MCM6 — 135 ClinVar variants
All ClinVar germline MCM6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
4 Benign · 3 Benign/Likely benign · 20 Likely benign · 108 Uncertain significance
Full MCM6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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MCM6 p.Arg468Trp
Uncertain significance
Multiple submitters
lactose intolerance adult type
- MCM6 p.Ala107Ser Uncertain significance Single submitter
- MCM6 p.Ala213Gly Uncertain significance Single submitter
- MCM6 p.Ala23Ser Uncertain significance Single submitter
- MCM6 p.Ala304Val Uncertain significance Single submitter
- MCM6 p.Ala4Val Uncertain significance Single submitter
- MCM6 p.Ala6Ser Uncertain significance Single submitter
- MCM6 p.Ala742Val Uncertain significance Single submitter
- MCM6 p.Ala793Val Uncertain significance Single submitter
- MCM6 p.Ala7Gly Uncertain significance Single submitter
- MCM6 p.Ala93Ser Uncertain significance Single submitter
- MCM6 p.Arg130Gly Uncertain significance Single submitter
- MCM6 p.Arg136Cys Uncertain significance Single submitter
- MCM6 p.Arg143Gln Uncertain significance Single submitter
- MCM6 p.Arg181Gln Uncertain significance Single submitter
- MCM6 p.Arg189Gly Uncertain significance Single submitter
- MCM6 p.Arg19Leu Uncertain significance Single submitter
- MCM6 p.Arg217Gln Uncertain significance Single submitter
- MCM6 p.Arg222His Uncertain significance Single submitter
- MCM6 p.Arg282Gln Uncertain significance Single submitter
- MCM6 p.Arg468Gln Uncertain significance Single submitter
- MCM6 p.Arg633Gln Uncertain significance Single submitter
- MCM6 p.Arg722Gln Uncertain significance Single submitter
- MCM6 p.Arg779Gln Uncertain significance Single submitter
- MCM6 p.Asn519Thr Uncertain significance Single submitter
- MCM6 p.Asn665Ser Uncertain significance Single submitter
- MCM6 p.Asn684Ile Uncertain significance Single submitter
- MCM6 p.Asn684Ser Uncertain significance Single submitter
- MCM6 p.Asn697Ser Uncertain significance Single submitter
- MCM6 p.Asp41Asn Uncertain significance Single submitter
- MCM6 p.Asp554Glu Uncertain significance Single submitter
- MCM6 p.Asp592Gly Uncertain significance Single submitter
- MCM6 p.Asp739Asn Uncertain significance Single submitter
- MCM6 p.Cys721Phe Uncertain significance Single submitter
- MCM6 p.Gln673His Uncertain significance Single submitter
- MCM6 p.Glu561Lys Uncertain significance Single submitter
- MCM6 p.Glu800Asp Uncertain significance Single submitter
- MCM6 p.Glu8Asp Uncertain significance Single submitter
- MCM6 p.Gly280Ser Uncertain significance Single submitter
- MCM6 p.Gly488Arg Uncertain significance Single submitter
- MCM6 p.Gly606Val Uncertain significance Single submitter
- MCM6 p.Gly679Asp Uncertain significance Single submitter
- MCM6 p.Gly682Val Uncertain significance Single submitter
- MCM6 p.Gly797Val Uncertain significance Single submitter
-
MCM6 p.His600Tyr
Uncertain significance
Single submitter
lactose intolerance adult type
- MCM6 p.His686Arg Uncertain significance Single submitter
- MCM6 p.His778Tyr Uncertain significance Single submitter
- MCM6 p.His782Tyr Uncertain significance Single submitter
- MCM6 p.His785Arg Uncertain significance Single submitter
- MCM6 p.Ile208Val Uncertain significance Single submitter
- MCM6 p.Ile459Met Uncertain significance Single submitter
- MCM6 p.Ile563Val Uncertain significance Single submitter
- MCM6 p.Ile767Thr Uncertain significance Single submitter
- MCM6 p.Ile773Val Uncertain significance Single submitter
- MCM6 p.Ile79Val Uncertain significance Single submitter
- MCM6 p.Leu224Ser Uncertain significance Single submitter
- MCM6 p.Leu315Pro Uncertain significance Single submitter
- MCM6 p.Leu555Val Uncertain significance Single submitter
- MCM6 p.Leu569Pro Uncertain significance Single submitter
- MCM6 p.Leu726Val Uncertain significance Single submitter
- MCM6 p.Leu780Ile Uncertain significance Single submitter
- MCM6 p.Leu780Val Uncertain significance Single submitter
- MCM6 p.Lys517Arg Uncertain significance Single submitter
- MCM6 p.Met477Val Uncertain significance Single submitter
- MCM6 p.Met674Arg Uncertain significance Single submitter
- MCM6 p.Met674Thr Uncertain significance Single submitter
- MCM6 p.Phe97Tyr Uncertain significance Single submitter
- MCM6 p.Pro105Leu Uncertain significance Single submitter
- MCM6 p.Pro505Thr Uncertain significance Single submitter
- MCM6 p.Ser129Thr Uncertain significance Single submitter
- MCM6 p.Ser153Asn Uncertain significance Single submitter
- MCM6 p.Thr259Ile Uncertain significance Single submitter
- MCM6 p.Thr306Ala Uncertain significance Single submitter
- MCM6 p.Thr379Ala Uncertain significance Single submitter
- MCM6 p.Thr791Pro Uncertain significance Single submitter
- MCM6 p.Tyr567Cys Uncertain significance Single submitter
- MCM6 p.Val226Ile Uncertain significance Single submitter
- MCM6 p.Val251Gly Uncertain significance Single submitter
- MCM6 p.Val337Glu Uncertain significance Single submitter
-
MCM6 p.Val456Met
Uncertain significance
Single submitter
lactose intolerance adult type
- MCM6 p.Val63Met Uncertain significance Single submitter
- MCM6 p.Val645Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- MCM6 p.Ala230Asp Uncertain significance Single submitter
- MCM6 p.Ala495Thr Uncertain significance Single submitter
- MCM6 p.Arg263Cys Uncertain significance Single submitter
- MCM6 p.Arg295Ser Uncertain significance Single submitter
- MCM6 p.Arg55Ser Uncertain significance Single submitter
- MCM6 p.Arg658Cys Uncertain significance Single submitter
- MCM6 p.Asn361Ser Likely benign Single submitter
-
MCM6 p.Asp202Gly
Uncertain significance
Single submitter
neurodevelopmental disorder
- MCM6 p.Asp808Gly Uncertain significance Single submitter
- MCM6 p.Glu759Gly Uncertain significance Single submitter
- MCM6 p.Ile444Met Uncertain significance Single submitter
- MCM6 p.Leu257Phe Uncertain significance Single submitter
- MCM6 p.Phe71Leu Uncertain significance Single submitter
- MCM6 p.Ser762Cys Uncertain significance Single submitter
- MCM6 p.Tyr111Cys Uncertain significance Single submitter
- MCM6 p.Val409Leu Uncertain significance Single submitter
- MCM6 p.Val734Gly Uncertain significance Single submitter
-
MCM6 p.Arg136His
Likely benign
No assertion criteria
MCM6-related disorder
-
MCM6 p.Arg92Trp
Likely benign
No assertion criteria
MCM6-related disorder
All MCM6 variants
Benign 4
- c.255-3C>T Single submitter
- c.781+10C>T No assertion criteria MCM6-related disorder
- c.-8A>G No assertion criteria MCM6-related disorder
- p.Ala304= No assertion criteria MCM6-related disorder
Benign/Likely benign 3
- p.Ile756= Multiple submitters
- p.Leu3= Multiple submitters
- p.Tyr810His Multiple submitters
Likely benign 20
- c.1078+40A>C Single submitter lactose intolerance
- c.1362+16A>C Single submitter
- c.1626+10T>G Single submitter
- c.1918-6G>T Single submitter
- c.2053+15C>T Single submitter
- c.2349+16C>T Single submitter
- p.Arg92Gln Single submitter
- p.Asn361Ser Single submitter ⚠
- p.Asp466= Single submitter
- p.Asp761= Single submitter
- p.Gln171= Single submitter
- p.Glu410= Single submitter
- p.Val270= Single submitter
- p.Val734Met Single submitter
- c.2209+10_2209+11del No assertion criteria MCM6-related disorder
- c.254+6G>A No assertion criteria MCM6-related disorder
- p.Ala113= No assertion criteria MCM6-related disorder
- p.Arg136His No assertion criteria MCM6-related disorder ⚠
- p.Arg92Trp No assertion criteria MCM6-related disorder ⚠
- p.Gln48= No assertion criteria MCM6-related disorder
Uncertain significance 108
- p.Arg468Trp Multiple submitters lactose intolerance adult type ⚠
- p.Ile552Val Multiple submitters lactose intolerance adult type
- p.Ala107Ser Single submitter ⚠
- p.Ala113Val Single submitter
- p.Ala213Gly Single submitter ⚠
- p.Ala230Asp Single submitter ⚠
- p.Ala23Ser Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala423Val Single submitter
- p.Ala495Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala6Ser Single submitter ⚠
- p.Ala742Val Single submitter ⚠
- p.Ala793Val Single submitter ⚠
- p.Ala7Gly Single submitter ⚠
- p.Ala93Ser Single submitter ⚠
- p.Arg130Gly Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg143Gln Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg189Gly Single submitter ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg263Cys Single submitter ⚠
- p.Arg269Cys Single submitter
- p.Arg282Gln Single submitter ⚠
- p.Arg295Ser Single submitter ⚠
- p.Arg468Gln Single submitter ⚠
- p.Arg55Ser Single submitter ⚠
- p.Arg619Ter Single submitter lactose intolerance adult type
- p.Arg633Gln Single submitter ⚠
- p.Arg658Cys Single submitter ⚠
- p.Arg722Gln Single submitter ⚠
- p.Arg779Gln Single submitter ⚠
- p.Asn519Thr Single submitter ⚠
- p.Asn665Ser Single submitter ⚠
- p.Asn684Ile Single submitter ⚠
- p.Asn684Ser Single submitter ⚠
- p.Asn697Ser Single submitter ⚠
- p.Asp202Gly Single submitter neurodevelopmental disorder ⚠
- p.Asp41Asn Single submitter ⚠
- p.Asp554Glu Single submitter ⚠
- p.Asp592Gly Single submitter ⚠
- p.Asp739Asn Single submitter ⚠
- p.Asp808Gly Single submitter ⚠
- p.Cys721Phe Single submitter ⚠
- p.Gln176Ter Single submitter lactose intolerance adult type
- p.Gln673His Single submitter ⚠
- p.Glu125Gln Single submitter
- p.Glu561Lys Single submitter ⚠
- p.Glu759Gly Single submitter ⚠
- p.Glu800Asp Single submitter ⚠
- p.Glu8Asp Single submitter ⚠
- p.Gly280Ser Single submitter ⚠
- p.Gly488Arg Single submitter ⚠
- p.Gly606Val Single submitter ⚠
- p.Gly679Asp Single submitter ⚠
- p.Gly682Val Single submitter ⚠
- p.Gly797Val Single submitter ⚠
- p.His600Tyr Single submitter lactose intolerance adult type ⚠
- p.His686Arg Single submitter ⚠
- p.His778Tyr Single submitter ⚠
- p.His782Tyr Single submitter ⚠
- p.His785Arg Single submitter ⚠
- p.Ile208Val Single submitter ⚠
- p.Ile444Met Single submitter ⚠
- p.Ile459Met Single submitter ⚠
- p.Ile563Val Single submitter ⚠
- p.Ile767Thr Single submitter ⚠
- p.Ile773Val Single submitter ⚠
- p.Ile79Val Single submitter ⚠
- p.Leu224Ser Single submitter ⚠
- p.Leu257Phe Single submitter ⚠
- p.Leu315Pro Single submitter ⚠
- p.Leu555Val Single submitter ⚠
- p.Leu569Pro Single submitter ⚠
- p.Leu726Val Single submitter ⚠
- p.Leu780Ile Single submitter ⚠
- p.Leu780Val Single submitter ⚠
- p.Lys517Arg Single submitter ⚠
- p.Met477Val Single submitter ⚠
- p.Met674Arg Single submitter ⚠
- p.Met674Thr Single submitter ⚠
- p.Phe71Leu Single submitter ⚠
- p.Phe97Tyr Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro505Thr Single submitter ⚠
- p.Ser129Thr Single submitter ⚠
- p.Ser153Asn Single submitter ⚠
- p.Ser762Cys Single submitter ⚠
- p.Thr259Ile Single submitter ⚠
- p.Thr306Ala Single submitter ⚠
- p.Thr379Ala Single submitter ⚠
- p.Thr791Pro Single submitter ⚠
- p.Tyr111Cys Single submitter ⚠
- p.Tyr567Cys Single submitter ⚠
- p.Tyr84His Single submitter
- p.Val226Ile Single submitter ⚠
- p.Val251Gly Single submitter ⚠
- p.Val337Glu Single submitter ⚠
- p.Val409Leu Single submitter ⚠
- p.Val409Met Single submitter
- p.Val456Met Single submitter lactose intolerance adult type ⚠
- p.Val63Met Single submitter ⚠
- p.Val645Leu Single submitter ⚠
- p.Val734Gly Single submitter ⚠
- c.1917+323T>C No assertion criteria LACTASE PERSISTENCE