CHRM3 — 147 ClinVar variants
All ClinVar germline CHRM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 9 Benign · 1 Benign/Likely benign · 42 Likely benign · 90 Uncertain significance
Full CHRM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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.
-
CHRM3 p.Val414Met
Conflicting
Single submitter
prune belly syndrome
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHRM3 p.Ala585Thr
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Ala589Asp
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Arg310His
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Arg44Gln
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Arg569Cys
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Arg584His
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Asn444Thr
Uncertain significance
Multiple submitters
prune belly syndrome
- CHRM3 p.Asp353Asn Uncertain significance Multiple submitters
-
CHRM3 p.Gln430His
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Glu274Gln
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Glu276Asp
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Glu294Lys
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Gly417Glu
Uncertain significance
Multiple submitters
prune belly syndrome
- CHRM3 p.Leu401Met Uncertain significance Multiple submitters
-
CHRM3 p.Lys307Asn
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Phe420Ser
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Thr524Ile
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Val435Met
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Val95Ile
Uncertain significance
Multiple submitters
prune belly syndrome
-
CHRM3 p.Ala350Thr
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Ala72Thr Uncertain significance Single submitter
-
CHRM3 p.Arg302Cys
Uncertain significance
Single submitter
prune belly syndrome
-
CHRM3 p.Arg305Ser
Uncertain significance
Single submitter
prune belly syndrome
-
CHRM3 p.Arg310Cys
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Arg44Leu Uncertain significance Single submitter
- CHRM3 p.Arg478Trp Uncertain significance Single submitter
- CHRM3 p.Arg576Gly Uncertain significance Single submitter
- CHRM3 p.Asn379Thr Uncertain significance Single submitter
- CHRM3 p.Asn41Asp Uncertain significance Single submitter
-
CHRM3 p.Asn41Ser
Uncertain significance
Single submitter
prune belly syndrome
-
CHRM3 p.Asp26Asn
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Asp406Glu Uncertain significance Single submitter
-
CHRM3 p.Asp416Asn
Uncertain significance
Single submitter
prune belly syndrome
-
CHRM3 p.Gln329Arg
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Gln430Arg Uncertain significance Single submitter
-
CHRM3 p.Gln562His
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Glu325Lys Uncertain significance Single submitter
-
CHRM3 p.Glu347Asp
Uncertain significance
Single submitter
prune belly syndrome
-
CHRM3 p.Glu354Lys
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Gly267Ser Uncertain significance Single submitter
-
CHRM3 p.Gly38Arg
Uncertain significance
Single submitter
prune belly syndrome
-
CHRM3 p.Gly38Ser
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Gly54Val Uncertain significance Single submitter
- CHRM3 p.Gly85Ser Uncertain significance Single submitter
- CHRM3 p.His282Tyr Uncertain significance Single submitter
- CHRM3 p.Ile147Val Uncertain significance Single submitter
- CHRM3 p.Ile21Met Uncertain significance Single submitter
- CHRM3 p.Ile357Val Uncertain significance Single submitter
- CHRM3 p.Lys382Asn Uncertain significance Single submitter
- CHRM3 p.Lys382Thr Uncertain significance Single submitter
- CHRM3 p.Lys459Arg Uncertain significance Single submitter
-
CHRM3 p.Met398Thr
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Phe197Leu Uncertain significance Single submitter
- CHRM3 p.Pro31Arg Uncertain significance Single submitter
- CHRM3 p.Pro31Leu Uncertain significance Single submitter
- CHRM3 p.Pro506Arg Uncertain significance Single submitter
- CHRM3 p.Ser10Leu Uncertain significance Single submitter
-
CHRM3 p.Ser323Arg
Uncertain significance
Single submitter
prune belly syndrome
-
CHRM3 p.Ser375Arg
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Ser386Leu Uncertain significance Single submitter
-
CHRM3 p.Ser473Cys
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Thr171Arg Uncertain significance Single submitter
-
CHRM3 p.Thr284Met
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Thr317Ala Uncertain significance Single submitter
-
CHRM3 p.Thr317Ile
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Thr361Met Uncertain significance Single submitter
- CHRM3 p.Thr451Met Uncertain significance Single submitter
- CHRM3 p.Thr55Ile Uncertain significance Single submitter
-
CHRM3 p.Tyr176Asn
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Val281Ala Uncertain significance Single submitter
- CHRM3 p.Val281Asp Uncertain significance Single submitter
- CHRM3 p.Val34Ile Uncertain significance Single submitter
- CHRM3 p.Val539Ala Uncertain significance Single submitter
-
CHRM3 p.Val542Met
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Val81Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- CHRM3 p.Asn339Lys Uncertain significance Multiple submitters
-
CHRM3 p.Ala146Thr
Uncertain significance
Single submitter
prune belly syndrome
- CHRM3 p.Ala461Pro Uncertain significance Single submitter
- CHRM3 p.Asn340Lys Uncertain significance Single submitter
-
CHRM3 p.Pro372Leu
Uncertain significance
Single submitter
prune belly syndrome
All CHRM3 variants
Pathogenic 2
- p.Gly118Arg No assertion criteria prune belly syndrome
- p.Pro392fs No assertion criteria prune belly syndrome
Likely pathogenic 1
- p.Val161fs Single submitter prune belly syndrome
Conflicting classifications of pathogenicity 2
- p.Cys520= Single submitter prune belly syndrome
- p.Val414Met Single submitter prune belly syndrome ⚠
Benign 9
- c.-19-130T>C Multiple submitters
- c.*144T>C Multiple submitters
- p.Leu431Pro Multiple submitters
- p.Val65Ile Multiple submitters
- c.*205_*207dup Single submitter
- c.*206_*207dup Single submitter
- p.Asp53= Single submitter
- p.Ile189= Single submitter
- p.Ser386= Single submitter
Benign/Likely benign 1
- p.Thr361= Multiple submitters
Likely benign 42
- p.Asp353= Multiple submitters
- p.Leu110= Multiple submitters prune belly syndrome
- p.Pro384= Multiple submitters prune belly syndrome
- p.Ser227= Multiple submitters prune belly syndrome
- p.Tyr128= Multiple submitters
- p.Ala452Ser Single submitter prune belly syndrome
- p.Ala495= Single submitter
- p.Asn123= Single submitter
- p.Asn379= Single submitter
- p.Asp406Asn Single submitter
- p.Asp415= Single submitter
- p.Glu402= Single submitter
- p.Gly186= Single submitter
- p.His4= Single submitter
- p.Leu139= Single submitter
- p.Leu268= Single submitter
- p.Leu3= Single submitter
- p.Leu396Met Single submitter
- p.Leu456= Single submitter
- p.Leu483= Single submitter
- p.Leu74= Single submitter
- p.Lys556= Single submitter
- p.Lys570Thr Single submitter prune belly syndrome
- p.Phe516= Single submitter
- p.Pro11= Single submitter
- p.Pro173= Single submitter
- p.Pro218= Single submitter
- p.Pro31= Single submitter
- p.Pro372= Single submitter
- p.Pro586= Single submitter
- p.Ser10= Single submitter
- p.Ser299= Single submitter
- p.Thr171= Single submitter
- p.Thr284= Single submitter
- p.Thr451= Single submitter
- p.Thr56= Single submitter
- p.Thr64= Single submitter
- p.Val150= Single submitter
- p.Val443Ile Single submitter
- p.Val542= Single submitter
- p.Ala434= No assertion criteria CHRM3-related disorder
- p.Leu463= No assertion criteria CHRM3-related disorder
Uncertain significance 90
- p.Ala585Thr Multiple submitters prune belly syndrome ⚠
- p.Ala589Asp Multiple submitters prune belly syndrome ⚠
- p.Arg310His Multiple submitters prune belly syndrome ⚠
- p.Arg44Gln Multiple submitters prune belly syndrome ⚠
- p.Arg569Cys Multiple submitters prune belly syndrome ⚠
- p.Arg584His Multiple submitters prune belly syndrome ⚠
- p.Asn339Lys Multiple submitters ⚠
- p.Asn340del Multiple submitters prune belly syndrome
- p.Asn444Thr Multiple submitters prune belly syndrome ⚠
- p.Asp353Asn Multiple submitters ⚠
- p.Gln430His Multiple submitters prune belly syndrome ⚠
- p.Glu274Gln Multiple submitters prune belly syndrome ⚠
- p.Glu276Asp Multiple submitters prune belly syndrome ⚠
- p.Glu294Lys Multiple submitters prune belly syndrome ⚠
- p.Gly417Glu Multiple submitters prune belly syndrome ⚠
- p.Leu401Met Multiple submitters ⚠
- p.Lys307Asn Multiple submitters prune belly syndrome ⚠
- p.Phe420Ser Multiple submitters prune belly syndrome ⚠
- p.Thr524Ile Multiple submitters prune belly syndrome ⚠
- p.Val435Met Multiple submitters prune belly syndrome ⚠
- p.Val95Ile Multiple submitters prune belly syndrome ⚠
- c.-313+2514G>A Single submitter prune belly syndrome
- p.Ala146Thr Single submitter prune belly syndrome ⚠
- p.Ala350Thr Single submitter prune belly syndrome ⚠
- p.Ala461Pro Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Arg302Cys Single submitter prune belly syndrome ⚠
- p.Arg305Ser Single submitter prune belly syndrome ⚠
- p.Arg310Cys Single submitter prune belly syndrome ⚠
- p.Arg44Leu Single submitter ⚠
- p.Arg478Gln Single submitter
- p.Arg478Trp Single submitter ⚠
- p.Arg576Gly Single submitter ⚠
- p.Asn340Lys Single submitter ⚠
- p.Asn379Thr Single submitter ⚠
- p.Asn41Asp Single submitter ⚠
- p.Asn41Ser Single submitter prune belly syndrome ⚠
- p.Asp26Asn Single submitter prune belly syndrome ⚠
- p.Asp406Glu Single submitter ⚠
- p.Asp416Asn Single submitter prune belly syndrome ⚠
- p.Cys290Tyr Single submitter
- p.Cys563Arg Single submitter prune belly syndrome
- p.Gln329Arg Single submitter prune belly syndrome ⚠
- p.Gln430Arg Single submitter ⚠
- p.Gln430Ter Single submitter prune belly syndrome
- p.Gln562His Single submitter prune belly syndrome ⚠
- p.Glu325Lys Single submitter ⚠
- p.Glu347Asp Single submitter prune belly syndrome ⚠
- p.Glu354Lys Single submitter prune belly syndrome ⚠
- p.Gly267Ser Single submitter ⚠
- p.Gly38Arg Single submitter prune belly syndrome ⚠
- p.Gly38Ser Single submitter prune belly syndrome ⚠
- p.Gly54Val Single submitter ⚠
- p.Gly85Ser Single submitter ⚠
- p.His282Tyr Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Ile21Met Single submitter ⚠
- p.Ile357Val Single submitter ⚠
- p.Leu427del Single submitter
- p.Lys382Asn Single submitter ⚠
- p.Lys382Thr Single submitter ⚠
- p.Lys459Arg Single submitter ⚠
- p.Met1Arg Single submitter prune belly syndrome
- p.Met398Thr Single submitter prune belly syndrome ⚠
- p.Phe197Leu Single submitter ⚠
- p.Pro31Arg Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro372Leu Single submitter prune belly syndrome ⚠
- p.Pro506Arg Single submitter ⚠
- p.Ser10Leu Single submitter ⚠
- p.Ser323Arg Single submitter prune belly syndrome ⚠
- p.Ser375Arg Single submitter prune belly syndrome ⚠
- p.Ser386Leu Single submitter ⚠
- p.Ser446= Single submitter prune belly syndrome
- p.Ser473Cys Single submitter prune belly syndrome ⚠
- p.Thr171Arg Single submitter ⚠
- p.Thr284Met Single submitter prune belly syndrome ⚠
- p.Thr317Ala Single submitter ⚠
- p.Thr317Ile Single submitter prune belly syndrome ⚠
- p.Thr361Met Single submitter ⚠
- p.Thr451Met Single submitter ⚠
- p.Thr55Ile Single submitter ⚠
- p.Tyr149= Single submitter prune belly syndrome
- p.Tyr176Asn Single submitter prune belly syndrome ⚠
- p.Val281Ala Single submitter ⚠
- p.Val281Asp Single submitter ⚠
- p.Val34Ile Single submitter ⚠
- p.Val539Ala Single submitter ⚠
- p.Val542Met Single submitter prune belly syndrome ⚠
- p.Val81Ala Single submitter ⚠