MUC1 — 163 ClinVar variants
All ClinVar germline MUC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Pathogenic · 6 Likely pathogenic · 4 Conflicting · 4 Benign · 44 Likely benign · 103 Uncertain significance
Full MUC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll MUC1 variants
Pathogenic 2
- p.Ala135fs Multiple submitters tubulointerstitial kidney disease, autosomal dominant, 2
- p.Thr144fs Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
Likely pathogenic 6
- c.1354-1G>A Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Arg360Ter Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Gln1160Ter Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ser100fs Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ser38fs Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ser62fs Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
Conflicting classifications of pathogenicity 4
- p.Arg99Cys Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Gly165Ser Single submitter MUC1-related disorder
- p.Pro26Ala Single submitter Inborn genetic diseases
- p.Thr232Ile Single submitter Inborn genetic diseases
Benign 4
- p.Thr31= Multiple submitters tubulointerstitial kidney disease, autosomal dominant, 2
- c.160-1600A>C Single submitter
- c.160-1706A>G Single submitter
- p.Ser109= Single submitter
Likely benign 44
- c.159+219A>G Multiple submitters
- c.160-52C>G Multiple submitters
- p.Ser1032Thr Multiple submitters
- c.159+159A>G Single submitter
- c.159+180G>C Single submitter
- c.159+234C>T Single submitter
- c.159+249C>T Single submitter
- c.159+255C>A Single submitter
- c.159+285G>C Single submitter
- c.159+309C>T Single submitter
- c.159+339G>C Single submitter
- c.159+93G>A Single submitter
- c.160-154C>T Single submitter
- c.160-180G>A Single submitter
- c.160-236A>C Single submitter
- c.160-307C>T Single submitter
- c.160-328G>C Single submitter
- c.160-358C>T Single submitter
- c.187-42G>A Single submitter
- c.265+168A>T Single submitter
- c.283-18C>T Single submitter
- c.338+5A>G Single submitter
- c.339-19C>T Single submitter
- c.435-27_467del Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- c.58+15G>A Single submitter
- c.59-23T>C Single submitter
- c.597+15T>G Single submitter
- c.747+9G>A Single submitter
- c.*64C>T Single submitter
- p.Ala161Thr Single submitter Inborn genetic diseases
- p.Ala27Thr Single submitter Inborn genetic diseases
- p.Ala383Ser Single submitter Inborn genetic diseases
- p.Ala391= Single submitter Inborn genetic diseases
- p.Ala401= Single submitter Inborn genetic diseases
- p.Asn133Thr Single submitter Inborn genetic diseases
- p.Asp156= Single submitter
- p.Gly210Arg Single submitter Inborn genetic diseases
- p.Leu402= Single submitter Inborn genetic diseases
- p.Leu407Phe Single submitter Inborn genetic diseases
- p.Pro91Leu Single submitter Inborn genetic diseases
- p.Ser38= Single submitter
- p.Val405Ile Single submitter Inborn genetic diseases
- p.Leu11= No assertion criteria MUC1-related disorder
- p.Thr153= No assertion criteria MUC1-related disorder
Uncertain significance 103
- p.Val127Ile Multiple submitters tubulointerstitial kidney disease, autosomal dominant, 2
- c.151_159+5del Single submitter MUC1-related disorder
- c.159+5G>C Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- c.160-158C>G Single submitter
- c.160-208_160-205dup Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ala116Pro Single submitter Inborn genetic diseases
- p.Ala124Thr Single submitter Inborn genetic diseases
- p.Ala130Asp Single submitter Inborn genetic diseases
- p.Ala136Asp Single submitter Inborn genetic diseases
- p.Ala141Val Single submitter Inborn genetic diseases
- p.Ala156Ser Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ala161Val Single submitter Inborn genetic diseases
- p.Ala170Asp Single submitter Inborn genetic diseases
- p.Ala176Ser Single submitter Inborn genetic diseases
- p.Ala176Thr Single submitter Inborn genetic diseases
- p.Ala181Ser Single submitter Inborn genetic diseases
- p.Ala210Gly Single submitter Inborn genetic diseases
- p.Ala235Ser Single submitter Inborn genetic diseases
- p.Ala27Gly Single submitter Inborn genetic diseases
- p.Ala27Pro Single submitter Inborn genetic diseases
- p.Ala383Thr Single submitter Inborn genetic diseases
- p.Ala476Glu Single submitter Inborn genetic diseases
- p.Ala482Pro Single submitter Inborn genetic diseases
- p.Ala48Val Single submitter Inborn genetic diseases
- p.Ala94Gly Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Arg337Gln Single submitter Inborn genetic diseases
- p.Arg416His Single submitter Inborn genetic diseases
- p.Arg446Cys Single submitter Inborn genetic diseases
- p.Arg455Gly Single submitter Inborn genetic diseases
- p.Asn173Ser Single submitter Inborn genetic diseases
- p.Asn351Lys Single submitter Inborn genetic diseases
- p.Asp126Glu Single submitter Inborn genetic diseases
- p.Asp172Glu Single submitter Inborn genetic diseases
- p.Asp293Glu Single submitter Inborn genetic diseases
- p.Asp293Tyr Single submitter Inborn genetic diseases
- p.Asp872_Pro881del Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Cys202fs Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Gln264His Single submitter Inborn genetic diseases
- p.Gln6Glu Single submitter Inborn genetic diseases
- p.Glu43Gly Single submitter Inborn genetic diseases
- p.Glu94Ala Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Gly158Val Single submitter Inborn genetic diseases
- p.Gly313Arg Single submitter Inborn genetic diseases
- p.Gly32Ser Single submitter Inborn genetic diseases
- p.Gly382Glu Single submitter Inborn genetic diseases
- p.Gly387Asp Single submitter Inborn genetic diseases
- p.Gly41Ser Single submitter Inborn genetic diseases
- p.His185Arg Single submitter Inborn genetic diseases
- p.His73Gln Single submitter Inborn genetic diseases
- p.Ile309Thr Single submitter Inborn genetic diseases
- p.Ile404Val Single submitter Inborn genetic diseases
- p.Leu123Val Single submitter MUC1-related disorder
- p.Leu197Pro Single submitter
- p.Leu281Ile Single submitter Inborn genetic diseases
- p.Leu298Arg Single submitter Inborn genetic diseases
- p.Lys240Thr Single submitter Inborn genetic diseases
- p.Lys25Ile Single submitter Inborn genetic diseases
- p.Lys311Arg Single submitter Inborn genetic diseases
- p.Met305Thr Single submitter Inborn genetic diseases
- p.Phe273Cys Single submitter Inborn genetic diseases
- p.Pro131Leu Single submitter Inborn genetic diseases
- p.Pro157Leu Single submitter Inborn genetic diseases
- p.Pro163Ala Single submitter Inborn genetic diseases
- p.Pro163Thr Single submitter Inborn genetic diseases
- p.Pro175Leu Single submitter Inborn genetic diseases
- p.Pro224Arg Single submitter Inborn genetic diseases
- p.Pro253Ser Single submitter Inborn genetic diseases
- p.Pro3Ser Single submitter Inborn genetic diseases
- p.Pro75Ser Single submitter Inborn genetic diseases
- p.Ser158= Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ser169Leu Single submitter Inborn genetic diseases
- p.Ser169Trp Single submitter Inborn genetic diseases
- p.Ser195Thr Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ser207Tyr Single submitter Inborn genetic diseases
- p.Ser216Ile Single submitter Inborn genetic diseases
- p.Ser222Ala Single submitter Inborn genetic diseases
- p.Ser225Gly Single submitter Inborn genetic diseases
- p.Ser240fs Single submitter tubulointerstitial kidney disease, autosomal dominant, 2
- p.Ser256Phe Single submitter Inborn genetic diseases
- p.Ser38Phe Single submitter Inborn genetic diseases
- p.Ser481Cys Single submitter Inborn genetic diseases
- p.Ser68Ter Single submitter
- p.Ser72Asn Single submitter Inborn genetic diseases
- p.Ser80Phe Single submitter Inborn genetic diseases
- p.Thr153Asn Single submitter Inborn genetic diseases
- p.Thr160Pro Single submitter Inborn genetic diseases
- p.Thr206Ser Single submitter Inborn genetic diseases
- p.Thr233Asn Single submitter Inborn genetic diseases
- p.Thr250Met Single submitter Inborn genetic diseases
- p.Thr267Pro Single submitter Inborn genetic diseases
- p.Thr340Ala Single submitter Inborn genetic diseases
- p.Thr355Arg Single submitter Inborn genetic diseases
- p.Trp388Arg Single submitter Inborn genetic diseases
- p.Tyr353Cys Single submitter Inborn genetic diseases
- p.Val17Leu Single submitter Inborn genetic diseases
- p.Val269Phe Single submitter Inborn genetic diseases
- p.Val396Ile Single submitter Inborn genetic diseases
- p.Val477Ala Single submitter Inborn genetic diseases
- p.Val69Ala Single submitter Inborn genetic diseases
- p.Ala267Gly No assertion criteria MUC1-related disorder
- p.Phe10Leu No assertion criteria
- p.Thr144Met No assertion criteria MUC1-related disorder
- p.Val101_Ser120del No assertion criteria