MCHR1 — 100 ClinVar variants
All ClinVar germline MCHR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
3 Benign · 16 Likely benign · 81 Uncertain significance
Full MCHR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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MCHR1 p.Val66Met
Uncertain significance
Multiple submitters
MCHR1-related disorder
- MCHR1 c.-107G>A Uncertain significance Single submitter
- MCHR1 c.-129G>C Uncertain significance Single submitter
- MCHR1 c.-17C>T Uncertain significance Single submitter
- MCHR1 c.-32G>A Uncertain significance Single submitter
- MCHR1 c.-32G>T Uncertain significance Single submitter
- MCHR1 c.-42A>T Uncertain significance Single submitter
- MCHR1 c.-51G>A Uncertain significance Single submitter
- MCHR1 c.-63C>G Uncertain significance Single submitter
- MCHR1 c.-83G>A Uncertain significance Single submitter
- MCHR1 c.-95C>T Uncertain significance Single submitter
- MCHR1 p.Ala191Val Uncertain significance Single submitter
- MCHR1 p.Ala226Val Uncertain significance Single submitter
- MCHR1 p.Ala242Thr Uncertain significance Single submitter
- MCHR1 p.Ala242Val Uncertain significance Single submitter
- MCHR1 p.Ala295Val Uncertain significance Single submitter
- MCHR1 p.Arg12Gly Uncertain significance Single submitter
- MCHR1 p.Arg234Cys Uncertain significance Single submitter
- MCHR1 p.Arg234His Uncertain significance Single submitter
- MCHR1 p.Arg335Cys Uncertain significance Single submitter
- MCHR1 p.Asn307Ser Uncertain significance Single submitter
- MCHR1 p.Asn84Ser Uncertain significance Single submitter
- MCHR1 p.Asp22Asn Uncertain significance Single submitter
-
MCHR1 p.Asp344Asn
Uncertain significance
Single submitter
MCHR1-related disorder
- MCHR1 p.Cys262Tyr Uncertain significance Single submitter
- MCHR1 p.Cys74Arg Uncertain significance Single submitter
- MCHR1 p.Gln233Arg Uncertain significance Single submitter
- MCHR1 p.Glu345Gly Uncertain significance Single submitter
- MCHR1 p.Gly11Ala Uncertain significance Single submitter
- MCHR1 p.Gly11Asp Uncertain significance Single submitter
- MCHR1 p.Ile312Val Uncertain significance Single submitter
- MCHR1 p.Ile36Asn Uncertain significance Single submitter
- MCHR1 p.Leu52Phe Uncertain significance Single submitter
- MCHR1 p.Lys8Asn Uncertain significance Single submitter
- MCHR1 p.Met104Val Uncertain significance Single submitter
- MCHR1 p.Met1Thr Uncertain significance Single submitter
- MCHR1 p.Pro12Ser Uncertain significance Single submitter
- MCHR1 p.Ser158Phe Uncertain significance Single submitter
- MCHR1 p.Ser174Thr Uncertain significance Single submitter
- MCHR1 p.Ser246Thr Uncertain significance Single submitter
- MCHR1 p.Ser26Leu Uncertain significance Single submitter
- MCHR1 p.Ser2Leu Uncertain significance Single submitter
- MCHR1 p.Ser325Leu Uncertain significance Single submitter
- MCHR1 p.Ser45Leu Uncertain significance Single submitter
- MCHR1 p.Thr33Met Uncertain significance Single submitter
- MCHR1 p.Thr353Ile Uncertain significance Single submitter
- MCHR1 p.Trp269Ser Uncertain significance Single submitter
- MCHR1 p.Val108Leu Uncertain significance Single submitter
- MCHR1 p.Val239Leu Uncertain significance Single submitter
- MCHR1 p.Val267Leu Uncertain significance Single submitter
-
MCHR1 c.-56C>T
Uncertain significance
No assertion criteria
MCHR1-related disorder
Predictors split 3
The independent predictors disagree with each other — read with care.
All MCHR1 variants
Benign 3
- p.Ala226= Multiple submitters
- p.Gly34Arg Single submitter
- c.-125A>T No assertion criteria MCHR1-related disorder
Likely benign 16
- c.-133G>A Single submitter
- c.-135A>G Single submitter
- c.-153G>A Single submitter
- c.-33C>T Single submitter
- p.Ala336Thr Single submitter
- p.Arg248Gln Single submitter
- p.Gly4Arg Single submitter
- p.Thr342Met Single submitter
- c.-134C>T No assertion criteria MCHR1-related disorder
- c.-69C>G No assertion criteria MCHR1-related disorder
- p.Leu210= No assertion criteria MCHR1-related disorder
- p.Leu94= No assertion criteria MCHR1-related disorder
- p.Phe47= No assertion criteria MCHR1-related disorder
- p.Pro285= No assertion criteria MCHR1-related disorder
- p.Thr288= No assertion criteria MCHR1-related disorder
- p.Thr317= No assertion criteria MCHR1-related disorder
Uncertain significance 81
- p.Val66Met Multiple submitters MCHR1-related disorder ⚠
- c.-107G>A Single submitter ⚠
- c.-122C>G Single submitter
- c.-129G>C Single submitter ⚠
- c.-17C>T Single submitter ⚠
- c.-32G>A Single submitter ⚠
- c.-32G>T Single submitter ⚠
- c.-42A>T Single submitter ⚠
- c.-51G>A Single submitter ⚠
- c.-62A>C Single submitter
- c.-63C>G Single submitter ⚠
- c.-83G>A Single submitter ⚠
- c.-95C>T Single submitter ⚠
- p.Ala136Val Single submitter
- p.Ala182Thr Single submitter
- p.Ala191Val Single submitter ⚠
- p.Ala226Val Single submitter ⚠
- p.Ala242Thr Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala302Val Single submitter
- p.Arg12Gly Single submitter ⚠
- p.Arg155Gln Single submitter
- p.Arg155Trp Single submitter
- p.Arg234Cys Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Arg245Ser Single submitter
- p.Arg248Trp Single submitter
- p.Arg250Trp Single submitter
- p.Arg256Cys Single submitter
- p.Arg284Leu Single submitter
- p.Arg335Cys Single submitter ⚠
- p.Asn307Ser Single submitter ⚠
- p.Asn84Ser Single submitter ⚠
- p.Asp22Asn Single submitter ⚠
- p.Asp344Asn Single submitter MCHR1-related disorder ⚠
- p.Cys165Arg Single submitter ⚠
- p.Cys262Tyr Single submitter ⚠
- p.Cys74Arg Single submitter ⚠
- p.Gln233Arg Single submitter ⚠
- p.Glu345Gly Single submitter ⚠
- p.Gly11Ala Single submitter ⚠
- p.Gly11Asp Single submitter ⚠
- p.Gly189Arg Single submitter
- p.Ile119Phe Single submitter
- p.Ile312Val Single submitter ⚠
- p.Ile36Asn Single submitter ⚠
- p.Ile80Asn Single submitter
- p.Leu103Phe Single submitter ⚠
- p.Leu184Ile Single submitter
- p.Leu280Val Single submitter
- p.Leu306Phe Single submitter
- p.Leu52Phe Single submitter ⚠
- p.Lys8Asn Single submitter ⚠
- p.Met104Val Single submitter ⚠
- p.Met1Thr Single submitter ⚠
- p.Met235Ile Single submitter ⚠
- p.Met99Val Single submitter
- p.Pro12Ser Single submitter ⚠
- p.Pro220Leu Single submitter
- p.Pro78Leu Single submitter
- p.Ser158Phe Single submitter ⚠
- p.Ser174Thr Single submitter ⚠
- p.Ser246Thr Single submitter ⚠
- p.Ser26Leu Single submitter ⚠
- p.Ser2Leu Single submitter ⚠
- p.Ser325Leu Single submitter ⚠
- p.Ser45Leu Single submitter ⚠
- p.Thr117Ile Single submitter
- p.Thr317Met Single submitter
- p.Thr33Met Single submitter ⚠
- p.Thr353Ile Single submitter ⚠
- p.Trp269Ser Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val229Met Single submitter
- p.Val239Leu Single submitter ⚠
- p.Val267Leu Single submitter ⚠
- c.-56C>T No assertion criteria MCHR1-related disorder ⚠
- p.Ala227Thr No assertion criteria MCHR1-related disorder
- p.Arg319Cys No assertion criteria MCHR1-related disorder
- p.Pro177Leu No assertion criteria