CHRM2 — 227 ClinVar variants

All ClinVar germline CHRM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

2 Conflicting · 25 Benign · 1 Benign/Likely benign · 79 Likely benign · 120 Uncertain significance

Full CHRM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 117

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.

Predictors lean, ClinVar uncertain 87

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 28

The independent predictors disagree with each other — read with care.

All CHRM2 variants

Conflicting classifications of pathogenicity 2

p.Thr287Ser Single submitter ⚠
p.Val225Asp Single submitter ⚠

Benign 25

c.-70T>C Multiple submitters
c.*238C>G Multiple submitters
c.*295T>A Multiple submitters
p.Asn183= Multiple submitters
p.Phe152= Multiple submitters
p.Ser350= Multiple submitters
p.Thr399= Multiple submitters
c.-124-41158G>T Single submitter
c.-124-41185G>A Single submitter
c.-124-41317C>T Single submitter
c.-124-41383T>A Single submitter
c.-124-41403TGT[14] Single submitter
c.-124-41403TGT[16] Single submitter
c.-124-41403TGT[17] Single submitter
c.-130C>T Single submitter
c.-267G>A Single submitter
c.-46-187G>C Single submitter
c.-46-306G>T Single submitter
c.-528CA[11] Single submitter
c.-528CA[13] Single submitter
c.-528CA[6] Single submitter
c.-64C>G Single submitter
p.Leu62= Single submitter
p.Pro198= Single submitter
p.Thr369= Single submitter

Benign/Likely benign 1

p.Val231Ile Multiple submitters

Likely benign 79

p.Asp253Asn Multiple submitters
p.Ile417= Multiple submitters
p.Pro372Ala Multiple submitters
p.Tyr18= Multiple submitters
p.Val50= Multiple submitters
c.-116C>T Single submitter
c.-282-69C>T Single submitter
c.-282-74C>G Single submitter
c.-282-84G>C Single submitter
c.-46-187G>T Single submitter
c.-46-202T>C Single submitter
c.-46-328T>C Single submitter
c.-48T>G Single submitter
c.-49A>T Single submitter
c.-528CA[12] Single submitter
c.-92T>C Single submitter
p.Ala193= Single submitter
p.Ala401= Single submitter
p.Ala441= Single submitter
p.Arg381= Single submitter
p.Asn10= Single submitter
p.Asn245= Single submitter
p.Asn78= Single submitter
p.Asp173= Single submitter
p.Asp220Glu Single submitter
p.Asp252= Single submitter
p.Asp268= Single submitter
p.Asp298= Single submitter
p.Asp299= Single submitter
p.Cys443= Single submitter
p.Gln179= Single submitter
p.Gln358= Single submitter
p.Gln371= Single submitter
p.Glu175= Single submitter
p.Glu279= Single submitter
p.Glu318= Single submitter
p.Gly167= Single submitter
p.Gly348= Single submitter
p.Gly40= Single submitter
p.Gly463= Single submitter
p.Gly73= Single submitter
p.Ile116= Single submitter
p.Ile117= Single submitter
p.Ile192= Single submitter
p.Ile39= Single submitter
p.Ile398= Single submitter
p.Ile409= Single submitter
p.Ile71= Single submitter
p.Leu12= Single submitter
p.Leu160= Single submitter
p.Leu205= Single submitter
p.Leu393= Single submitter
p.Leu394= Single submitter
p.Leu442= Single submitter
p.Leu455= Single submitter
p.Leu70= Single submitter
p.Lys374= Single submitter
p.Lys460= Single submitter
p.Phe119= Single submitter
p.Pro128= Single submitter
p.Pro249= Single submitter
p.Pro415= Single submitter
p.Ser213= Single submitter
p.Ser215= Single submitter
p.Ser309= Single submitter
p.Ser380= Single submitter
p.Thr190= Single submitter
p.Thr302= Single submitter
p.Thr323= Single submitter
p.Thr340= Single submitter
p.Thr446= Single submitter
p.Tyr206= Single submitter
p.Tyr60= Single submitter
p.Val199= Single submitter
p.Val29= Single submitter
p.Val344= Single submitter
p.Val36= Single submitter
p.Val421= Single submitter
p.Val57= Single submitter

Uncertain significance 120

p.Ala265Val Multiple submitters ⚠
p.Gln358His Multiple submitters ⚠
p.Glu305Gly Multiple submitters ⚠
p.Gly238Ala Multiple submitters ⚠
p.Gly254Val Multiple submitters ⚠
p.Gly277Glu Multiple submitters ⚠
p.Ile325Phe Multiple submitters ⚠
p.Ile86Thr Multiple submitters ⚠
p.Met142Ile Multiple submitters ⚠
p.Thr203Ile Multiple submitters ⚠
p.Thr420Ser Multiple submitters ⚠
p.Thr5Ala Multiple submitters ⚠
p.Val292_Ser294del Multiple submitters
p.Val344Gly Multiple submitters ⚠
p.Val344Met Multiple submitters ⚠
p.Ala158Val Single submitter ⚠
p.Ala193Thr Single submitter Dilated Cardiomyopathy, Dominant ⚠
p.Ala414Pro Single submitter ⚠
p.Ala464Thr Single submitter ⚠
p.Arg135Gln Single submitter ⚠
p.Arg135Trp Single submitter ⚠
p.Arg211Gln Single submitter ⚠
p.Arg239Lys Single submitter ⚠
p.Arg363Cys Single submitter ⚠
p.Arg363His Single submitter ⚠
p.Arg363Ser Single submitter ⚠
p.Arg381Gln Single submitter ⚠
p.Arg381Leu Single submitter ⚠
p.Arg381Trp Single submitter ⚠
p.Arg52Cys Single submitter ⚠
p.Asn246Lys Single submitter ⚠
p.Asn306His Single submitter ⚠
p.Asn341Asp Single submitter ⚠
p.Asn353Asp Single submitter ⚠
p.Asn3Ser Single submitter ⚠
p.Asn6fs Single submitter
p.Asp229Gly Single submitter ⚠
p.Asp304Val Single submitter ⚠
p.Asp97His Single submitter ⚠
p.Cys324Tyr Single submitter ⚠
p.Cys416Trp Single submitter ⚠
p.Cys429Ser Single submitter ⚠
p.Gln237Glu Single submitter ⚠
p.Gln352Lys Single submitter ⚠
p.Glu175Asp Single submitter ⚠
p.Glu223Asp Single submitter ⚠
p.Glu279Asp Single submitter ⚠
p.Glu318Lys Single submitter ⚠
p.Gly174Ala Single submitter ⚠
p.Gly277Arg Single submitter ⚠
p.Gly73Ser Single submitter ⚠
p.His208Tyr Single submitter ⚠
p.His458Tyr Single submitter ⚠
p.His53Tyr Single submitter ⚠
p.Ile178Leu Single submitter ⚠
p.Ile201Ser Single submitter ⚠
p.Ile217Val Single submitter ⚠
p.Ile240Met Single submitter Dilated Cardiomyopathy, Dominant ⚠
p.Ile240Thr Single submitter ⚠
p.Ile360Met Single submitter ⚠
p.Ile397Val Single submitter cardiomyopathy ⚠
p.Ile39Asn Single submitter ⚠
p.Ile39Phe Single submitter ⚠
p.Ile435Val Single submitter ⚠
p.Ile72Leu Single submitter ⚠
p.Ile86Val Single submitter ⚠
p.Leu129Val Single submitter ⚠
p.Leu312Gln Single submitter ⚠
p.Leu455Ile Single submitter ⚠
p.Lys138Glu Single submitter ⚠
p.Lys218Glu Single submitter ⚠
p.Lys219del Single submitter
p.Lys264Asn Single submitter ⚠
p.Lys383Arg Single submitter ⚠
p.Met139Lys Single submitter ⚠
p.Met139Val Single submitter ⚠
p.Met1Lys Single submitter
p.Met456Ile Single submitter ⚠
p.Met456Leu Single submitter ⚠
p.Phe152Val Single submitter ⚠
p.Phe21Leu Single submitter ⚠
p.Pro224Ser Single submitter ⚠
p.Pro230Thr Single submitter ⚠
p.Pro243Thr Single submitter ⚠
p.Pro249Ser Single submitter ⚠
p.Pro378Leu Single submitter dilated cardiomyopathy 1A ⚠
p.Pro402Leu Single submitter ⚠
p.Pro415Ala Single submitter ⚠
p.Pro415Ser Single submitter ⚠
p.Ser16Asn Single submitter ⚠
p.Ser210Phe Single submitter ⚠
p.Ser213Asn Single submitter ⚠
p.Ser315Pro Single submitter ⚠
p.Ser32Phe Single submitter ⚠
p.Ser349Thr Single submitter ⚠
p.Ser34Ile Single submitter ⚠
p.Ser76Cys Single submitter ⚠
p.Thr15Lys Single submitter ⚠
p.Thr329Ile Single submitter ⚠
p.Thr331Pro Single submitter ⚠
p.Thr331Ser Single submitter ⚠
p.Thr465Ile Single submitter ⚠
p.Trp162Cys Single submitter ⚠
p.Tyr18del Single submitter
p.Tyr83Asp Single submitter ⚠
p.Val133Ile Single submitter ⚠
p.Val166Ile Single submitter ⚠
p.Val168Met Single submitter ⚠
p.Val171Gly Single submitter ⚠
p.Val204Met Single submitter ⚠
p.Val225Ile Single submitter ⚠
p.Val231Ala Single submitter ⚠
p.Val23Leu Single submitter ⚠
p.Val23Met Single submitter ⚠
p.Val241Ala Single submitter ⚠
p.Val292Ile Single submitter ⚠
p.Val344Ala Single submitter ⚠
p.Val346Leu Single submitter ⚠
p.Val36Leu Single submitter ⚠
p.Val57Ile Single submitter ⚠