MMP12 — 33 ClinVar variants
All ClinVar germline MMP12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
4 Likely benign · 29 Uncertain significance
Full MMP12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MMP12 p.Ala133Ser Uncertain significance Single submitter
- MMP12 p.Ala13Thr Uncertain significance Single submitter
- MMP12 p.Arg135Leu Uncertain significance Single submitter
- MMP12 p.Arg135Trp Uncertain significance Single submitter
- MMP12 p.Asn28Ser Uncertain significance Single submitter
- MMP12 p.Asn342Asp Uncertain significance Single submitter
- MMP12 p.Asp411Glu Uncertain significance Single submitter
- MMP12 p.Glu38Gly Uncertain significance Single submitter
- MMP12 p.Glu44Gln Uncertain significance Single submitter
- MMP12 p.His88Tyr Uncertain significance Single submitter
- MMP12 p.Ile134Met Uncertain significance Single submitter
- MMP12 p.Leu17Phe Uncertain significance Single submitter
- MMP12 p.Lys52Asn Uncertain significance Single submitter
- MMP12 p.Met60Ile Uncertain significance Single submitter
- MMP12 p.Pro18Ala Uncertain significance Single submitter
- MMP12 p.Pro18Leu Uncertain significance Single submitter
- MMP12 p.Pro412Ala Uncertain significance Single submitter
- MMP12 p.Ser150Asn Uncertain significance Single submitter
- MMP12 p.Val108Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All MMP12 variants
Likely benign 4
- p.Ala89Thr Single submitter
- p.Gly105Arg Single submitter
- p.Phe299= Single submitter
- p.Ser229= Single submitter
Uncertain significance 29
- p.Ala133Glu Single submitter
- p.Ala133Ser Single submitter ⚠
- p.Ala13Thr Single submitter ⚠
- p.Arg135Leu Single submitter ⚠
- p.Arg135Trp Single submitter ⚠
- p.Arg91Gln Single submitter
- p.Asn28Ser Single submitter ⚠
- p.Asn342Asp Single submitter ⚠
- p.Asp411Glu Single submitter ⚠
- p.Glu38Gly Single submitter ⚠
- p.Glu44Gln Single submitter ⚠
- p.His88Tyr Single submitter ⚠
- p.Ile134Met Single submitter ⚠
- p.Leu17Phe Single submitter ⚠
- p.Lys463Glu Single submitter ⚠
- p.Lys52Asn Single submitter ⚠
- p.Met60Ile Single submitter ⚠
- p.Phe422Ile Single submitter
- p.Pro146Arg Single submitter ⚠
- p.Pro18Ala Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro365Ala Single submitter
- p.Pro412Ala Single submitter ⚠
- p.Ser142Asn Single submitter
- p.Ser150Asn Single submitter ⚠
- p.Tyr41Cys Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val130Ala Single submitter ⚠
- p.Val130Ile Single submitter ⚠