MMS19 — 153 ClinVar variants

All ClinVar germline MMS19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

1 Benign · 7 Likely benign · 145 Uncertain significance

Full MMS19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 124

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

Predictors split 18

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

All MMS19 variants

Benign 1

p.Gln409Pro Multiple submitters

Likely benign 7

p.Ala656= Multiple submitters
p.Arg160Gln Single submitter
p.Arg465His Single submitter
p.Arg534Cys Single submitter
p.Cys502= Single submitter
p.Ile624Val Single submitter
p.Val7Leu Single submitter

Uncertain significance 145

p.Ala11Val Single submitter ⚠
p.Ala121Ser Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala324Val Single submitter ⚠
p.Ala383Val Single submitter ⚠
p.Ala3Val Single submitter ⚠
p.Ala4Thr Single submitter ⚠
p.Ala506Thr Single submitter ⚠
p.Ala720Asp Single submitter ⚠
p.Ala756Asp Single submitter ⚠
p.Ala756Thr Single submitter ⚠
p.Ala969Thr Single submitter ⚠
p.Ala973Thr Single submitter ⚠
p.Ala9Val Single submitter ⚠
p.Arg162Trp Single submitter ⚠
p.Arg188Cys Single submitter ⚠
p.Arg188His Single submitter ⚠
p.Arg195Cys Single submitter ⚠
p.Arg246Cys Single submitter
p.Arg316Gln Single submitter ⚠
p.Arg334Cys Single submitter ⚠
p.Arg384Gln Single submitter ⚠
p.Arg410Gln Single submitter ⚠
p.Arg534Gly Single submitter ⚠
p.Arg551Gln Single submitter ⚠
p.Arg63Gln Single submitter ⚠
p.Arg65Gln Single submitter
p.Arg713Gln Single submitter ⚠
p.Arg795Cys Single submitter ⚠
p.Arg795His Single submitter ⚠
p.Arg823Trp Single submitter ⚠
p.Arg854Gly Single submitter ⚠
p.Arg854His Single submitter ⚠
p.Arg861Gln Single submitter ⚠
p.Arg865Cys Single submitter ⚠
p.Arg865His Single submitter ⚠
p.Arg867Gln Single submitter ⚠
p.Arg971Gln Single submitter ⚠
p.Arg983Cys Single submitter ⚠
p.Arg998Gly Single submitter ⚠
p.Asn231His Single submitter ⚠
p.Asn392Ser Single submitter ⚠
p.Asn688Ser Single submitter ⚠
p.Asp1006Ala Single submitter ⚠
p.Asp225Val Single submitter ⚠
p.Asp355Glu Single submitter ⚠
p.Gln376Glu Single submitter ⚠
p.Gln458His Single submitter ⚠
p.Gln473Arg Single submitter ⚠
p.Gln557His Single submitter ⚠
p.Gln604Lys Single submitter ⚠
p.Gln621Glu Single submitter ⚠
p.Glu342Asp Single submitter ⚠
p.Glu545Lys Single submitter ⚠
p.Glu638Gly Single submitter ⚠
p.Glu859Asp Single submitter ⚠
p.Gly125Arg Single submitter
p.Gly125Glu Single submitter ⚠
p.Gly235Asp Single submitter ⚠
p.Gly471Asp Single submitter ⚠
p.Gly471Ser Single submitter ⚠
p.Gly856Ser Single submitter ⚠
p.Gly894Ser Single submitter ⚠
p.His103Arg Single submitter ⚠
p.His234Arg Single submitter ⚠
p.His579Asp Single submitter ⚠
p.His80Asp Single submitter ⚠
p.His80Gln Single submitter ⚠
p.His80Tyr Single submitter ⚠
p.His857Pro Single submitter ⚠
p.His857Tyr Single submitter ⚠
p.His881Arg Single submitter ⚠
p.Ile106Thr Single submitter ⚠
p.Ile305Met Single submitter ⚠
p.Ile305Val Single submitter ⚠
p.Ile568Val Single submitter ⚠
p.Leu126Arg Single submitter ⚠
p.Leu131His Single submitter ⚠
p.Leu332Phe Single submitter ⚠
p.Leu360Val Single submitter ⚠
p.Leu461Phe Single submitter ⚠
p.Leu53Ile Single submitter ⚠
p.Leu718Pro Single submitter ⚠
p.Leu71Phe Single submitter ⚠
p.Leu741Phe Single submitter ⚠
p.Leu827Phe Single submitter ⚠
p.Leu876Ser Single submitter ⚠
p.Leu962Ile Single submitter ⚠
p.Leu981Val Single submitter ⚠
p.Lys1002Glu Single submitter ⚠
p.Lys441Arg Single submitter ⚠
p.Lys888Thr Single submitter ⚠
p.Met181Thr Single submitter ⚠
p.Met719Val Single submitter ⚠
p.Met825Thr Single submitter ⚠
p.Met863Ile Single submitter ⚠
p.Phe420Leu Single submitter ⚠
p.Phe701Tyr Single submitter ⚠
p.Phe880Ile Single submitter ⚠
p.Phe959Leu Single submitter ⚠
p.Pro1003Leu Single submitter ⚠
p.Pro1028Leu Single submitter ⚠
p.Pro123Ala Single submitter ⚠
p.Pro124Gln Single submitter ⚠
p.Pro12Leu Single submitter ⚠
p.Pro209Leu Single submitter ⚠
p.Pro230His Single submitter ⚠
p.Pro233His Single submitter ⚠
p.Pro253Ser Single submitter ⚠
p.Pro395Leu Single submitter ⚠
p.Pro546Leu Single submitter ⚠
p.Pro546Ser Single submitter ⚠
p.Pro566Leu Single submitter ⚠
p.Pro566Thr Single submitter ⚠
p.Pro637Ser Single submitter ⚠
p.Pro682Ser Single submitter ⚠
p.Pro703Leu Single submitter ⚠
p.Pro815Thr Single submitter ⚠
p.Pro835Ser Single submitter ⚠
p.Pro925Ala Single submitter ⚠
p.Pro985Ser Single submitter ⚠
p.Pro994Ser Single submitter ⚠
p.Ser335Pro Single submitter ⚠
p.Ser371Arg Single submitter ⚠
p.Ser407Thr Single submitter ⚠
p.Ser699Asn Single submitter ⚠
p.Ser73Leu Single submitter ⚠
p.Ser916Cys Single submitter ⚠
p.Ser916Pro Single submitter ⚠
p.Thr312Met Single submitter ⚠
p.Thr390Ile Single submitter ⚠
p.Thr45Ala Single submitter ⚠
p.Thr806Ala Single submitter ⚠
p.Thr913Met Single submitter ⚠
p.Tyr429Cys Single submitter ⚠
p.Tyr618Cys Single submitter ⚠
p.Tyr95Cys Single submitter ⚠
p.Val109Ile Single submitter ⚠
p.Val146Met Single submitter ⚠
p.Val336Gly Single submitter ⚠
p.Val535Ala Single submitter ⚠
p.Val569Ile Single submitter ⚠
p.Val689Met Single submitter ⚠
p.Val785Met Single submitter ⚠
p.Val928Met Single submitter ⚠