MC4R p.Leu325Ile
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Met215Arg Uncertain significance Single submitter
-
MC4R p.Pro299Ser
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Pro48Leu Uncertain significance Single submitter
- MC4R p.Ser28Arg Uncertain significance Single submitter
- MC4R p.Ser30Phe Uncertain significance Single submitter
- MC4R p.Ser58Asn Uncertain significance Single submitter
-
MC4R p.Thr232Ser
Uncertain significance
Single submitter
Early onset severe obesity
-
MC4R p.Tyr80Ser
Uncertain significance
Single submitter
Early onset severe obesity
- MC4R p.Val163Ile Uncertain significance Single submitter
- MC4R p.Val255Ile Uncertain significance Single submitter
- MC4R p.Val278Met Uncertain significance Single submitter
- MC4R p.Val52Met Uncertain significance Single submitter
-
MC4R p.Val95Ile
Uncertain significance
Single submitter
inherited obesity
-
MC4R p.Ala244Glu
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ala68Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Arg220Ser
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Asn72Ser
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Asp146Asn
Uncertain significance
No assertion criteria
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Glu308Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Gly323Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Gly32Arg
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.His24Asn
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.His76Tyr
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ile195Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ile251Thr
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ile297Thr
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ile317Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Leu207Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Leu286Ser
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Leu304Phe
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Leu60Ser
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Lys314Thr
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Met200Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Met91Lys
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Pro78Arg
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ser127Pro
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ser329Pro
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ser36Cys
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ser36Thr
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Thr203Asn
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Thr203Ile
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Tyr302Phe
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Tyr35His
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Val179Asp
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Val253Phe
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Val50Gly
Uncertain significance
No assertion criteria
MC4R-related disorder
Predictors split 44
The independent predictors disagree with each other — read with care.
-
MC4R p.Arg305Gln
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.His76Arg
Uncertain significance
Multiple submitters
Early onset severe obesity
-
MC4R p.Pro272Arg
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Tyr276Cys
Uncertain significance
Multiple submitters
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Ala154Val Uncertain significance Single submitter
- MC4R p.Ala303Pro Uncertain significance Single submitter
-
MC4R p.Ala303Thr
Likely pathogenic
Single submitter
Early onset severe obesity
- MC4R p.Ala89Thr Uncertain significance Single submitter
- MC4R p.Asn294His Uncertain significance Single submitter
-
MC4R p.Asn74Ile
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Asp122Tyr
Uncertain significance
Single submitter
Early onset severe obesity
- MC4R p.Asp126Asn Uncertain significance Single submitter
- MC4R p.Cys177Phe Uncertain significance Single submitter
-
MC4R p.Cys279Arg
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Cys279Tyr
Uncertain significance
Single submitter
obesity disorder
- MC4R p.Cys84Ser Uncertain significance Single submitter
-
MC4R p.Gly252Ser
Conflicting
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Gly98Arg Conflicting Single submitter
-
MC4R p.Ile137Thr
Conflicting
Single submitter
Early onset severe obesity
-
MC4R p.Ile269Asn
Conflicting
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- MC4R p.Leu288Phe Uncertain significance Single submitter
-
MC4R p.Met161Thr
Likely pathogenic
Single submitter
Early onset severe obesity
-
MC4R p.Met215Ile
Uncertain significance
Single submitter
obesity disorder
-
MC4R p.Met215Val
Uncertain significance
Single submitter
Early onset severe obesity
- MC4R p.Met241Lys Uncertain significance Single submitter
-
MC4R p.Phe284Leu
Likely pathogenic
Single submitter
Early onset severe obesity
- MC4R p.Pro272Leu Likely pathogenic Single submitter
-
MC4R p.Ser180Pro
Likely pathogenic
Single submitter
obesity disorder
-
MC4R p.Ser306Asn
Uncertain significance
Single submitter
Early onset severe obesity
-
MC4R p.Thr150Ile
Conflicting
Single submitter
Obesity, autosomal dominant
- MC4R p.Trp258Arg Uncertain significance Single submitter
- MC4R p.Tyr187His Uncertain significance Single submitter
- MC4R p.Val166Leu Uncertain significance Single submitter
-
MC4R p.Ala135Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ala219Val
Conflicting
No assertion criteria
MC4R-related disorder
-
MC4R p.Ala244Val
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Asn97Asp
Pathogenic
No assertion criteria
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Asp298Asn
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Cys257Ser
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Ile102Ser
Pathogenic
No assertion criteria
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Ile151Thr
Uncertain significance
No assertion criteria
MC4R-related disorder
-
MC4R p.Phe280Leu
Pathogenic
No assertion criteria
obesity disorder
-
MC4R p.Phe51Leu
Likely pathogenic
No assertion criteria
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
-
MC4R p.Tyr287Cys
Uncertain significance
No assertion criteria
MC4R-related disorder
All MC4R variants
Pathogenic 23
- p.Asp90Asn Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Cys271Tyr Multiple submitters MC4R-related disorder
- p.Ile301Thr Multiple submitters
- p.Leu211fs Multiple submitters MC4R-related disorder
- p.Tyr35Ter Multiple submitters obesity disorder
- p.Tyr80Ter Multiple submitters
- p.Asp146fs Single submitter
- p.Cys277Ter Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Gly34fs Single submitter
- p.Ile102Thr Single submitter Early onset severe obesity
- p.Ile69Arg Single submitter Obesity, autosomal dominant
- p.Pro275Ser Single submitter inherited obesity ⚠
- p.Ser136Phe Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Ser19fs Single submitter MC4R-related disorder
- p.Tyr287Ter Single submitter obesity due to melanocortin 4 receptor deficiency
- p.Ala89_Val93del No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Asn17fs No assertion criteria MC4R-related disorder
- p.Asn97Asp No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Gln115fs No assertion criteria MC4R-related disorder
- p.Ile102Ser No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Phe280Leu No assertion criteria obesity disorder ⚠
- p.Ser58Cys No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Thr246fs No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
Pathogenic/Likely pathogenic 14
- p.Arg165Gln Multiple submitters obesity disorder ⚠
- p.Arg165Trp Multiple submitters obesity due to melanocortin 4 receptor deficiency
- p.Cys271Arg Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Gln156Ter Multiple submitters obesity disorder
- p.Glu61Lys Multiple submitters obesity due to melanocortin 4 receptor deficiency
- p.Gly181Asp Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Ile251fs Multiple submitters obesity disorder
- p.Ile316Ser Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Leu140fs Multiple submitters inherited obesity
- p.Phe280fs Multiple submitters obesity due to melanocortin 4 receptor deficiency
- p.Ser116fs Multiple submitters obesity due to melanocortin 4 receptor deficiency
- p.Ser58fs Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Tyr276_Cys277delinsTer Multiple submitters Early onset severe obesity
- p.Ile125Lys No assertion criteria MC4R-related disorder
Likely pathogenic 28
- p.Ala303Thr Single submitter Early onset severe obesity ⚠
- p.Arg236fs Single submitter obesity due to melanocortin 4 receptor deficiency
- p.Asn62Ser Single submitter obesity due to melanocortin 4 receptor deficiency
- p.Cys279fs Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Gln273Ter Single submitter
- p.Gln43Ter Single submitter Early onset severe obesity
- p.Glu308Ter Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Ile121Thr Single submitter Early onset severe obesity ⚠
- p.Ile125Asn Single submitter Early onset severe obesity
- p.Leu86Phe Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Met161Thr Single submitter Early onset severe obesity ⚠
- p.Phe284Leu Single submitter Early onset severe obesity ⚠
- p.Pro260Gln Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Pro272Leu Single submitter ⚠
- p.Ser180fs Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Ser180Pro Single submitter obesity disorder ⚠
- p.Ser270Phe Single submitter Early onset severe obesity ⚠
- p.Ser94Asn Single submitter
- p.Ser99Ter Single submitter MC4R-related disorder
- p.Tyr212Cys Single submitter Early onset severe obesity
- p.Tyr276Ter Single submitter Early onset severe obesity
- p.Tyr302Ter Single submitter obesity due to melanocortin 4 receptor deficiency
- p.Gln43Lys No assertion criteria obesity disorder ⚠
- p.Met91Arg No assertion criteria obesity disorder
- p.Phe51Leu No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Ser109fs No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Ser139Arg No assertion criteria adipositas
- p.Ser20fs No assertion criteria MC4R-related disorder
Conflicting classifications of pathogenicity 29
- p.Ala135= Single submitter obesity disorder
- p.Ala175Thr Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Arg305Trp Single submitter obesity due to melanocortin 4 receptor deficiency ⚠
- p.Arg7His Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Asn123Ser Single submitter ⚠
- p.Asn274Ser Single submitter obesity disorder ⚠
- p.Asp37Val Single submitter obesity disorder ⚠
- p.Gly231fs Single submitter
- p.Gly252Ser Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Gly324= Single submitter obesity disorder
- p.Gly98Arg Single submitter ⚠
- p.Ile137Thr Single submitter Early onset severe obesity ⚠
- p.Ile170Val Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Ile226Thr Single submitter obesity disorder ⚠
- p.Ile269Asn Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Ile69Thr Single submitter Early onset severe obesity ⚠
- p.Leu250Gln Single submitter obesity disorder ⚠
- p.Phe202Leu Single submitter inherited obesity ⚠
- p.Pro299His Single submitter MC4R-related disorder ⚠
- p.Pro78Leu Single submitter ⚠
- p.Ser127Leu Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Thr112Met Single submitter obesity disorder ⚠
- p.Thr150Ile Single submitter Obesity, autosomal dominant ⚠
- p.Thr162Ile Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Thr178= Single submitter obesity disorder
- p.Thr5= Single submitter obesity disorder
- p.Tyr21_Arg22delinsTer Single submitter MC4R-related disorder
- p.Val166Ile Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Ala219Val No assertion criteria MC4R-related disorder ⚠
Benign 3
Benign/Likely benign 5
- p.Gln156= Multiple submitters obesity disorder
- p.Gly252= Multiple submitters
- p.Ile198= Multiple submitters obesity disorder
- p.Ile251Leu Multiple submitters obesity disorder
- p.Val103Ile Multiple submitters obesity disorder
Likely benign 29
- p.Cys279= Multiple submitters
- p.Arg236Cys Single submitter Early onset severe obesity
- p.Arg305= Single submitter
- p.His158= Single submitter
- p.Ser99= Single submitter
- p.Tyr212= Single submitter
- c.-22A>T No assertion criteria MC4R-related disorder
- c.-32A>G No assertion criteria MC4R-related disorder
- c.*9A>G No assertion criteria MC4R-related disorder
- p.Ala219= No assertion criteria MC4R-related disorder
- p.Ala227= No assertion criteria MC4R-related disorder
- p.Asp189= No assertion criteria MC4R-related disorder
- p.Gln43= No assertion criteria MC4R-related disorder
- p.Gly231= No assertion criteria MC4R-related disorder
- p.Gly39= No assertion criteria MC4R-related disorder
- p.Gly8= No assertion criteria MC4R-related disorder
- p.His10= No assertion criteria MC4R-related disorder
- p.His283= No assertion criteria MC4R-related disorder
- p.Ile125= No assertion criteria MC4R-related disorder
- p.Ile151= No assertion criteria MC4R-related disorder
- p.Ile269= No assertion criteria MC4R-related disorder
- p.Ile291= No assertion criteria MC4R-related disorder
- p.Ile297= No assertion criteria MC4R-related disorder
- p.Leu13= No assertion criteria MC4R-related disorder
- p.Leu23= No assertion criteria MC4R-related disorder
- p.Leu54= No assertion criteria MC4R-related disorder
- p.Pro230= No assertion criteria MC4R-related disorder
- p.Tyr153= No assertion criteria MC4R-related disorder
- p.Val278= No assertion criteria MC4R-related disorder
Uncertain significance 157
- c.-121G>A Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- c.-386G>A Multiple submitters obesity disorder
- c.-59G>A Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Arg18Leu Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Arg305Gln Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Asn240Ser Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Gln156Pro Multiple submitters ⚠
- p.Gly231Ser Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.His76Arg Multiple submitters Early onset severe obesity ⚠
- p.Leu141Arg Multiple submitters ⚠
- p.Leu300Pro Multiple submitters MC4R-related disorder ⚠
- p.Leu328Ter Multiple submitters MC4R-related disorder
- p.Leu54Pro Multiple submitters obesity disorder ⚠
- p.Met79Val Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Pro272Arg Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Ser295Pro Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Ser4Phe Multiple submitters Early onset severe obesity ⚠
- p.Thr11Ala Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Thr5Asn Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Tyr276Cys Multiple submitters BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Tyr80Cys Multiple submitters Early onset severe obesity ⚠
- p.Val253Ile Multiple submitters obesity disorder ⚠
- c.-161C>T Single submitter obesity disorder
- c.-176A>G Single submitter obesity disorder
- c.-18T>C Single submitter obesity disorder
- c.-220G>A Single submitter obesity disorder
- c.-263A>G Single submitter obesity disorder
- c.-295A>G Single submitter obesity disorder
- c.-359C>A Single submitter obesity disorder
- c.-360G>A Single submitter obesity disorder
- c.-375G>T Single submitter obesity disorder
- c.-60C>G Single submitter obesity disorder
- c.-64G>A Single submitter obesity disorder
- c.-66C>T Single submitter obesity disorder
- p.Ala135Pro Single submitter MC4R-related disorder ⚠
- p.Ala154Val Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala219Ser Single submitter obesity disorder
- p.Ala259Val Single submitter obesity disorder
- p.Ala27Val Single submitter Early onset severe obesity ⚠
- p.Ala303Pro Single submitter ⚠
- p.Ala68Thr Single submitter Early onset severe obesity ⚠
- p.Ala70Asp Single submitter Early onset severe obesity ⚠
- p.Ala70Val Single submitter ⚠
- p.Ala89Thr Single submitter ⚠
- p.Arg165= Single submitter
- p.Arg310Lys Single submitter obesity disorder ⚠
- p.Arg331Lys Single submitter Early onset severe obesity ⚠
- p.Arg7= Single submitter obesity disorder
- p.Asn294His Single submitter ⚠
- p.Asn74Ile Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Asp122Tyr Single submitter Early onset severe obesity ⚠
- p.Asp126Asn Single submitter ⚠
- p.Asp146Val Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Cys177Phe Single submitter ⚠
- p.Cys279Arg Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Cys279Tyr Single submitter obesity disorder ⚠
- p.Cys326Arg Single submitter Early onset severe obesity ⚠
- p.Cys84Ser Single submitter ⚠
- p.Gln115Arg Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Glu308Lys Single submitter Early onset severe obesity ⚠
- p.Glu42Lys Single submitter ⚠
- p.Gly238Asp Single submitter ⚠
- p.Gly243Arg Single submitter ⚠
- p.Gly8Glu Single submitter ⚠
- p.His158Arg Single submitter Early onset severe obesity ⚠
- p.His283Tyr Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.His76Pro Single submitter ⚠
- p.Ile125Val Single submitter obesity disorder ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile170del Single submitter
- p.Ile173Val Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Ile195Met Single submitter ⚠
- p.Ile195Phe Single submitter ⚠
- p.Ile249= Single submitter
- p.Ile291del Single submitter
- p.Ile297Asn Single submitter ⚠
- p.Ile317Phe Single submitter obesity disorder ⚠
- p.Leu140Pro Single submitter ⚠
- p.Leu183Phe Single submitter inherited obesity ⚠
- p.Leu211His Single submitter Early onset severe obesity ⚠
- p.Leu211Pro Single submitter ⚠
- p.Leu211Val Single submitter
- p.Leu288Phe Single submitter ⚠
- p.Leu322Gln Single submitter ⚠
- p.Leu325Ile Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Met215Arg Single submitter ⚠
- p.Met215Ile Single submitter obesity disorder ⚠
- p.Met215Val Single submitter Early onset severe obesity ⚠
- p.Met241Lys Single submitter ⚠
- p.Met281Thr Single submitter
- p.Phe184= Single submitter
- p.Pro299Ser Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Pro48Leu Single submitter ⚠
- p.Ser127= Single submitter
- p.Ser188Lys Single submitter
- p.Ser28Arg Single submitter ⚠
- p.Ser306Asn Single submitter Early onset severe obesity ⚠
- p.Ser30Phe Single submitter ⚠
- p.Ser58Asn Single submitter ⚠
- p.Thr232Ser Single submitter Early onset severe obesity ⚠
- p.Thr312Ser Single submitter
- p.Trp258Arg Single submitter ⚠
- p.Tyr187His Single submitter ⚠
- p.Tyr212fs Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- p.Tyr80Ser Single submitter Early onset severe obesity ⚠
- p.Val163Ile Single submitter ⚠
- p.Val166Leu Single submitter ⚠
- p.Val255Ile Single submitter ⚠
- p.Val278Met Single submitter ⚠
- p.Val50Met Single submitter
- p.Val52Met Single submitter ⚠
- p.Val67= Single submitter obesity disorder
- p.Val95Ile Single submitter inherited obesity ⚠
- p.Ala135Val No assertion criteria MC4R-related disorder ⚠
- p.Ala244Glu No assertion criteria MC4R-related disorder ⚠
- p.Ala244Val No assertion criteria MC4R-related disorder ⚠
- p.Ala68Val No assertion criteria MC4R-related disorder ⚠
- p.Arg220Ser No assertion criteria MC4R-related disorder ⚠
- p.Asn72Ser No assertion criteria MC4R-related disorder ⚠
- p.Asp146Asn No assertion criteria BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 ⚠
- p.Asp298Asn No assertion criteria MC4R-related disorder ⚠
- p.Cys257Ser No assertion criteria MC4R-related disorder ⚠
- p.Glu308Val No assertion criteria MC4R-related disorder ⚠
- p.Gly323Val No assertion criteria MC4R-related disorder ⚠
- p.Gly32Arg No assertion criteria MC4R-related disorder ⚠
- p.His24Asn No assertion criteria MC4R-related disorder ⚠
- p.His76Tyr No assertion criteria MC4R-related disorder ⚠
- p.Ile151Thr No assertion criteria MC4R-related disorder ⚠
- p.Ile195Val No assertion criteria MC4R-related disorder ⚠
- p.Ile251Thr No assertion criteria MC4R-related disorder ⚠
- p.Ile297Thr No assertion criteria MC4R-related disorder ⚠
- p.Ile317Val No assertion criteria MC4R-related disorder ⚠
- p.Leu207Val No assertion criteria MC4R-related disorder ⚠
- p.Leu286Ser No assertion criteria MC4R-related disorder ⚠
- p.Leu304Phe No assertion criteria MC4R-related disorder ⚠
- p.Leu60Ser No assertion criteria MC4R-related disorder ⚠
- p.Lys314Thr No assertion criteria MC4R-related disorder ⚠
- p.Met1Val No assertion criteria MC4R-related disorder
- p.Met200del No assertion criteria MC4R-related disorder
- p.Met200Val No assertion criteria MC4R-related disorder ⚠
- p.Met91Lys No assertion criteria MC4R-related disorder ⚠
- p.Pro78Arg No assertion criteria MC4R-related disorder ⚠
- p.Ser127Pro No assertion criteria MC4R-related disorder ⚠
- p.Ser188Leu No assertion criteria MC4R-related disorder
- p.Ser191Cys No assertion criteria MC4R-related disorder
- p.Ser329Pro No assertion criteria MC4R-related disorder ⚠
- p.Ser36Cys No assertion criteria MC4R-related disorder ⚠
- p.Ser36Thr No assertion criteria MC4R-related disorder ⚠
- p.Thr203Asn No assertion criteria MC4R-related disorder ⚠
- p.Thr203Ile No assertion criteria MC4R-related disorder ⚠
- p.Tyr287Cys No assertion criteria MC4R-related disorder ⚠
- p.Tyr302Phe No assertion criteria MC4R-related disorder ⚠
- p.Tyr35His No assertion criteria MC4R-related disorder ⚠
- p.Val179Asp No assertion criteria MC4R-related disorder ⚠
- p.Val253Phe No assertion criteria MC4R-related disorder ⚠
- p.Val50Gly No assertion criteria MC4R-related disorder ⚠