MMP11 — 95 ClinVar variants

All ClinVar germline MMP11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

2 Benign · 4 Likely benign · 89 Uncertain significance

Full MMP11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 65

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 MMP11 variants

Benign 2

p.Thr378= Multiple submitters
p.Gly252= Single submitter

Likely benign 4

p.Ala38Thr Single submitter
p.Ala53Glu Single submitter
p.Asp167Asn Single submitter
p.Val253Ile Single submitter

Uncertain significance 89

p.Ala10Gly Single submitter ⚠
p.Ala10Pro Single submitter ⚠
p.Ala270Val Single submitter ⚠
p.Ala289Thr Single submitter ⚠
p.Ala2Asp Single submitter ⚠
p.Ala330Thr Single submitter ⚠
p.Ala345Thr Single submitter ⚠
p.Ala375Thr Single submitter ⚠
p.Ala389Val Single submitter
p.Ala38Ser Single submitter ⚠
p.Ala438Asp Single submitter ⚠
p.Ala438Thr Single submitter ⚠
p.Ala5Thr Single submitter ⚠
p.Ala91Val Single submitter ⚠
p.Arg116Gln Single submitter ⚠
p.Arg127Trp Single submitter ⚠
p.Arg13Cys Single submitter ⚠
p.Arg240Cys Single submitter ⚠
p.Arg305Gln Single submitter ⚠
p.Arg305Pro Single submitter ⚠
p.Arg320Cys Single submitter ⚠
p.Arg406Lys Single submitter ⚠
p.Arg416Gln Single submitter ⚠
p.Arg417His Single submitter ⚠
p.Arg417Pro Single submitter ⚠
p.Arg417Ser Single submitter ⚠
p.Arg424Cys Single submitter ⚠
p.Arg424His Single submitter ⚠
p.Arg425Gly Single submitter ⚠
p.Arg451Cys Single submitter ⚠
p.Arg451His Single submitter ⚠
p.Arg453Cys Single submitter ⚠
p.Arg453His Single submitter ⚠
p.Arg471His Single submitter ⚠
p.Arg70Trp Single submitter ⚠
p.Arg79His Single submitter ⚠
p.Asn280Ser Single submitter ⚠
p.Asp437Asn Single submitter ⚠
p.Asp442His Single submitter ⚠
p.Asp84Asn Single submitter ⚠
p.Asp87Gly Single submitter ⚠
p.Gln274Arg Single submitter ⚠
p.Gln274Leu Single submitter ⚠
p.Gln358His Single submitter ⚠
p.Glu295Gly Single submitter ⚠
p.Glu396Lys Single submitter ⚠
p.Glu482Lys Single submitter ⚠
p.Gly175Asp Single submitter
p.Gly202Val Single submitter
p.Gly314Cys Single submitter ⚠
p.Gly452Ser Single submitter ⚠
p.His149Pro Single submitter ⚠
p.Ile201Val Single submitter ⚠
p.Ile277Met Single submitter ⚠
p.Leu243Pro Single submitter ⚠
p.Leu29Pro Single submitter ⚠
p.Leu30Gln Single submitter ⚠
p.Leu89Gln Single submitter ⚠
p.Lys230Asn Single submitter ⚠
p.Lys369Glu Single submitter ⚠
p.Met19Ile Single submitter ⚠
p.Phe159fs Single submitter
p.Phe170Cys Single submitter ⚠
p.Phe449Val Single submitter ⚠
p.Pro17Ser Single submitter ⚠
p.Pro284Leu Single submitter ⚠
p.Pro290Leu Single submitter ⚠
p.Pro376Ser Single submitter ⚠
p.Pro421Thr Single submitter ⚠
p.Pro433Leu Single submitter ⚠
p.Pro50Ser Single submitter ⚠
p.Pro63Ser Single submitter ⚠
p.Ser246Asn Single submitter ⚠
p.Thr108Arg Single submitter ⚠
p.Thr108Met Single submitter ⚠
p.Thr141Lys Single submitter ⚠
p.Thr486Pro Single submitter ⚠
p.Thr65Met Single submitter ⚠
p.Trp363Cys Single submitter ⚠
p.Trp51Arg Single submitter ⚠
p.Tyr195Cys Single submitter ⚠
p.Tyr237His Single submitter
p.Val220Met Single submitter ⚠
p.Val253Phe Single submitter
p.Val264Ile Single submitter ⚠
p.Val392Phe Single submitter ⚠
p.Val422Met Single submitter ⚠
p.Val432Met Single submitter ⚠
p.Val99Met Single submitter ⚠