CMTR2 — 102 ClinVar variants

All ClinVar germline CMTR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

7 Likely benign · 95 Uncertain significance

Full CMTR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 95

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 67

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 CMTR2 variants

Likely benign 7

p.Arg589His Single submitter
p.Arg600Gln Single submitter
p.Arg635Gln Single submitter
p.Ile401Val Single submitter
p.Lys439Arg Single submitter
p.Ser424Gly Single submitter
p.Trp199Cys Single submitter

Uncertain significance 95

p.Ala16Pro Single submitter ⚠
p.Ala16Thr Single submitter ⚠
p.Ala16Val Single submitter ⚠
p.Ala262Ser Single submitter ⚠
p.Ala31Ser Single submitter ⚠
p.Ala388Val Single submitter ⚠
p.Ala530Gly Single submitter ⚠
p.Ala684Thr Single submitter ⚠
p.Arg162Gln Single submitter ⚠
p.Arg323Gly Single submitter ⚠
p.Arg343Ser Single submitter ⚠
p.Arg380Cys Single submitter ⚠
p.Arg380His Single submitter ⚠
p.Arg415Gly Single submitter ⚠
p.Arg589Cys Single submitter ⚠
p.Arg589Leu Single submitter ⚠
p.Arg589Pro Single submitter ⚠
p.Arg589Ser Single submitter ⚠
p.Arg624Cys Single submitter ⚠
p.Arg635Trp Single submitter ⚠
p.Arg653Gly Single submitter ⚠
p.Arg757Ser Single submitter ⚠
p.Asn139Asp Single submitter ⚠
p.Asn61Ser Single submitter ⚠
p.Asn714Asp Single submitter ⚠
p.Asp21Val Single submitter ⚠
p.Asp716Glu Single submitter ⚠
p.Cys507Ser Single submitter ⚠
p.Cys547Ser Single submitter ⚠
p.Cys55Trp Single submitter ⚠
p.Gln692Arg Single submitter ⚠
p.Gln767Arg Single submitter ⚠
p.Gln767Glu Single submitter ⚠
p.Gln767His Single submitter ⚠
p.Glu179Gly Single submitter ⚠
p.Glu383Gly Single submitter ⚠
p.Glu389Lys Single submitter ⚠
p.Glu469Lys Single submitter ⚠
p.Glu51Ala Single submitter ⚠
p.Glu521Ala Single submitter ⚠
p.Glu760Gly Single submitter ⚠
p.Glu87Ala Single submitter ⚠
p.Gly245Asp Single submitter ⚠
p.Gly472Val Single submitter ⚠
p.Gly513Asp Single submitter ⚠
p.Gly618Glu Single submitter ⚠
p.Gly96Arg Single submitter ⚠
p.His327Pro Single submitter ⚠
p.His350Arg Single submitter ⚠
p.His412Arg Single submitter ⚠
p.His492Tyr Single submitter ⚠
p.Ile128Thr Single submitter ⚠
p.Ile151Leu Single submitter ⚠
p.Ile578Leu Single submitter ⚠
p.Ile755Phe Single submitter ⚠
p.Leu263Val Single submitter ⚠
p.Leu662Val Single submitter ⚠
p.Leu686Val Single submitter ⚠
p.Leu736Pro Single submitter ⚠
p.Leu751Ser Single submitter ⚠
p.Lys32Asn Single submitter ⚠
p.Lys369Asn Single submitter ⚠
p.Lys536Arg Single submitter ⚠
p.Lys748Asn Single submitter ⚠
p.Met279Val Single submitter ⚠
p.Met593Ile Single submitter ⚠
p.Met727Val Single submitter ⚠
p.Phe277Leu Single submitter ⚠
p.Phe301Leu Single submitter ⚠
p.Phe337Leu Single submitter ⚠
p.Pro15Ser Single submitter ⚠
p.Pro20Ser Single submitter ⚠
p.Pro353Ala Single submitter ⚠
p.Pro503Arg Single submitter ⚠
p.Pro574Ser Single submitter ⚠
p.Pro718Leu Single submitter ⚠
p.Pro8Ser Single submitter ⚠
p.Ser225Arg Single submitter ⚠
p.Ser2Arg Single submitter ⚠
p.Ser306Arg Single submitter ⚠
p.Ser331Pro Single submitter ⚠
p.Ser355Pro Single submitter ⚠
p.Ser479Asn Single submitter ⚠
p.Ser575Asn Single submitter ⚠
p.Ser586Thr Single submitter ⚠
p.Thr278Ser Single submitter ⚠
p.Thr621Ala Single submitter ⚠
p.Thr639Ile Single submitter ⚠
p.Trp200Arg Single submitter ⚠
p.Tyr314Ser Single submitter ⚠
p.Val106Gly Single submitter ⚠
p.Val351Glu Single submitter ⚠
p.Val599Phe Single submitter ⚠
p.Val721Ile Single submitter ⚠
p.Val729Leu Single submitter ⚠