MMP13 — 297 ClinVar variants
All ClinVar germline MMP13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →
9 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 19 Conflicting · 29 Benign · 10 Benign/Likely benign · 73 Likely benign · 147 Uncertain significance
Full MMP13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 135
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 agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MMP13 p.Asp257Val
Conflicting
Single submitter
metaphyseal anadysplasia
-
MMP13 p.Asp317Glu
Conflicting
Single submitter
metaphyseal anadysplasia
-
MMP13 p.His312Arg
Conflicting
Single submitter
metaphyseal anadysplasia
-
MMP13 p.Thr323Met
Conflicting
Single submitter
metaphyseal anadysplasia
- MMP13 p.Val148Glu Conflicting Single submitter
-
MMP13 p.Val462Ile
Conflicting
Single submitter
metaphyseal chondrodysplasia, Spahr type
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MMP13 p.Ala356Val Uncertain significance Multiple submitters
- MMP13 p.Arg310Cys Uncertain significance Multiple submitters
- MMP13 p.Arg310His Uncertain significance Multiple submitters
- MMP13 p.Arg333His Uncertain significance Multiple submitters
- MMP13 p.Arg458His Uncertain significance Multiple submitters
- MMP13 p.Asp406Glu Uncertain significance Multiple submitters
-
MMP13 p.Gly237Glu
Uncertain significance
Multiple submitters
metaphyseal anadysplasia
- MMP13 p.His157Tyr Uncertain significance Multiple submitters
- MMP13 p.Leu396Pro Uncertain significance Multiple submitters
- MMP13 p.Met64Leu Uncertain significance Multiple submitters
- MMP13 p.Pro268Ser Uncertain significance Multiple submitters
- MMP13 p.Pro417Ser Uncertain significance Multiple submitters
- MMP13 p.Ser295Asn Uncertain significance Multiple submitters
- MMP13 p.Ala238Thr Uncertain significance Single submitter
- MMP13 p.Ala337Val Uncertain significance Single submitter
- MMP13 p.Asn194Asp Uncertain significance Single submitter
- MMP13 p.Asn332Ser Uncertain significance Single submitter
- MMP13 p.Asn400Lys Uncertain significance Single submitter
- MMP13 p.Asp198Val Uncertain significance Single submitter
- MMP13 p.Asp202Asn Uncertain significance Single submitter
- MMP13 p.Asp204His Uncertain significance Single submitter
- MMP13 p.Asp317Asn Uncertain significance Single submitter
- MMP13 p.Asp335Glu Uncertain significance Single submitter
- MMP13 p.Asp413Tyr Uncertain significance Single submitter
- MMP13 p.Gln263Arg Uncertain significance Single submitter
- MMP13 p.Glu135Lys Uncertain significance Single submitter
- MMP13 p.Gly192Trp Uncertain significance Single submitter
- MMP13 p.Gly192Val Uncertain significance Single submitter
- MMP13 p.Gly229Ala Uncertain significance Single submitter
-
MMP13 p.Gly229Val
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Gly298Arg Uncertain significance Single submitter
-
MMP13 p.Gly298Glu
Uncertain significance
Single submitter
metaphyseal chondrodysplasia, Spahr type
- MMP13 p.Gly359Val Uncertain significance Single submitter
- MMP13 p.Gly374Val Uncertain significance Single submitter
- MMP13 p.Gly446Arg Uncertain significance Single submitter
- MMP13 p.His172Arg Uncertain significance Single submitter
- MMP13 p.His200Tyr Uncertain significance Single submitter
- MMP13 p.His226Gln Uncertain significance Single submitter
- MMP13 p.His226Tyr Uncertain significance Single submitter
- MMP13 p.His251Gln Uncertain significance Single submitter
- MMP13 p.Ile163Phe Uncertain significance Single submitter
- MMP13 p.Ile346Thr Uncertain significance Single submitter
- MMP13 p.Leu230Pro Uncertain significance Single submitter
- MMP13 p.Leu254Pro Uncertain significance Single submitter
-
MMP13 p.Leu375Phe
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Lys139Glu Uncertain significance Single submitter
- MMP13 p.Lys249Thr Uncertain significance Single submitter
- MMP13 p.Lys324Thr Uncertain significance Single submitter
- MMP13 p.Lys82Gln Uncertain significance Single submitter
-
MMP13 p.Met164Ile
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Met240Thr Uncertain significance Single submitter
- MMP13 p.Met301Ile Uncertain significance Single submitter
- MMP13 p.Met463Thr Uncertain significance Single submitter
- MMP13 p.Phe167Ser Uncertain significance Single submitter
- MMP13 p.Phe201Leu Uncertain significance Single submitter
- MMP13 p.Phe397Tyr Uncertain significance Single submitter
- MMP13 p.Phe444Leu Uncertain significance Single submitter
-
MMP13 p.Pro236Ser
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Pro268Gln Uncertain significance Single submitter
- MMP13 p.Pro286Ser Uncertain significance Single submitter
- MMP13 p.Pro367Leu Uncertain significance Single submitter
- MMP13 p.Pro417Leu Uncertain significance Single submitter
- MMP13 p.Ser233Thr Uncertain significance Single submitter
- MMP13 p.Ser264Thr Uncertain significance Single submitter
- MMP13 p.Ser325Leu Uncertain significance Single submitter
- MMP13 p.Ser456Asn Uncertain significance Single submitter
- MMP13 p.Thr130Ile Uncertain significance Single submitter
- MMP13 p.Thr247Ala Uncertain significance Single submitter
- MMP13 p.Trp327Ser Uncertain significance Single submitter
- MMP13 p.Trp355Leu Uncertain significance Single submitter
- MMP13 p.Tyr244Cys Uncertain significance Single submitter
- MMP13 p.Tyr405Cys Uncertain significance Single submitter
- MMP13 p.Tyr442Cys Uncertain significance Single submitter
- MMP13 p.Tyr442Ser Uncertain significance Single submitter
- MMP13 p.Val134Gly Uncertain significance Single submitter
- MMP13 p.Val219Ala Uncertain significance Single submitter
- MMP13 p.Val431Ala Uncertain significance Single submitter
- MMP13 p.Val431Glu Uncertain significance Single submitter
- MMP13 p.Val434Ala Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
- MMP13 p.Ala221Val Uncertain significance Multiple submitters
- MMP13 p.Ala318Val Uncertain significance Multiple submitters
-
MMP13 p.Arg333Cys
Uncertain significance
Multiple submitters
metaphyseal anadysplasia
-
MMP13 p.Asp158Asn
Benign/Likely benign
Multiple submitters
metaphyseal anadysplasia
-
MMP13 p.Asp390Gly
Benign/Likely benign
Multiple submitters
metaphyseal anadysplasia
- MMP13 p.Glu135Gln Uncertain significance Multiple submitters
- MMP13 p.Gly374Asp Uncertain significance Multiple submitters
-
MMP13 p.Leu218Val
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Leu373Met Uncertain significance Multiple submitters
- MMP13 p.Lys143Glu Uncertain significance Multiple submitters
- MMP13 p.Phe354Leu Uncertain significance Multiple submitters
-
MMP13 p.Pro273Arg
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Pro286Thr Uncertain significance Multiple submitters
- MMP13 p.Thr280Met Uncertain significance Multiple submitters
- MMP13 p.Ala199Val Uncertain significance Single submitter
- MMP13 p.Ala385Thr Uncertain significance Single submitter
- MMP13 p.Arg155Ile Uncertain significance Single submitter
- MMP13 p.Arg155Lys Uncertain significance Single submitter
- MMP13 p.Arg350Ser Uncertain significance Single submitter
-
MMP13 p.Arg458Cys
Conflicting
Single submitter
metaphyseal anadysplasia
- MMP13 p.Arg458Ser Uncertain significance Single submitter
- MMP13 p.Arg461Gly Uncertain significance Single submitter
- MMP13 p.Arg461His Uncertain significance Single submitter
- MMP13 p.Asn215Asp Uncertain significance Single submitter
- MMP13 p.Asp147Asn Uncertain significance Single submitter
-
MMP13 p.Asp361Gly
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Asp407Val Uncertain significance Single submitter
- MMP13 p.Asp432Glu Uncertain significance Single submitter
- MMP13 p.Glu171Gly Uncertain significance Single submitter
- MMP13 p.Glu364Gly Uncertain significance Single submitter
- MMP13 p.Gly213Ser Uncertain significance Single submitter
- MMP13 p.Gly248Ser Uncertain significance Single submitter
- MMP13 p.His251Tyr Uncertain significance Single submitter
- MMP13 p.His387Tyr Uncertain significance Single submitter
- MMP13 p.Ile334Val Uncertain significance Single submitter
- MMP13 p.Leu357Phe Uncertain significance Single submitter
- MMP13 p.Leu357Val Uncertain significance Single submitter
-
MMP13 p.Lys170Thr
Conflicting
Single submitter
metaphyseal anadysplasia
- MMP13 p.Lys304Arg Uncertain significance Single submitter
- MMP13 p.Phe388Ser Uncertain significance Single submitter
-
MMP13 p.Phe75Ser
Pathogenic
Single submitter
spondyloepimetaphyseal dysplasia, Missouri type
- MMP13 p.Pro150Ala Uncertain significance Single submitter
- MMP13 p.Pro181Ser Uncertain significance Single submitter
- MMP13 p.Pro275His Uncertain significance Single submitter
- MMP13 p.Pro275Ser Uncertain significance Single submitter
- MMP13 p.Pro425Ala Uncertain significance Single submitter
- MMP13 p.Thr154Ala Uncertain significance Single submitter
- MMP13 p.Thr394Ile Uncertain significance Single submitter
- MMP13 p.Val379Leu Uncertain significance Single submitter
- MMP13 p.Val386Phe Uncertain significance Single submitter
All MMP13 variants
Pathogenic 9
- p.Gln260fs Single submitter
- p.Gly180Ala Single submitter
- p.Ile370fs Single submitter
- p.Lys393fs Single submitter
- p.Phe75Ser Single submitter spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Ser182fs Single submitter
- p.Ser325Ter Single submitter
- p.Tyr360Ter Single submitter
- p.His232Asn No assertion criteria metaphyseal chondrodysplasia, Spahr type
Pathogenic/Likely pathogenic 3
- c.1052-1G>C Multiple submitters
- p.Asp258fs Multiple submitters MMP13-related disorder
- p.Trp207Gly Multiple submitters metaphyseal chondrodysplasia, Spahr type
Likely pathogenic 7
- c.1052-2A>C Single submitter
- c.1212-1G>T Single submitter
- c.511+2T>A Single submitter
- c.512-1G>C Single submitter
- c.800-1G>A Single submitter
- c.800-1G>T Single submitter
- p.Trp403Ter Single submitter
Conflicting classifications of pathogenicity 19
- c.1315+12C>T Single submitter metaphyseal anadysplasia
- c.1315+15T>C Single submitter metaphyseal anadysplasia
- c.*1219A>C Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*13A>T Single submitter metaphyseal anadysplasia
- c.*156A>G Single submitter metaphyseal anadysplasia
- c.*160G>A Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- p.Ala221= Single submitter
- p.Arg458Cys Single submitter metaphyseal anadysplasia ⚠
- p.Asp257Val Single submitter metaphyseal anadysplasia ⚠
- p.Asp317Glu Single submitter metaphyseal anadysplasia ⚠
- p.His312Arg Single submitter metaphyseal anadysplasia ⚠
- p.Lys170Thr Single submitter metaphyseal anadysplasia ⚠
- p.Phe252= Single submitter metaphyseal anadysplasia
- p.Pro367= Single submitter metaphyseal anadysplasia
- p.Pro417= Single submitter
- p.Ser146= Single submitter metaphyseal anadysplasia
- p.Thr323Met Single submitter metaphyseal anadysplasia ⚠
- p.Val148Glu Single submitter ⚠
- p.Val462Ile Single submitter metaphyseal chondrodysplasia, Spahr type ⚠
Benign 29
- c.1051+180A>G Multiple submitters
- c.1315+19C>T Multiple submitters
- c.1315+32G>C Multiple submitters
- c.512-81A>C Multiple submitters
- c.637+59A>G Multiple submitters
- c.799+8G>A Multiple submitters spondyloepimetaphyseal dysplasia, Missouri type
- c.799+92A>G Multiple submitters
- c.800-9C>T Multiple submitters spondyloepimetaphyseal dysplasia, Missouri type
- c.918-29C>T Multiple submitters
- c.918-81G>C Multiple submitters
- c.*885A>G Multiple submitters spondyloepimetaphyseal dysplasia, Missouri type
- c.1051+299T>C Single submitter
- c.1052-233C>T Single submitter
- c.1052-237T>C Single submitter
- c.1211+186CA[17] Single submitter
- c.1211+186CA[20] Single submitter
- c.1211+186CA[21] Single submitter
- c.1211+186CA[22] Single submitter
- c.1211+186CA[23] Single submitter
- c.1212-12_1212-11del Single submitter
- c.1212-14T>A Single submitter
- c.1212-185G>A Single submitter
- c.1212-254T>C Single submitter
- c.1316-14G>A Single submitter
- c.1316-9_1316-8dup Single submitter
- c.363-300A>G Single submitter
- c.917+184G>A Single submitter
- c.917+329G>A Single submitter
- c.*997dup Single submitter
Benign/Likely benign 10
- c.363-17C>G Multiple submitters
- c.799+7C>T Multiple submitters metaphyseal anadysplasia
- c.*314T>C Multiple submitters spondyloepimetaphyseal dysplasia, Missouri type
- p.Asn445= Multiple submitters
- p.Asp158Asn Multiple submitters metaphyseal anadysplasia ⚠
- p.Asp390Gly Multiple submitters metaphyseal anadysplasia ⚠
- p.Thr247= Multiple submitters metaphyseal anadysplasia
- p.Tyr360= Multiple submitters metaphyseal chondrodysplasia, Spahr type
- c.*426A>G Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*628A>G Single submitter spondyloepimetaphyseal dysplasia, Missouri type
Likely benign 73
- c.363-82G>A Multiple submitters
- c.917+19C>G Multiple submitters
- c.917+34C>T Multiple submitters
- c.1051+13C>T Single submitter
- c.1051+15G>A Single submitter
- c.1051+16A>G Single submitter
- c.1051+242T>C Single submitter
- c.1052-178dup Single submitter
- c.1052-4C>A Single submitter
- c.1052-8C>G Single submitter
- c.1211+186CA[13] Single submitter
- c.1211+19C>T Single submitter
- c.1211+299_1211+300insACTT Single submitter
- c.1212-20A>G Single submitter
- c.1315+414T>A Single submitter
- c.1315+501C>T Single submitter
- c.1316-11T>C Single submitter
- c.1316-160A>G Single submitter
- c.1316-163A>G Single submitter
- c.1316-19T>A Single submitter
- c.1316-7C>A Single submitter
- c.363-186C>T Single submitter
- c.511+13A>T Single submitter
- c.511+14T>C Single submitter
- c.511+14T>G Single submitter
- c.511+23C>G Single submitter
- c.512-4G>A Single submitter
- c.637+12T>C Single submitter
- c.637+18G>T Single submitter
- c.638-16_638-15del Single submitter
- c.799+12A>G Single submitter
- c.799+145T>C Single submitter
- c.799+14A>C Single submitter
- c.799+15G>A Single submitter
- c.799+260A>T Single submitter
- c.800-13T>C Single submitter
- c.800-8G>C Single submitter
- c.917+19C>A Single submitter
- c.918-7G>A Single submitter
- p.Ala318= Single submitter
- p.Ala337= Single submitter
- p.Arg121= Single submitter
- p.Arg310= Single submitter
- p.Arg461= Single submitter
- p.Asn332= Single submitter
- p.Asp203= Single submitter
- p.Asp257= Single submitter
- p.Asp258= Single submitter
- p.Asp282= Single submitter
- p.Gln449= Single submitter
- p.Gly173= Single submitter
- p.Gly192= Single submitter
- p.His157= Single submitter
- p.His226= Single submitter
- p.Leu265= Single submitter
- p.Leu320= Single submitter
- p.Leu396= Single submitter
- p.Phe224= Single submitter
- p.Phe424= Single submitter
- p.Pro127= Single submitter
- p.Pro190= Single submitter
- p.Pro191= Single submitter
- p.Pro275= Single submitter
- p.Ser132= Single submitter
- p.Ser289= Single submitter
- p.Thr149= Single submitter
- p.Thr280= Single submitter
- p.Thr391= Single submitter
- p.Tyr176= Single submitter
- p.Tyr244= Single submitter
- p.Tyr366= Single submitter
- p.Val134= Single submitter
- p.Val402= Single submitter
Uncertain significance 147
- p.Ala221Val Multiple submitters ⚠
- p.Ala318Val Multiple submitters ⚠
- p.Ala356Val Multiple submitters ⚠
- p.Arg310Cys Multiple submitters ⚠
- p.Arg310His Multiple submitters ⚠
- p.Arg333Cys Multiple submitters metaphyseal anadysplasia ⚠
- p.Arg333His Multiple submitters ⚠
- p.Arg458His Multiple submitters ⚠
- p.Asp406Glu Multiple submitters ⚠
- p.Glu135Gln Multiple submitters ⚠
- p.Gly237Glu Multiple submitters metaphyseal anadysplasia ⚠
- p.Gly374Asp Multiple submitters ⚠
- p.His157Tyr Multiple submitters ⚠
- p.Leu218Val Multiple submitters spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Leu373Met Multiple submitters ⚠
- p.Leu396Pro Multiple submitters ⚠
- p.Lys143Glu Multiple submitters ⚠
- p.Met64Leu Multiple submitters ⚠
- p.Phe354Leu Multiple submitters ⚠
- p.Pro268Ser Multiple submitters ⚠
- p.Pro273Arg Multiple submitters spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Pro286Thr Multiple submitters ⚠
- p.Pro417Ser Multiple submitters ⚠
- p.Ser295Asn Multiple submitters ⚠
- p.Thr280Met Multiple submitters ⚠
- c.1051+3A>C Single submitter
- c.1316-15T>C Single submitter metaphyseal anadysplasia
- c.363-14T>A Single submitter
- c.917+2T>A Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.917+5T>C Single submitter
- c.*1007T>C Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*1052T>C Single submitter metaphyseal anadysplasia
- c.*1102T>C Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*1171C>A Single submitter metaphyseal anadysplasia
- c.*264C>T Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*275T>C Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*436G>C Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*54T>C Single submitter metaphyseal anadysplasia
- c.*723A>T Single submitter metaphyseal anadysplasia
- c.*756A>G Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*771T>G Single submitter spondyloepimetaphyseal dysplasia, Missouri type
- c.*852C>T Single submitter metaphyseal anadysplasia
- c.*954G>C Single submitter metaphyseal anadysplasia
- p.Ala199Val Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala337Val Single submitter ⚠
- p.Ala385Thr Single submitter ⚠
- p.Arg155Ile Single submitter ⚠
- p.Arg155Lys Single submitter ⚠
- p.Arg350Ser Single submitter ⚠
- p.Arg458fs Single submitter
- p.Arg458Ser Single submitter ⚠
- p.Arg461Gly Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Asn194Asp Single submitter ⚠
- p.Asn215Asp Single submitter ⚠
- p.Asn332Ser Single submitter ⚠
- p.Asn400Lys Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp198Val Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp204His Single submitter ⚠
- p.Asp317Asn Single submitter ⚠
- p.Asp335Glu Single submitter ⚠
- p.Asp361Gly Single submitter spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Asp407Val Single submitter ⚠
- p.Asp413Tyr Single submitter ⚠
- p.Asp432Glu Single submitter ⚠
- p.Gln263Arg Single submitter ⚠
- p.Glu135Lys Single submitter ⚠
- p.Glu171Gly Single submitter ⚠
- p.Glu364Gly Single submitter ⚠
- p.Gly192Trp Single submitter ⚠
- p.Gly192Val Single submitter ⚠
- p.Gly213Ser Single submitter ⚠
- p.Gly229Ala Single submitter ⚠
- p.Gly229Val Single submitter spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Gly237del Single submitter
- p.Gly248Ser Single submitter ⚠
- p.Gly298Arg Single submitter ⚠
- p.Gly298Glu Single submitter metaphyseal chondrodysplasia, Spahr type ⚠
- p.Gly359Val Single submitter ⚠
- p.Gly374Val Single submitter ⚠
- p.Gly446Arg Single submitter ⚠
- p.His172Arg Single submitter ⚠
- p.His200Tyr Single submitter ⚠
- p.His226Gln Single submitter ⚠
- p.His226Tyr Single submitter ⚠
- p.His251Gln Single submitter ⚠
- p.His251Tyr Single submitter ⚠
- p.His387Tyr Single submitter ⚠
- p.Ile163Phe Single submitter ⚠
- p.Ile334Val Single submitter ⚠
- p.Ile346Thr Single submitter ⚠
- p.Leu230Pro Single submitter ⚠
- p.Leu254Pro Single submitter ⚠
- p.Leu357Phe Single submitter ⚠
- p.Leu357Val Single submitter ⚠
- p.Leu375Phe Single submitter spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Lys139Glu Single submitter ⚠
- p.Lys249Thr Single submitter ⚠
- p.Lys304Arg Single submitter ⚠
- p.Lys324Thr Single submitter ⚠
- p.Lys82Gln Single submitter ⚠
- p.Met164Ile Single submitter spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Met240Thr Single submitter ⚠
- p.Met301Ile Single submitter ⚠
- p.Met463Thr Single submitter ⚠
- p.Phe167Ser Single submitter ⚠
- p.Phe201Leu Single submitter ⚠
- p.Phe388Ser Single submitter ⚠
- p.Phe397Tyr Single submitter ⚠
- p.Phe444Leu Single submitter ⚠
- p.Pro150Ala Single submitter ⚠
- p.Pro181Ser Single submitter ⚠
- p.Pro236Ser Single submitter spondyloepimetaphyseal dysplasia, Missouri type ⚠
- p.Pro242fs Single submitter
- p.Pro268Gln Single submitter ⚠
- p.Pro275His Single submitter ⚠
- p.Pro275Ser Single submitter ⚠
- p.Pro286Ser Single submitter ⚠
- p.Pro367Leu Single submitter ⚠
- p.Pro417Leu Single submitter ⚠
- p.Pro425Ala Single submitter ⚠
- p.Ser233Thr Single submitter ⚠
- p.Ser264Thr Single submitter ⚠
- p.Ser325Leu Single submitter ⚠
- p.Ser456Asn Single submitter ⚠
- p.Ter472CysextTer? Single submitter metaphyseal chondrodysplasia, Spahr type
- p.Thr130Ile Single submitter ⚠
- p.Thr154Ala Single submitter ⚠
- p.Thr247Ala Single submitter ⚠
- p.Thr394Ile Single submitter ⚠
- p.Trp327Ser Single submitter ⚠
- p.Trp355Leu Single submitter ⚠
- p.Tyr244Cys Single submitter ⚠
- p.Tyr266= Single submitter
- p.Tyr405Cys Single submitter ⚠
- p.Tyr442Cys Single submitter ⚠
- p.Tyr442Ser Single submitter ⚠
- p.Val134Gly Single submitter ⚠
- p.Val219Ala Single submitter ⚠
- p.Val379Leu Single submitter ⚠
- p.Val386Phe Single submitter ⚠
- p.Val431Ala Single submitter ⚠
- p.Val431Glu Single submitter ⚠
- p.Val434Ala Single submitter ⚠