MARK1 — 81 ClinVar variants
All ClinVar germline MARK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
2 Benign · 6 Likely benign · 73 Uncertain significance
Full MARK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MARK1 p.Arg577Gln Uncertain significance Multiple submitters
- MARK1 p.Ala352Thr Uncertain significance Single submitter
- MARK1 p.Ala442Asp Uncertain significance Single submitter
- MARK1 p.Arg268Gln Uncertain significance Single submitter
- MARK1 p.Arg391Gln Uncertain significance Single submitter
- MARK1 p.Arg421Cys Uncertain significance Single submitter
- MARK1 p.Arg550His Uncertain significance Single submitter
- MARK1 p.Arg662His Uncertain significance Single submitter
- MARK1 p.Asn17Ser Uncertain significance Single submitter
- MARK1 p.Asn331Ser Uncertain significance Single submitter
- MARK1 p.Asn385Ser Uncertain significance Single submitter
- MARK1 p.Asn398Ser Uncertain significance Single submitter
- MARK1 p.Asp283Val Uncertain significance Single submitter
- MARK1 p.Asp512Glu Uncertain significance Single submitter
- MARK1 p.Asp664Val Uncertain significance Single submitter
- MARK1 p.Cys387Tyr Uncertain significance Single submitter
- MARK1 p.Gln260Arg Uncertain significance Single submitter
- MARK1 p.Glu226Lys Uncertain significance Single submitter
- MARK1 p.Glu471Lys Uncertain significance Single submitter
- MARK1 p.Glu691Gly Uncertain significance Single submitter
- MARK1 p.Gly497Asp Uncertain significance Single submitter
- MARK1 p.Gly682Ala Uncertain significance Single submitter
- MARK1 p.Gly83Arg Uncertain significance Single submitter
- MARK1 p.Ile775Val Uncertain significance Single submitter
- MARK1 p.Ile91Val Uncertain significance Single submitter
- MARK1 p.Leu762Trp Uncertain significance Single submitter
- MARK1 p.Lys176Asn Uncertain significance Single submitter
- MARK1 p.Lys455Asn Uncertain significance Single submitter
- MARK1 p.Lys689Arg Uncertain significance Single submitter
- MARK1 p.Met136Val Uncertain significance Single submitter
- MARK1 p.Met362Thr Uncertain significance Single submitter
- MARK1 p.Pro328Leu Uncertain significance Single submitter
- MARK1 p.Pro41Leu Uncertain significance Single submitter
- MARK1 p.Pro489Arg Uncertain significance Single submitter
- MARK1 p.Pro631Ser Uncertain significance Single submitter
- MARK1 p.Pro634Ser Uncertain significance Single submitter
- MARK1 p.Ser490Asn Uncertain significance Single submitter
- MARK1 p.Ser523Gly Uncertain significance Single submitter
- MARK1 p.Ser531Gly Uncertain significance Single submitter
- MARK1 p.Ser534Pro Uncertain significance Single submitter
- MARK1 p.Ser573Phe Uncertain significance Single submitter
- MARK1 p.Ser649Thr Uncertain significance Single submitter
- MARK1 p.Ser695Cys Uncertain significance Single submitter
- MARK1 p.Thr15Met Uncertain significance Single submitter
- MARK1 p.Thr25Ile Uncertain significance Single submitter
- MARK1 p.Thr48Met Uncertain significance Single submitter
- MARK1 p.Thr51Ala Uncertain significance Single submitter
- MARK1 p.Thr580Ile Uncertain significance Single submitter
- MARK1 p.Thr596Ser Uncertain significance Single submitter
- MARK1 p.Thr648Met Uncertain significance Single submitter
- MARK1 p.Thr676Ile Uncertain significance Single submitter
- MARK1 p.Tyr177Phe Uncertain significance Single submitter
- MARK1 p.Tyr279Cys Uncertain significance Single submitter
- MARK1 p.Val466Ala Uncertain significance Single submitter
- MARK1 p.Val515Ile Uncertain significance Single submitter
- MARK1 p.Val584Met Uncertain significance Single submitter
- MARK1 p.Val753Met Uncertain significance Single submitter
- MARK1 p.Val80Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- MARK1 p.Arg577Trp Uncertain significance Single submitter
- MARK1 p.Asp716Asn Uncertain significance Single submitter
- MARK1 p.Gly427Asp Uncertain significance Single submitter
- MARK1 p.His551Tyr Uncertain significance Single submitter
- MARK1 p.Lys121Asn Uncertain significance Single submitter
- MARK1 p.Pro326Thr Uncertain significance Single submitter
- MARK1 p.Val80Ala Uncertain significance Single submitter
All MARK1 variants
Benign 2
- p.Ala541Pro Multiple submitters
- c.552+24_552+25del Single submitter
Likely benign 6
Uncertain significance 73
- p.Arg577Gln Multiple submitters ⚠
- p.Ala352Thr Single submitter ⚠
- p.Ala442Asp Single submitter ⚠
- p.Arg268Gln Single submitter ⚠
- p.Arg391Gln Single submitter ⚠
- p.Arg421Cys Single submitter ⚠
- p.Arg42Trp Single submitter
- p.Arg550His Single submitter ⚠
- p.Arg577Trp Single submitter ⚠
- p.Arg61Cys Single submitter
- p.Arg620Leu Single submitter
- p.Arg662His Single submitter ⚠
- p.Arg722Ter Single submitter
- p.Asn17Ser Single submitter ⚠
- p.Asn331Ser Single submitter ⚠
- p.Asn385Ser Single submitter ⚠
- p.Asn398Ser Single submitter ⚠
- p.Asp283Val Single submitter ⚠
- p.Asp512Glu Single submitter ⚠
- p.Asp512Tyr Single submitter
- p.Asp664Val Single submitter ⚠
- p.Asp716Asn Single submitter ⚠
- p.Cys387Tyr Single submitter ⚠
- p.Gln260Arg Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Glu471Lys Single submitter ⚠
- p.Glu691Gly Single submitter ⚠
- p.Gly427Asp Single submitter ⚠
- p.Gly497Asp Single submitter ⚠
- p.Gly682Ala Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.His551Tyr Single submitter ⚠
- p.Ile66Val Single submitter
- p.Ile775Val Single submitter ⚠
- p.Ile91Val Single submitter ⚠
- p.Leu762Trp Single submitter ⚠
- p.Lys121Asn Single submitter ⚠
- p.Lys176Asn Single submitter ⚠
- p.Lys455Asn Single submitter ⚠
- p.Lys689Arg Single submitter ⚠
- p.Met136Val Single submitter ⚠
- p.Met362Thr Single submitter ⚠
- p.Pro326Thr Single submitter ⚠
- p.Pro328Leu Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Pro489Arg Single submitter ⚠
- p.Pro631Ser Single submitter ⚠
- p.Pro634Ser Single submitter ⚠
- p.Ser490Asn Single submitter ⚠
- p.Ser523Gly Single submitter ⚠
- p.Ser531Gly Single submitter ⚠
- p.Ser534Pro Single submitter ⚠
- p.Ser573Phe Single submitter ⚠
- p.Ser649Thr Single submitter ⚠
- p.Ser695Cys Single submitter ⚠
- p.Thr15Met Single submitter ⚠
- p.Thr25Ile Single submitter ⚠
- p.Thr282Ala Single submitter
- p.Thr48Met Single submitter ⚠
- p.Thr51Ala Single submitter ⚠
- p.Thr580Ile Single submitter ⚠
- p.Thr596Ser Single submitter ⚠
- p.Thr648Met Single submitter ⚠
- p.Thr676Ile Single submitter ⚠
- p.Tyr177Phe Single submitter ⚠
- p.Tyr279Cys Single submitter ⚠
- p.Val245Ile Single submitter
- p.Val466Ala Single submitter ⚠
- p.Val515Ile Single submitter ⚠
- p.Val584Met Single submitter ⚠
- p.Val753Met Single submitter ⚠
- p.Val80Ala Single submitter ⚠
- p.Val80Ile Single submitter ⚠