MARCKS — 91 ClinVar variants

All ClinVar germline MARCKS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

1 Likely pathogenic · 3 Benign · 4 Likely benign · 83 Uncertain significance

Full MARCKS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 72

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

The independent predictors disagree with each other — read with care.

All MARCKS variants

Likely pathogenic 1

p.Glu206fs Single submitter

Benign 3

p.183EA[3] Single submitter
p.Glu227Asp Single submitter
p.Pro250Leu Single submitter

Likely benign 4

p.Ala142= Single submitter
p.Ala278= Single submitter
p.Thr150= Single submitter
p.Val264Ala Single submitter

Uncertain significance 83

p.Ala100Asp Single submitter ⚠
p.Ala142Asp Single submitter ⚠
p.Ala184Val Single submitter ⚠
p.Ala201Asp Single submitter ⚠
p.Ala201Val Single submitter ⚠
p.Ala203Val Single submitter ⚠
p.Ala209Val Single submitter ⚠
p.Ala217Val Single submitter ⚠
p.Ala222Glu Single submitter ⚠
p.Ala230Val Single submitter ⚠
p.Ala237Gly Single submitter ⚠
p.Ala258Val Single submitter ⚠
p.Ala281Val Single submitter ⚠
p.Ala284Val Single submitter ⚠
p.Ala298Pro Single submitter ⚠
p.Ala303Ser Single submitter ⚠
p.Ala306Asp Single submitter ⚠
p.Ala31Glu Single submitter ⚠
p.Ala325Pro Single submitter ⚠
p.Ala50Thr Single submitter ⚠
p.Ala75Thr Single submitter ⚠
p.Ala80Val Single submitter ⚠
p.Ala85Val Single submitter ⚠
p.Ala91Pro Single submitter ⚠
p.Ala91Val Single submitter ⚠
p.Ala93Val Single submitter ⚠
p.Ala9Thr Single submitter
p.Asp194Asn Single submitter ⚠
p.Asp68Ala Single submitter ⚠
p.Gln214Arg Single submitter ⚠
p.Gln214Pro Single submitter ⚠
p.Gln293Pro Single submitter ⚠
p.Gln315Arg Single submitter ⚠
p.Gln318His Single submitter ⚠
p.Glu104Lys Single submitter ⚠
p.Glu106Asp Single submitter ⚠
p.Glu110Ala Single submitter ⚠
p.Glu115Asp Single submitter ⚠
p.Glu115Lys Single submitter ⚠
p.Glu123Gln Single submitter ⚠
p.Glu185Gly Single submitter ⚠
p.Glu236Asp Single submitter ⚠
p.Glu292Ala Single submitter ⚠
p.Glu294Ala Single submitter ⚠
p.Glu86Lys Single submitter ⚠
p.Gly124Val Single submitter ⚠
p.Gly181Val Single submitter ⚠
p.Gly192Asp Single submitter ⚠
p.Gly199Asp Single submitter ⚠
p.Gly219Val Single submitter ⚠
p.Gly88Ser Single submitter ⚠
p.Lys154Asn Single submitter ⚠
p.Lys175Arg Single submitter ⚠
p.Lys268Thr Single submitter ⚠
p.Lys55Arg Single submitter ⚠
p.Lys69Gln Single submitter ⚠
p.Lys69Glu Single submitter ⚠
p.Phe164Leu Single submitter ⚠
p.Pro116Ala Single submitter ⚠
p.Pro116Arg Single submitter ⚠
p.Pro116Ser Single submitter ⚠
p.Pro116Thr Single submitter ⚠
p.Pro119Leu Single submitter ⚠
p.Pro287Ser Single submitter ⚠
p.Pro290Thr Single submitter ⚠
p.Pro291Arg Single submitter ⚠
p.Pro297Leu Single submitter ⚠
p.Pro319Ser Single submitter ⚠
p.Pro327Ala Single submitter ⚠
p.Pro327Gln Single submitter ⚠
p.Pro327Thr Single submitter ⚠
p.Pro72Ser Single submitter ⚠
p.Pro90Leu Single submitter ⚠
p.Pro96His Single submitter ⚠
p.Ser134Phe Single submitter ⚠
p.Ser262Gly Single submitter ⚠
p.Ser26Thr Single submitter ⚠
p.Ser275Ile Single submitter ⚠
p.Ser307Leu Single submitter ⚠
p.Ser307Pro Single submitter ⚠
p.Ser314Leu Single submitter ⚠
p.Thr143Met Single submitter ⚠
p.Val264Leu Single submitter ⚠