CLMN — 195 ClinVar variants
All ClinVar germline CLMN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →
15 Benign · 29 Likely benign · 151 Uncertain significance
Full CLMN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 153
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 117
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLMN p.Ala195Val Uncertain significance Single submitter
- CLMN p.Ala220Val Uncertain significance Single submitter
- CLMN p.Ala371Val Uncertain significance Single submitter
- CLMN p.Ala453Gly Uncertain significance Single submitter
- CLMN p.Ala579Pro Uncertain significance Single submitter
- CLMN p.Ala597Ser Uncertain significance Single submitter
- CLMN p.Ala737Gly Uncertain significance Single submitter
- CLMN p.Ala814Thr Uncertain significance Single submitter
- CLMN p.Ala98Val Uncertain significance Single submitter
- CLMN p.Arg334Cys Uncertain significance Single submitter
- CLMN p.Arg334His Uncertain significance Single submitter
- CLMN p.Arg334Pro Uncertain significance Single submitter
- CLMN p.Arg517Cys Uncertain significance Single submitter
- CLMN p.Arg608Thr Uncertain significance Single submitter
- CLMN p.Arg667His Uncertain significance Single submitter
- CLMN p.Arg825Lys Uncertain significance Single submitter
- CLMN p.Arg90Cys Uncertain significance Single submitter
- CLMN p.Arg90Gly Uncertain significance Single submitter
- CLMN p.Arg90His Uncertain significance Single submitter
- CLMN p.Arg90Pro Uncertain significance Single submitter
- CLMN p.Arg932Lys Uncertain significance Single submitter
- CLMN p.Arg943Gln Uncertain significance Single submitter
- CLMN p.Asn146Lys Uncertain significance Single submitter
- CLMN p.Asn339Lys Uncertain significance Single submitter
- CLMN p.Asn418Lys Uncertain significance Single submitter
- CLMN p.Asn531His Uncertain significance Single submitter
- CLMN p.Asn79Thr Uncertain significance Single submitter
- CLMN p.Asn950Ser Uncertain significance Single submitter
- CLMN p.Asp302Val Uncertain significance Single submitter
- CLMN p.Asp460Gly Uncertain significance Single submitter
- CLMN p.Asp519Asn Uncertain significance Single submitter
- CLMN p.Asp536Asn Uncertain significance Single submitter
- CLMN p.Asp554Asn Uncertain significance Single submitter
- CLMN p.Asp592Glu Uncertain significance Single submitter
- CLMN p.Asp61Asn Uncertain significance Single submitter
- CLMN p.Asp61Glu Uncertain significance Single submitter
- CLMN p.Asp746Asn Uncertain significance Single submitter
- CLMN p.Asp749Asn Uncertain significance Single submitter
- CLMN p.Asp7Tyr Uncertain significance Single submitter
- CLMN p.Asp872His Uncertain significance Single submitter
- CLMN p.Asp897Asn Uncertain significance Single submitter
- CLMN p.Asp998Asn Uncertain significance Single submitter
- CLMN p.Cys445Phe Uncertain significance Single submitter
- CLMN p.Gln680His Uncertain significance Single submitter
- CLMN p.Gln796Lys Uncertain significance Single submitter
- CLMN p.Gln824Arg Uncertain significance Single submitter
- CLMN p.Gln974Lys Uncertain significance Single submitter
- CLMN p.Glu308Lys Uncertain significance Single submitter
- CLMN p.Glu513Ala Uncertain significance Single submitter
- CLMN p.Glu513Gly Uncertain significance Single submitter
- CLMN p.Glu599Lys Uncertain significance Single submitter
- CLMN p.Glu637Lys Uncertain significance Single submitter
- CLMN p.Glu753Gly Uncertain significance Single submitter
- CLMN p.Gly16Arg Uncertain significance Single submitter
- CLMN p.Gly391Asp Uncertain significance Single submitter
- CLMN p.Gly674Glu Uncertain significance Single submitter
- CLMN p.Gly701Ala Uncertain significance Single submitter
- CLMN p.Gly707Val Uncertain significance Single submitter
- CLMN p.His259Arg Uncertain significance Single submitter
- CLMN p.His961Arg Uncertain significance Single submitter
- CLMN p.Ile114Thr Uncertain significance Single submitter
- CLMN p.Ile119Leu Uncertain significance Single submitter
- CLMN p.Ile190Val Uncertain significance Single submitter
- CLMN p.Ile493Phe Uncertain significance Single submitter
- CLMN p.Ile847Arg Uncertain significance Single submitter
- CLMN p.Ile847Thr Uncertain significance Single submitter
- CLMN p.Ile944Val Uncertain significance Single submitter
- CLMN p.Ile981Met Uncertain significance Single submitter
- CLMN p.Ile981Phe Uncertain significance Single submitter
- CLMN p.Leu851Pro Uncertain significance Single submitter
- CLMN p.Lys751Arg Uncertain significance Single submitter
- CLMN p.Met270Ile Uncertain significance Single submitter
- CLMN p.Met534Thr Uncertain significance Single submitter
- CLMN p.Met833Ile Uncertain significance Single submitter
- CLMN p.Phe446Cys Uncertain significance Single submitter
- CLMN p.Phe566Ile Uncertain significance Single submitter
- CLMN p.Phe566Ser Uncertain significance Single submitter
- CLMN p.Phe573Val Uncertain significance Single submitter
- CLMN p.Pro170Leu Uncertain significance Single submitter
- CLMN p.Pro346Arg Uncertain significance Single submitter
- CLMN p.Pro346Gln Uncertain significance Single submitter
- CLMN p.Pro450Leu Uncertain significance Single submitter
- CLMN p.Pro51Arg Uncertain significance Single submitter
- CLMN p.Pro527Leu Uncertain significance Single submitter
- CLMN p.Pro668Leu Uncertain significance Single submitter
- CLMN p.Pro786Thr Uncertain significance Single submitter
- CLMN p.Pro809Ser Uncertain significance Single submitter
- CLMN p.Pro818Thr Uncertain significance Single submitter
- CLMN p.Ser399Arg Uncertain significance Single submitter
- CLMN p.Ser410Pro Uncertain significance Single submitter
- CLMN p.Ser478Pro Uncertain significance Single submitter
- CLMN p.Ser619Leu Uncertain significance Single submitter
- CLMN p.Ser692Gly Uncertain significance Single submitter
- CLMN p.Ser713Pro Uncertain significance Single submitter
- CLMN p.Ser792Thr Uncertain significance Single submitter
- CLMN p.Ser87Leu Uncertain significance Single submitter
- CLMN p.Ser88Leu Uncertain significance Single submitter
- CLMN p.Thr144Ala Uncertain significance Single submitter
- CLMN p.Thr144Ile Uncertain significance Single submitter
- CLMN p.Thr243Ile Uncertain significance Single submitter
- CLMN p.Thr329Ser Uncertain significance Single submitter
- CLMN p.Thr377Ala Uncertain significance Single submitter
- CLMN p.Thr432Ile Uncertain significance Single submitter
- CLMN p.Thr649Ile Uncertain significance Single submitter
- CLMN p.Thr808Ile Uncertain significance Single submitter
- CLMN p.Tyr555Cys Uncertain significance Single submitter
- CLMN p.Tyr84His Uncertain significance Single submitter
- CLMN p.Val179Met Uncertain significance Single submitter
- CLMN p.Val206Met Uncertain significance Single submitter
- CLMN p.Val327Ile Uncertain significance Single submitter
- CLMN p.Val327Phe Uncertain significance Single submitter
- CLMN p.Val33Gly Uncertain significance Single submitter
- CLMN p.Val387Ile Uncertain significance Single submitter
- CLMN p.Val496Gly Uncertain significance Single submitter
- CLMN p.Val721Ile Uncertain significance Single submitter
- CLMN p.Val885Ala Uncertain significance Single submitter
- CLMN p.Val929Ile Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- CLMN p.Glu771Ala Likely benign Multiple submitters
- CLMN p.Val489Phe Benign Multiple submitters
- CLMN p.Ala207Val Uncertain significance Single submitter
- CLMN p.Ala223Gly Uncertain significance Single submitter
- CLMN p.Ala70Ser Uncertain significance Single submitter
- CLMN p.Ala98Thr Uncertain significance Single submitter
- CLMN p.Arg244Gln Uncertain significance Single submitter
- CLMN p.Arg667Cys Uncertain significance Single submitter
- CLMN p.Arg93Gln Uncertain significance Single submitter
- CLMN p.Asn108Ser Uncertain significance Single submitter
- CLMN p.Asn43Ser Uncertain significance Single submitter
- CLMN p.Asn50Thr Uncertain significance Single submitter
- CLMN p.Asp166Asn Uncertain significance Single submitter
- CLMN p.Glu248Gly Uncertain significance Single submitter
- CLMN p.His427Gln Uncertain significance Single submitter
- CLMN p.His731Arg Uncertain significance Single submitter
- CLMN p.His819Tyr Uncertain significance Single submitter
- CLMN p.Leu700Phe Uncertain significance Single submitter
- CLMN p.Leu716Phe Uncertain significance Single submitter
- CLMN p.Lys424Glu Uncertain significance Single submitter
- CLMN p.Phe311Leu Uncertain significance Single submitter
- CLMN p.Phe566Leu Uncertain significance Single submitter
- CLMN p.Phe983Ser Uncertain significance Single submitter
- CLMN p.Pro291Leu Uncertain significance Single submitter
- CLMN p.Pro421Leu Uncertain significance Single submitter
- CLMN p.Pro52Arg Uncertain significance Single submitter
- CLMN p.Pro723Leu Uncertain significance Single submitter
- CLMN p.Ser368Cys Uncertain significance Single submitter
- CLMN p.Ser575Cys Uncertain significance Single submitter
- CLMN p.Ser777Phe Uncertain significance Single submitter
- CLMN p.Ser87Ala Uncertain significance Single submitter
- CLMN p.Thr337Asn Uncertain significance Single submitter
- CLMN p.Thr546Ile Uncertain significance Single submitter
- CLMN p.Thr699Ile Uncertain significance Single submitter
- CLMN p.Trp8Arg Uncertain significance Single submitter
- CLMN p.Tyr732Cys Uncertain significance Single submitter
All CLMN variants
Benign 15
- c.2511+10C>T Multiple submitters
- p.Asp592= Multiple submitters
- p.Glu357Lys Multiple submitters
- p.His518= Multiple submitters
- p.Ile900Phe Multiple submitters
- p.Leu111= Multiple submitters
- p.Pro963Leu Multiple submitters
- p.Ser784= Multiple submitters
- p.Val489Phe Multiple submitters ⚠
- c.2840+4G>A Single submitter
- c.886-13_886-12dup Single submitter
- p.Glu733= Single submitter
- p.Arg517His No assertion criteria CLMN-related disorder
- p.Glu5= No assertion criteria CLMN-related disorder
- p.Tyr928= No assertion criteria CLMN-related disorder
Likely benign 29
- c.886-4G>T Multiple submitters
- p.Glu276Lys Multiple submitters
- p.Glu771Ala Multiple submitters ⚠
- p.Pro124Ala Multiple submitters
- c.144+8C>T Single submitter
- p.Ala223= Single submitter
- p.Ala490Pro Single submitter
- p.Arg363Cys Single submitter
- p.Asn501Ser Single submitter
- p.Gly205= Single submitter
- p.Gly415Arg Single submitter
- p.Leu971Phe Single submitter
- p.Met626Thr Single submitter
- p.Phe326Leu Single submitter
- p.Ser479Leu Single submitter
- p.Ser687Pro Single submitter
- p.Ser921Leu Single submitter
- p.Thr39= Single submitter
- p.Val744Ala Single submitter
- c.608+7C>T No assertion criteria CLMN-related disorder
- p.Ala207= No assertion criteria CLMN-related disorder
- p.Arg313= No assertion criteria CLMN-related disorder
- p.Glu245= No assertion criteria CLMN-related disorder
- p.Pro261= No assertion criteria CLMN-related disorder
- p.Pro850= No assertion criteria CLMN-related disorder
- p.Ser154= No assertion criteria CLMN-related disorder
- p.Ser479= No assertion criteria CLMN-related disorder
- p.Ser704= No assertion criteria CLMN-related disorder
- p.Tyr928Cys No assertion criteria CLMN-related disorder
Uncertain significance 151
- p.Ala195Val Single submitter ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala220Val Single submitter ⚠
- p.Ala223Gly Single submitter ⚠
- p.Ala371Val Single submitter ⚠
- p.Ala453Gly Single submitter ⚠
- p.Ala579Pro Single submitter ⚠
- p.Ala597Ser Single submitter ⚠
- p.Ala70Ser Single submitter ⚠
- p.Ala737Gly Single submitter ⚠
- p.Ala814Thr Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg334Cys Single submitter ⚠
- p.Arg334His Single submitter ⚠
- p.Arg334Pro Single submitter ⚠
- p.Arg517Cys Single submitter ⚠
- p.Arg608Thr Single submitter ⚠
- p.Arg667Cys Single submitter ⚠
- p.Arg667His Single submitter ⚠
- p.Arg825Lys Single submitter ⚠
- p.Arg90Cys Single submitter ⚠
- p.Arg90Gly Single submitter ⚠
- p.Arg90His Single submitter ⚠
- p.Arg90Pro Single submitter ⚠
- p.Arg932Lys Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Arg943Gln Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn146Lys Single submitter ⚠
- p.Asn339Lys Single submitter ⚠
- p.Asn418Lys Single submitter ⚠
- p.Asn43Ser Single submitter ⚠
- p.Asn50Thr Single submitter ⚠
- p.Asn531His Single submitter ⚠
- p.Asn79Thr Single submitter ⚠
- p.Asn950Ser Single submitter ⚠
- p.Asp166Asn Single submitter ⚠
- p.Asp302Val Single submitter ⚠
- p.Asp460Gly Single submitter ⚠
- p.Asp519Asn Single submitter ⚠
- p.Asp536Asn Single submitter ⚠
- p.Asp554Asn Single submitter ⚠
- p.Asp592Glu Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Asp61Glu Single submitter ⚠
- p.Asp746Asn Single submitter ⚠
- p.Asp749Asn Single submitter ⚠
- p.Asp7Tyr Single submitter ⚠
- p.Asp872His Single submitter ⚠
- p.Asp897Asn Single submitter ⚠
- p.Asp998Asn Single submitter ⚠
- p.Cys445Phe Single submitter ⚠
- p.Gln680His Single submitter ⚠
- p.Gln796Lys Single submitter ⚠
- p.Gln824Arg Single submitter ⚠
- p.Gln974Lys Single submitter ⚠
- p.Glu248Gly Single submitter ⚠
- p.Glu308Lys Single submitter ⚠
- p.Glu513Ala Single submitter ⚠
- p.Glu513Gly Single submitter ⚠
- p.Glu599Lys Single submitter ⚠
- p.Glu637Lys Single submitter ⚠
- p.Glu753Gly Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly391Asp Single submitter ⚠
- p.Gly674Glu Single submitter ⚠
- p.Gly701Ala Single submitter ⚠
- p.Gly707Val Single submitter ⚠
- p.His259Arg Single submitter ⚠
- p.His427Gln Single submitter ⚠
- p.His731Arg Single submitter ⚠
- p.His819Tyr Single submitter ⚠
- p.His961Arg Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Ile119Leu Single submitter ⚠
- p.Ile190Val Single submitter ⚠
- p.Ile493Phe Single submitter ⚠
- p.Ile847Arg Single submitter ⚠
- p.Ile847Thr Single submitter ⚠
- p.Ile944Val Single submitter ⚠
- p.Ile981Met Single submitter ⚠
- p.Ile981Phe Single submitter ⚠
- p.Leu700Phe Single submitter ⚠
- p.Leu716Phe Single submitter ⚠
- p.Leu851Pro Single submitter ⚠
- p.Lys424Glu Single submitter ⚠
- p.Lys751Arg Single submitter ⚠
- p.Met270Ile Single submitter ⚠
- p.Met534Thr Single submitter ⚠
- p.Met833Ile Single submitter ⚠
- p.Phe311Leu Single submitter ⚠
- p.Phe446Cys Single submitter ⚠
- p.Phe566Ile Single submitter ⚠
- p.Phe566Leu Single submitter ⚠
- p.Phe566Ser Single submitter ⚠
- p.Phe573Val Single submitter ⚠
- p.Phe983Ser Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro291Leu Single submitter ⚠
- p.Pro346Arg Single submitter ⚠
- p.Pro346Gln Single submitter ⚠
- p.Pro421Leu Single submitter ⚠
- p.Pro450Leu Single submitter ⚠
- p.Pro51Arg Single submitter ⚠
- p.Pro527Leu Single submitter ⚠
- p.Pro52Arg Single submitter ⚠
- p.Pro668Leu Single submitter ⚠
- p.Pro723Leu Single submitter ⚠
- p.Pro786Thr Single submitter ⚠
- p.Pro809Ser Single submitter ⚠
- p.Pro818Thr Single submitter ⚠
- p.Ser368Cys Single submitter ⚠
- p.Ser399Arg Single submitter ⚠
- p.Ser410Pro Single submitter ⚠
- p.Ser478Pro Single submitter ⚠
- p.Ser575Cys Single submitter ⚠
- p.Ser619Leu Single submitter ⚠
- p.Ser692Gly Single submitter ⚠
- p.Ser713Pro Single submitter ⚠
- p.Ser777Phe Single submitter ⚠
- p.Ser792Thr Single submitter ⚠
- p.Ser87Ala Single submitter ⚠
- p.Ser87Leu Single submitter ⚠
- p.Ser88Leu Single submitter ⚠
- p.Thr144Ala Single submitter ⚠
- p.Thr144Ile Single submitter ⚠
- p.Thr243Ile Single submitter ⚠
- p.Thr329Ser Single submitter ⚠
- p.Thr337Asn Single submitter ⚠
- p.Thr377Ala Single submitter ⚠
- p.Thr432Ile Single submitter ⚠
- p.Thr546Ile Single submitter ⚠
- p.Thr649Ile Single submitter ⚠
- p.Thr699Ile Single submitter ⚠
- p.Thr808Ile Single submitter ⚠
- p.Trp8Arg Single submitter ⚠
- p.Tyr555Cys Single submitter ⚠
- p.Tyr732Cys Single submitter ⚠
- p.Tyr84His Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val327Ile Single submitter ⚠
- p.Val327Phe Single submitter ⚠
- p.Val33Gly Single submitter ⚠
- p.Val387Ile Single submitter ⚠
- p.Val496Gly Single submitter ⚠
- p.Val721Ile Single submitter ⚠
- p.Val885Ala Single submitter ⚠
- p.Val929Ile Single submitter ⚠