MELK — 102 ClinVar variants

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

6 Benign · 7 Likely benign · 89 Uncertain significance

Full MELK 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 71

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

Predictors split 11

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

All MELK variants

Benign 6

p.Arg333Lys Multiple submitters
p.Lys26Arg Multiple submitters
p.Lys406= Multiple submitters
p.Thr348Ile Multiple submitters
p.Thr361= Multiple submitters
p.Val540Ala Single submitter

Likely benign 7

p.Ala362Thr Single submitter
p.Arg389Gln Single submitter
p.Gln265Ter Single submitter
p.Leu381Ser Single submitter
p.Tyr122= Single submitter
p.Tyr396His Single submitter
p.Val287Ile Single submitter

Uncertain significance 89

p.Ala216Pro Single submitter ⚠
p.Ala369Glu Single submitter ⚠
p.Ala369Val Single submitter ⚠
p.Ala550Thr Single submitter ⚠
p.Arg110Trp Single submitter ⚠
p.Arg114Cys Single submitter ⚠
p.Arg326Gln Single submitter ⚠
p.Arg326Gly Single submitter ⚠
p.Arg326Trp Single submitter ⚠
p.Arg502Trp Single submitter ⚠
p.Arg504Cys Single submitter ⚠
p.Arg504Ser Single submitter ⚠
p.Arg53Trp Single submitter ⚠
p.Arg546Ser Single submitter ⚠
p.Arg630Gln Single submitter ⚠
p.Asn268Ser Single submitter ⚠
p.Asn422Ser Single submitter ⚠
p.Asn449Ser Single submitter ⚠
p.Asn485Ile Single submitter ⚠
p.Asn576Lys Single submitter ⚠
p.Asn63Lys Single submitter ⚠
p.Asp43Tyr Single submitter
p.Asp50Glu Single submitter ⚠
p.Cys154Ser Single submitter ⚠
p.Cys474Phe Single submitter ⚠
p.Gln181Glu Single submitter ⚠
p.Gln181Lys Single submitter ⚠
p.Gln242Glu Single submitter ⚠
p.Gln309Arg Single submitter ⚠
p.Glu142Asp Single submitter ⚠
p.Glu178Asp Single submitter ⚠
p.Glu289Ala Single submitter ⚠
p.Glu399fs Single submitter
p.Glu516Lys Single submitter ⚠
p.Glu614Lys Single submitter ⚠
p.Glu87Gln Single submitter ⚠
p.Gly553Arg Single submitter ⚠
p.Gly92Val Single submitter ⚠
p.His293Tyr Single submitter ⚠
p.Ile149Thr Single submitter
p.Ile17Leu Single submitter ⚠
p.Ile17Thr Single submitter
p.Ile180Met Single submitter
p.Ile252Asn Single submitter ⚠
p.Ile263Met Single submitter ⚠
p.Ile538Asn Single submitter ⚠
p.Ile538Val Single submitter ⚠
p.Ile69Val Single submitter ⚠
p.Ile98Met Single submitter
p.Leu334Phe Single submitter ⚠
p.Leu408Ser Single submitter ⚠
p.Leu412Val Single submitter ⚠
p.Leu530Phe Single submitter ⚠
p.Lys26Thr Single submitter ⚠
p.Lys323Glu Single submitter ⚠
p.Lys395Glu Single submitter ⚠
p.Lys525Ile Single submitter ⚠
p.Lys545Glu Single submitter ⚠
p.Lys547Glu Single submitter ⚠
p.Lys585Asn Single submitter ⚠
p.Met301Thr Single submitter ⚠
p.Met493Ile Single submitter ⚠
p.Met515Thr Single submitter ⚠
p.Phe113Ser Single submitter ⚠
p.Phe83Tyr Single submitter ⚠
p.Pro388Ala Single submitter ⚠
p.Pro519Ser Single submitter ⚠
p.Pro621Ala Single submitter ⚠
p.Pro621Leu Single submitter ⚠
p.Ser125Arg Single submitter ⚠
p.Ser235Gly Single submitter ⚠
p.Ser253Phe Single submitter ⚠
p.Ser405Tyr Single submitter ⚠
p.Ser602Pro Single submitter ⚠
p.Thr109Ser Single submitter ⚠
p.Thr314Met Single submitter ⚠
p.Thr383Ala Single submitter ⚠
p.Thr78Ile Single submitter ⚠
p.Trp231Ter Single submitter hereditary breast ovarian cancer syndrome
p.Trp397Arg Single submitter ⚠
p.Tyr200His Single submitter ⚠
p.Tyr317His Single submitter ⚠
p.Tyr561Cys Single submitter ⚠
p.Tyr97Cys Single submitter ⚠
p.Val123Met Single submitter ⚠
p.Val192Gly Single submitter ⚠
p.Val368Met Single submitter ⚠
p.Val651Leu Single submitter ⚠
p.Val75Gly Single submitter ⚠