MARK3 — 99 ClinVar variants
All ClinVar germline MARK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
1 Pathogenic · 5 Benign · 13 Likely benign · 80 Uncertain significance
Full MARK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MARK3 p.Ala373Ser Uncertain significance Single submitter
- MARK3 p.Ala481Gly Uncertain significance Single submitter
- MARK3 p.Ala739Val Uncertain significance Single submitter
- MARK3 p.Ala748Asp Uncertain significance Single submitter
- MARK3 p.Arg305Lys Uncertain significance Single submitter
- MARK3 p.Arg453Gln Uncertain significance Single submitter
- MARK3 p.Arg552Gln Uncertain significance Single submitter
- MARK3 p.Arg554His Uncertain significance Single submitter
- MARK3 p.Arg570Trp Uncertain significance Single submitter
- MARK3 p.Arg572Gln Uncertain significance Single submitter
- MARK3 p.Arg74Ser Uncertain significance Single submitter
- MARK3 p.Asn381Ser Uncertain significance Single submitter
- MARK3 p.Asn603Asp Uncertain significance Single submitter
- MARK3 p.Asn641Ser Uncertain significance Single submitter
- MARK3 p.Asn749Ser Uncertain significance Single submitter
- MARK3 p.Asp372Glu Uncertain significance Single submitter
- MARK3 p.Asp689Tyr Uncertain significance Single submitter
- MARK3 p.Gln225Glu Uncertain significance Single submitter
- MARK3 p.Glu49Ala Uncertain significance Single submitter
- MARK3 p.Gly198Ser Uncertain significance Single submitter
- MARK3 p.Gly461Arg Uncertain significance Single submitter
- MARK3 p.Gly462Glu Uncertain significance Single submitter
- MARK3 p.His588Tyr Uncertain significance Single submitter
- MARK3 p.His706Asn Uncertain significance Single submitter
- MARK3 p.Ile122Phe Uncertain significance Single submitter
- MARK3 p.Ile622Leu Uncertain significance Single submitter
- MARK3 p.Ile679Met Uncertain significance Single submitter
- MARK3 p.Leu371Met Uncertain significance Single submitter
- MARK3 p.Leu612Arg Uncertain significance Single submitter
- MARK3 p.Lys526Arg Uncertain significance Single submitter
- MARK3 p.Phe119Leu Uncertain significance Single submitter
- MARK3 p.Phe253Ser Uncertain significance Single submitter
- MARK3 p.Phe699Leu Uncertain significance Single submitter
- MARK3 p.Pro433Ala Uncertain significance Single submitter
- MARK3 p.Pro433Leu Uncertain significance Single submitter
- MARK3 p.Pro467Ser Uncertain significance Single submitter
- MARK3 p.Pro51Ser Uncertain significance Single submitter
- MARK3 p.Pro550Leu Uncertain significance Single submitter
- MARK3 p.Ser377Thr Uncertain significance Single submitter
- MARK3 p.Ser408Gly Uncertain significance Single submitter
- MARK3 p.Ser469Gly Uncertain significance Single submitter
- MARK3 p.Ser511Gly Uncertain significance Single submitter
- MARK3 p.Ser546Gly Uncertain significance Single submitter
- MARK3 p.Thr15Ala Uncertain significance Single submitter
- MARK3 p.Thr497Ile Uncertain significance Single submitter
- MARK3 p.Thr541Ala Uncertain significance Single submitter
- MARK3 p.Val336Met Uncertain significance Single submitter
- MARK3 p.Val405Ala Uncertain significance Single submitter
- MARK3 p.Ser42Phe Uncertain significance No assertion criteria
Predictors split 25
The independent predictors disagree with each other — read with care.
- MARK3 p.Arg262Lys Uncertain significance Single submitter
- MARK3 p.Arg38Gln Uncertain significance Single submitter
- MARK3 p.Arg505Gln Uncertain significance Single submitter
- MARK3 p.Arg677Trp Uncertain significance Single submitter
- MARK3 p.Arg680His Uncertain significance Single submitter
- MARK3 p.Arg695His Uncertain significance Single submitter
- MARK3 p.Asn111Ser Uncertain significance Single submitter
- MARK3 p.Glu323Gly Uncertain significance Single submitter
- MARK3 p.Gly296Ser Uncertain significance Single submitter
- MARK3 p.Gly423Glu Uncertain significance Single submitter
- MARK3 p.Gly567Arg Uncertain significance Single submitter
- MARK3 p.His702Arg Uncertain significance Single submitter
- MARK3 p.Ile301Val Uncertain significance Single submitter
- MARK3 p.Ile53Val Uncertain significance Single submitter
- MARK3 p.Ile679Val Uncertain significance Single submitter
- MARK3 p.Ile733Met Uncertain significance Single submitter
- MARK3 p.Leu130Val Uncertain significance Single submitter
- MARK3 p.Lys208Arg Uncertain significance Single submitter
- MARK3 p.Lys99Arg Uncertain significance Single submitter
- MARK3 p.Met670Val Uncertain significance Single submitter
- MARK3 p.Ser368Phe Uncertain significance Single submitter
- MARK3 p.Ser390Arg Uncertain significance Single submitter
- MARK3 p.Thr736Ala Uncertain significance Single submitter
- MARK3 p.Thr9Met Uncertain significance Single submitter
-
MARK3 p.Ser734Leu
Likely benign
No assertion criteria
MARK3-related disorder
All MARK3 variants
Pathogenic 1
- p.Arg570Gly No assertion criteria visual impairment and progressive phthisis bulbi
Benign 5
- c.413-4A>G Multiple submitters visual impairment and progressive phthisis bulbi
- p.Ala431= No assertion criteria MARK3-related disorder
- p.Lys463= No assertion criteria MARK3-related disorder
- p.Ser443Gly No assertion criteria MARK3-related disorder
- p.Thr438= No assertion criteria MARK3-related disorder
Likely benign 13
- c.243+20A>G Single submitter
- c.298-14_298-11del Single submitter
- c.412+17A>G Single submitter
- p.Gly457= Single submitter
- p.Ser745= Single submitter
- p.Thr360= Single submitter
- c.1586+4G>C No assertion criteria MARK3-related disorder
- c.412+4A>T No assertion criteria MARK3-related disorder
- p.Asn632= No assertion criteria MARK3-related disorder
- p.Gln50= No assertion criteria MARK3-related disorder
- p.Gly296Arg No assertion criteria MARK3-related disorder
- p.Leu625= No assertion criteria MARK3-related disorder
- p.Ser734Leu No assertion criteria MARK3-related disorder ⚠
Uncertain significance 80
- c.1917-11A>G Single submitter
- p.Ala373Ser Single submitter ⚠
- p.Ala481Gly Single submitter ⚠
- p.Ala739Val Single submitter ⚠
- p.Ala748Asp Single submitter ⚠
- p.Arg262Lys Single submitter ⚠
- p.Arg305Lys Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Arg453Gln Single submitter ⚠
- p.Arg505Gln Single submitter ⚠
- p.Arg552Gln Single submitter ⚠
- p.Arg554His Single submitter ⚠
- p.Arg570Trp Single submitter ⚠
- p.Arg572Gln Single submitter ⚠
- p.Arg573Leu Single submitter
- p.Arg597Pro Single submitter
- p.Arg634Thr Single submitter
- p.Arg640Cys Single submitter
- p.Arg677Trp Single submitter ⚠
- p.Arg680His Single submitter ⚠
- p.Arg695His Single submitter ⚠
- p.Arg74Ser Single submitter ⚠
- p.Asn111Ser Single submitter ⚠
- p.Asn381Ser Single submitter ⚠
- p.Asn603Asp Single submitter ⚠
- p.Asn641Ser Single submitter ⚠
- p.Asn749Ser Single submitter ⚠
- p.Asp372Glu Single submitter ⚠
- p.Asp689Tyr Single submitter ⚠
- p.Gln225Glu Single submitter ⚠
- p.Glu323Gly Single submitter ⚠
- p.Glu49Ala Single submitter ⚠
- p.Gly198Ser Single submitter ⚠
- p.Gly296Ser Single submitter ⚠
- p.Gly423Glu Single submitter ⚠
- p.Gly461Arg Single submitter ⚠
- p.Gly462Glu Single submitter ⚠
- p.Gly567Arg Single submitter ⚠
- p.His588Tyr Single submitter ⚠
- p.His702Arg Single submitter ⚠
- p.His706Asn Single submitter ⚠
- p.Ile122Phe Single submitter ⚠
- p.Ile301Val Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Ile622Leu Single submitter ⚠
- p.Ile679Met Single submitter ⚠
- p.Ile679Val Single submitter ⚠
- p.Ile733Met Single submitter ⚠
- p.Leu130Val Single submitter ⚠
- p.Leu371Met Single submitter ⚠
- p.Leu612Arg Single submitter ⚠
- p.Lys208Arg Single submitter ⚠
- p.Lys526Arg Single submitter ⚠
- p.Lys99Arg Single submitter ⚠
- p.Met335Val Single submitter
- p.Met617Ile Single submitter
- p.Met670Val Single submitter ⚠
- p.Phe119Leu Single submitter ⚠
- p.Phe253Ser Single submitter ⚠
- p.Phe699Leu Single submitter ⚠
- p.Pro433Ala Single submitter ⚠
- p.Pro433Leu Single submitter ⚠
- p.Pro467Ser Single submitter ⚠
- p.Pro51Ser Single submitter ⚠
- p.Pro550Leu Single submitter ⚠
- p.Ser368Phe Single submitter ⚠
- p.Ser377Thr Single submitter ⚠
- p.Ser390Arg Single submitter ⚠
- p.Ser408Gly Single submitter ⚠
- p.Ser469Gly Single submitter ⚠
- p.Ser511Gly Single submitter ⚠
- p.Ser546Gly Single submitter ⚠
- p.Thr15Ala Single submitter ⚠
- p.Thr497Ile Single submitter ⚠
- p.Thr541Ala Single submitter ⚠
- p.Thr736Ala Single submitter ⚠
- p.Thr9Met Single submitter ⚠
- p.Val336Met Single submitter ⚠
- p.Val405Ala Single submitter ⚠
- p.Ser42Phe No assertion criteria ⚠