EXOC4 — 156 ClinVar variants
All ClinVar germline EXOC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
1 Likely pathogenic · 4 Benign · 6 Likely benign · 145 Uncertain significance
Full EXOC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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EXOC4 p.Gln578Arg
Likely pathogenic
No assertion criteria
Meckel syndrome
Predictors lean, ClinVar uncertain 105
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EXOC4 p.Ala153Val Uncertain significance Single submitter
- EXOC4 p.Ala225Asp Uncertain significance Single submitter
- EXOC4 p.Ala250Thr Uncertain significance Single submitter
- EXOC4 p.Ala287Val Uncertain significance Single submitter
- EXOC4 p.Ala351Gly Uncertain significance Single submitter
- EXOC4 p.Ala354Ser Uncertain significance Single submitter
- EXOC4 p.Ala409Asp Uncertain significance Single submitter
- EXOC4 p.Ala419Thr Uncertain significance Single submitter
- EXOC4 p.Ala427Gly Uncertain significance Single submitter
- EXOC4 p.Ala427Pro Uncertain significance Single submitter
- EXOC4 p.Ala427Val Uncertain significance Single submitter
- EXOC4 p.Ala621Val Uncertain significance Single submitter
- EXOC4 p.Ala637Ser Uncertain significance Single submitter
- EXOC4 p.Ala823Thr Uncertain significance Single submitter
- EXOC4 p.Ala823Val Uncertain significance Single submitter
- EXOC4 p.Ala830Thr Uncertain significance Single submitter
- EXOC4 p.Ala928Thr Uncertain significance Single submitter
- EXOC4 p.Arg108Trp Uncertain significance Single submitter
- EXOC4 p.Arg198Gln Uncertain significance Single submitter
- EXOC4 p.Arg198Trp Uncertain significance Single submitter
- EXOC4 p.Arg211His Uncertain significance Single submitter
- EXOC4 p.Arg325Pro Uncertain significance Single submitter
- EXOC4 p.Arg407His Uncertain significance Single submitter
- EXOC4 p.Arg467Gln Uncertain significance Single submitter
- EXOC4 p.Arg702Cys Uncertain significance Single submitter
- EXOC4 p.Arg773Cys Uncertain significance Single submitter
- EXOC4 p.Arg82Cys Uncertain significance Single submitter
- EXOC4 p.Arg934Cys Uncertain significance Single submitter
- EXOC4 p.Asn133Thr Uncertain significance Single submitter
- EXOC4 p.Asn405Ser Uncertain significance Single submitter
- EXOC4 p.Asn439Tyr Uncertain significance Single submitter
- EXOC4 p.Asn478Asp Uncertain significance Single submitter
- EXOC4 p.Asn854Asp Uncertain significance Single submitter
- EXOC4 p.Asn85Ser Uncertain significance Single submitter
- EXOC4 p.Cys144Tyr Uncertain significance Single submitter
- EXOC4 p.Cys774Arg Uncertain significance Single submitter
- EXOC4 p.Gln136Arg Uncertain significance Single submitter
- EXOC4 p.Gln334Pro Uncertain significance Single submitter
- EXOC4 p.Gln374Lys Uncertain significance Single submitter
- EXOC4 p.Gln613Arg Uncertain significance Single submitter
- EXOC4 p.Gln879Arg Uncertain significance Single submitter
- EXOC4 p.Gln945Arg Uncertain significance Single submitter
- EXOC4 p.Glu332Asp Uncertain significance Single submitter
- EXOC4 p.Glu375Lys Uncertain significance Single submitter
- EXOC4 p.Glu38Lys Uncertain significance Single submitter
- EXOC4 p.Glu682Ala Uncertain significance Single submitter
- EXOC4 p.Glu95Asp Uncertain significance Single submitter
- EXOC4 p.Gly45Cys Uncertain significance Single submitter
- EXOC4 p.Gly7Asp Uncertain significance Single submitter
- EXOC4 p.His356Arg Uncertain significance Single submitter
- EXOC4 p.His595Asp Uncertain significance Single submitter
- EXOC4 p.His927Gln Uncertain significance Single submitter
- EXOC4 p.Ile116Val Uncertain significance Single submitter
- EXOC4 p.Ile299Thr Uncertain significance Single submitter
- EXOC4 p.Ile300Thr Uncertain significance Single submitter
- EXOC4 p.Ile389Val Uncertain significance Single submitter
- EXOC4 p.Ile626Val Uncertain significance Single submitter
- EXOC4 p.Ile848Leu Uncertain significance Single submitter
- EXOC4 p.Leu151Val Uncertain significance Single submitter
- EXOC4 p.Leu188Pro Uncertain significance Single submitter
- EXOC4 p.Leu371Val Uncertain significance Single submitter
- EXOC4 p.Leu605Val Uncertain significance Single submitter
- EXOC4 p.Leu612Ile Uncertain significance Single submitter
- EXOC4 p.Leu780Gln Uncertain significance Single submitter
- EXOC4 p.Leu817Phe Uncertain significance Single submitter
- EXOC4 p.Lys101Asn Uncertain significance Single submitter
- EXOC4 p.Lys388Gln Uncertain significance Single submitter
- EXOC4 p.Lys490Arg Uncertain significance Single submitter
- EXOC4 p.Lys490Thr Uncertain significance Single submitter
- EXOC4 p.Lys953Gln Uncertain significance Single submitter
- EXOC4 p.Met656Val Uncertain significance Single submitter
- EXOC4 p.Met713Ile Uncertain significance Single submitter
- EXOC4 p.Met713Val Uncertain significance Single submitter
- EXOC4 p.Met828Val Uncertain significance Single submitter
- EXOC4 p.Met886Val Uncertain significance Single submitter
- EXOC4 p.Phe527Leu Uncertain significance Single submitter
- EXOC4 p.Pro370Ala Uncertain significance Single submitter
- EXOC4 p.Pro523Ser Uncertain significance Single submitter
- EXOC4 p.Pro751Ser Uncertain significance Single submitter
- EXOC4 p.Pro751Thr Uncertain significance Single submitter
- EXOC4 p.Pro812Ala Uncertain significance Single submitter
- EXOC4 p.Ser204Leu Uncertain significance Single submitter
- EXOC4 p.Ser220Tyr Uncertain significance Single submitter
- EXOC4 p.Ser555Pro Uncertain significance Single submitter
- EXOC4 p.Ser579Cys Uncertain significance Single submitter
- EXOC4 p.Ser722Asn Uncertain significance Single submitter
- EXOC4 p.Ser831Thr Uncertain significance Single submitter
- EXOC4 p.Thr249Ala Uncertain significance Single submitter
- EXOC4 p.Thr295Ala Uncertain significance Single submitter
- EXOC4 p.Thr30Pro Uncertain significance Single submitter
- EXOC4 p.Thr485Arg Uncertain significance Single submitter
- EXOC4 p.Thr733Ile Uncertain significance Single submitter
- EXOC4 p.Tyr323Ser Uncertain significance Single submitter
- EXOC4 p.Tyr380Cys Uncertain significance Single submitter
- EXOC4 p.Tyr418Ser Uncertain significance Single submitter
- EXOC4 p.Tyr615His Uncertain significance Single submitter
- EXOC4 p.Tyr925Cys Uncertain significance Single submitter
- EXOC4 p.Val191Ile Uncertain significance Single submitter
- EXOC4 p.Val232Ala Uncertain significance Single submitter
- EXOC4 p.Val329Ile Uncertain significance Single submitter
- EXOC4 p.Val352Ile Uncertain significance Single submitter
- EXOC4 p.Val587Ile Uncertain significance Single submitter
- EXOC4 p.Val608Met Uncertain significance Single submitter
- EXOC4 p.Val805Leu Uncertain significance Single submitter
- EXOC4 p.Val974Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- EXOC4 p.Gly550Arg Benign Multiple submitters
- EXOC4 p.Arg211Cys Uncertain significance Single submitter
- EXOC4 p.Arg56Cys Uncertain significance Single submitter
- EXOC4 p.Arg56Pro Uncertain significance Single submitter
- EXOC4 p.Arg861Cys Uncertain significance Single submitter
- EXOC4 p.Arg934His Uncertain significance Single submitter
- EXOC4 p.Asp477Asn Uncertain significance Single submitter
- EXOC4 p.Asp809Asn Uncertain significance Single submitter
- EXOC4 p.Glu272Gly Uncertain significance Single submitter
- EXOC4 p.Glu463Ala Uncertain significance Single submitter
- EXOC4 p.Glu543Lys Uncertain significance Single submitter
- EXOC4 p.Glu614Lys Uncertain significance Single submitter
- EXOC4 p.Glu908Lys Uncertain significance Single submitter
- EXOC4 p.Gly285Cys Uncertain significance Single submitter
- EXOC4 p.His121Asn Uncertain significance Single submitter
- EXOC4 p.Ile281Met Uncertain significance Single submitter
- EXOC4 p.Ile451Met Uncertain significance Single submitter
- EXOC4 p.Ile955Ser Uncertain significance Single submitter
- EXOC4 p.Leu23Gln Uncertain significance Single submitter
- EXOC4 p.Leu590Ile Uncertain significance Single submitter
- EXOC4 p.Leu597Phe Uncertain significance Single submitter
- EXOC4 p.Leu909Phe Uncertain significance Single submitter
- EXOC4 p.Lys284Asn Uncertain significance Single submitter
- EXOC4 p.Lys490Ile Uncertain significance Single submitter
- EXOC4 p.Met607Val Uncertain significance Single submitter
- EXOC4 p.Ser15Arg Uncertain significance Single submitter
- EXOC4 p.Ser17Arg Uncertain significance Single submitter
- EXOC4 p.Ser21Pro Uncertain significance Single submitter
- EXOC4 p.Ser448Phe Uncertain significance Single submitter
- EXOC4 p.Thr316Ile Uncertain significance Single submitter
- EXOC4 p.Thr497Ala Uncertain significance Single submitter
- EXOC4 p.Val488Phe Uncertain significance Single submitter
- EXOC4 p.Val914Leu Uncertain significance Single submitter
All EXOC4 variants
Likely pathogenic 1
- p.Gln578Arg No assertion criteria Meckel syndrome ⚠
Benign 4
- p.Gly550Arg Multiple submitters ⚠
- p.Ile926= Multiple submitters
- p.Leu749= Multiple submitters
- p.Pro20= Multiple submitters
Likely benign 6
- c.1417+70974_1417+70999dup Single submitter familial colorectal cancer type X
- p.Ala354Thr Single submitter
- p.Asn538Ser Single submitter
- p.Ser766= Single submitter
- p.Tyr465= Single submitter
- p.Val530Met Single submitter
Uncertain significance 145
- c.1417+45990_1417+46001dup Single submitter familial colorectal cancer type X
- c.1417+54940G>A Single submitter familial colorectal cancer type X
- c.1417+55217_1417+55218del Single submitter familial colorectal cancer type X
- c.1418-70589_1418-70578delinsA Single submitter facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- p.Ala153Val Single submitter ⚠
- p.Ala225Asp Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala287Val Single submitter ⚠
- p.Ala351Gly Single submitter ⚠
- p.Ala354Ser Single submitter ⚠
- p.Ala409Asp Single submitter ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala427Gly Single submitter ⚠
- p.Ala427Pro Single submitter ⚠
- p.Ala427Val Single submitter ⚠
- p.Ala621Val Single submitter ⚠
- p.Ala637Ser Single submitter ⚠
- p.Ala823Thr Single submitter ⚠
- p.Ala823Val Single submitter ⚠
- p.Ala830Thr Single submitter ⚠
- p.Ala928Thr Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg198Trp Single submitter ⚠
- p.Arg211Cys Single submitter ⚠
- p.Arg211His Single submitter ⚠
- p.Arg325Pro Single submitter ⚠
- p.Arg407His Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg56Cys Single submitter ⚠
- p.Arg56Pro Single submitter ⚠
- p.Arg702Cys Single submitter ⚠
- p.Arg773Cys Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Arg861Cys Single submitter ⚠
- p.Arg934Cys Single submitter ⚠
- p.Arg934His Single submitter ⚠
- p.Asn133Thr Single submitter ⚠
- p.Asn405Ser Single submitter ⚠
- p.Asn439Tyr Single submitter ⚠
- p.Asn478Asp Single submitter ⚠
- p.Asn854Asp Single submitter ⚠
- p.Asn85Ser Single submitter ⚠
- p.Asp477Asn Single submitter ⚠
- p.Asp809Asn Single submitter ⚠
- p.Cys144Tyr Single submitter ⚠
- p.Cys774Arg Single submitter ⚠
- p.Gln136Arg Single submitter ⚠
- p.Gln334Pro Single submitter ⚠
- p.Gln374Lys Single submitter ⚠
- p.Gln613Arg Single submitter ⚠
- p.Gln879Arg Single submitter ⚠
- p.Gln945Arg Single submitter ⚠
- p.Glu265Lys Single submitter
- p.Glu272Gly Single submitter ⚠
- p.Glu332Asp Single submitter ⚠
- p.Glu375Lys Single submitter ⚠
- p.Glu38Lys Single submitter ⚠
- p.Glu463Ala Single submitter ⚠
- p.Glu543Lys Single submitter ⚠
- p.Glu614Lys Single submitter ⚠
- p.Glu682Ala Single submitter ⚠
- p.Glu908Lys Single submitter ⚠
- p.Glu95Asp Single submitter ⚠
- p.Gly285Cys Single submitter ⚠
- p.Gly45Cys Single submitter ⚠
- p.Gly7Asp Single submitter ⚠
- p.His121Asn Single submitter ⚠
- p.His356Arg Single submitter ⚠
- p.His595Asp Single submitter ⚠
- p.His927Gln Single submitter ⚠
- p.Ile116Val Single submitter ⚠
- p.Ile281Met Single submitter ⚠
- p.Ile299Thr Single submitter ⚠
- p.Ile300Thr Single submitter ⚠
- p.Ile389Val Single submitter ⚠
- p.Ile451Met Single submitter ⚠
- p.Ile626Val Single submitter ⚠
- p.Ile848Leu Single submitter ⚠
- p.Ile955Ser Single submitter ⚠
- p.Leu151Val Single submitter ⚠
- p.Leu188Pro Single submitter ⚠
- p.Leu23Gln Single submitter ⚠
- p.Leu371Val Single submitter ⚠
- p.Leu590Ile Single submitter ⚠
- p.Leu597Phe Single submitter ⚠
- p.Leu605Val Single submitter ⚠
- p.Leu612Ile Single submitter ⚠
- p.Leu780Gln Single submitter ⚠
- p.Leu817Phe Single submitter ⚠
- p.Leu909Phe Single submitter ⚠
- p.Lys101Asn Single submitter ⚠
- p.Lys284Asn Single submitter ⚠
- p.Lys388Gln Single submitter ⚠
- p.Lys490Arg Single submitter ⚠
- p.Lys490Ile Single submitter ⚠
- p.Lys490Thr Single submitter ⚠
- p.Lys953Gln Single submitter ⚠
- p.Met607Val Single submitter ⚠
- p.Met656Val Single submitter ⚠
- p.Met713Ile Single submitter ⚠
- p.Met713Thr Single submitter
- p.Met713Val Single submitter ⚠
- p.Met828Val Single submitter ⚠
- p.Met886Val Single submitter ⚠
- p.Phe527Leu Single submitter ⚠
- p.Pro370Ala Single submitter ⚠
- p.Pro523Ser Single submitter ⚠
- p.Pro751Ser Single submitter ⚠
- p.Pro751Thr Single submitter ⚠
- p.Pro812Ala Single submitter ⚠
- p.Ser15Arg Single submitter ⚠
- p.Ser17Arg Single submitter ⚠
- p.Ser204Leu Single submitter ⚠
- p.Ser21Pro Single submitter ⚠
- p.Ser220Tyr Single submitter ⚠
- p.Ser448Phe Single submitter ⚠
- p.Ser555Pro Single submitter ⚠
- p.Ser579Cys Single submitter ⚠
- p.Ser722Asn Single submitter ⚠
- p.Ser78Asn Single submitter
- p.Ser831Thr Single submitter ⚠
- p.Thr249Ala Single submitter ⚠
- p.Thr295Ala Single submitter ⚠
- p.Thr30Pro Single submitter ⚠
- p.Thr316Ile Single submitter ⚠
- p.Thr485Arg Single submitter ⚠
- p.Thr497Ala Single submitter ⚠
- p.Thr733Ile Single submitter ⚠
- p.Tyr323Ser Single submitter ⚠
- p.Tyr380Cys Single submitter ⚠
- p.Tyr418Ser Single submitter ⚠
- p.Tyr615His Single submitter ⚠
- p.Tyr789Cys Single submitter
- p.Tyr925Cys Single submitter ⚠
- p.Val191Ile Single submitter ⚠
- p.Val232Ala Single submitter ⚠
- p.Val329Ile Single submitter ⚠
- p.Val352Ile Single submitter ⚠
- p.Val488Phe Single submitter ⚠
- p.Val587Ile Single submitter ⚠
- p.Val608Met Single submitter ⚠
- p.Val805Leu Single submitter ⚠
- p.Val914Leu Single submitter ⚠
- p.Val974Ile Single submitter ⚠