MASTL — 242 ClinVar variants
All ClinVar germline MASTL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →
5 Conflicting · 28 Benign · 24 Benign/Likely benign · 48 Likely benign · 137 Uncertain significance
Full MASTL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 127
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MASTL p.Asp160Asn
Conflicting
Single submitter
thrombocytopenia
- MASTL p.Glu396Gln Conflicting Single submitter
-
MASTL p.Ser552Gly
Conflicting
Single submitter
thrombocytopenia
-
MASTL p.Tyr687Cys
Conflicting
Single submitter
thrombocytopenia
Predictors lean, ClinVar uncertain 111
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MASTL p.Asn289Lys
Uncertain significance
Multiple submitters
thrombocytopenia 2
- MASTL p.Asn603Ser Uncertain significance Multiple submitters
- MASTL p.Asn632Asp Uncertain significance Multiple submitters
-
MASTL p.Asn666Ser
Uncertain significance
Multiple submitters
thrombocytopenia
- MASTL p.Ile814Lys Uncertain significance Multiple submitters
- MASTL p.Thr357Met Uncertain significance Multiple submitters
- MASTL p.Thr722Asn Uncertain significance Multiple submitters
- MASTL p.Tyr125Cys Uncertain significance Multiple submitters
-
MASTL p.Val250Ile
Uncertain significance
Multiple submitters
thrombocytopenia
-
MASTL p.Val733Ile
Uncertain significance
Multiple submitters
thrombocytopenia
- MASTL p.Ala276Ser Uncertain significance Single submitter
- MASTL p.Ala352Gly Uncertain significance Single submitter
- MASTL p.Ala352Ser Uncertain significance Single submitter
- MASTL p.Ala389Thr Uncertain significance Single submitter
- MASTL p.Ala664Thr Uncertain significance Single submitter
- MASTL p.Ala67Thr Uncertain significance Single submitter
- MASTL p.Arg206Ile Uncertain significance Single submitter
- MASTL p.Arg592Gly Uncertain significance Single submitter
- MASTL p.Arg656Gln Uncertain significance Single submitter
- MASTL p.Asn221Ser Uncertain significance Single submitter
- MASTL p.Asn278Lys Uncertain significance Single submitter
- MASTL p.Asn471Ser Uncertain significance Single submitter
-
MASTL p.Asn475Asp
Uncertain significance
Single submitter
MASTL-related disorder
- MASTL p.Asn505Asp Uncertain significance Single submitter
- MASTL p.Asn779Ser Uncertain significance Single submitter
- MASTL p.Asp117Asn Uncertain significance Single submitter
- MASTL p.Asp145Val Uncertain significance Single submitter
- MASTL p.Asp256Gly Uncertain significance Single submitter
- MASTL p.Asp559Val Uncertain significance Single submitter
- MASTL p.Asp780Val Uncertain significance Single submitter
- MASTL p.Asp856Asn Uncertain significance Single submitter
- MASTL p.Cys327Gly Uncertain significance Single submitter
- MASTL p.Cys465Phe Uncertain significance Single submitter
- MASTL p.Cys503Ser Uncertain significance Single submitter
- MASTL p.Gln101Lys Uncertain significance Single submitter
- MASTL p.Gln708Leu Uncertain significance Single submitter
- MASTL p.Gln784Lys Uncertain significance Single submitter
- MASTL p.Gln809Pro Uncertain significance Single submitter
- MASTL p.Gln844Arg Uncertain significance Single submitter
- MASTL p.Glu10Asp Uncertain significance Single submitter
-
MASTL p.Glu167Asp
Uncertain significance
Single submitter
thrombocytopenia 2
- MASTL p.Glu356Ala Uncertain significance Single submitter
- MASTL p.Glu624Lys Uncertain significance Single submitter
-
MASTL p.Glu841Lys
Uncertain significance
Single submitter
thrombocytopenia
-
MASTL p.Gly116Arg
Uncertain significance
Single submitter
thrombocytopenia
- MASTL p.Gly395Glu Uncertain significance Single submitter
-
MASTL p.Gly431Ala
Uncertain significance
Single submitter
MASTL-related disorder
- MASTL p.Gly876Ala Uncertain significance Single submitter
- MASTL p.His373Arg Uncertain significance Single submitter
- MASTL p.His421Tyr Uncertain significance Single submitter
-
MASTL p.His470Asn
Uncertain significance
Single submitter
thrombocytopenia
- MASTL p.His95Arg Uncertain significance Single submitter
- MASTL p.Ile224Thr Uncertain significance Single submitter
- MASTL p.Ile234Thr Uncertain significance Single submitter
-
MASTL p.Ile37Leu
Uncertain significance
Single submitter
MASTL-related disorder
- MASTL p.Ile459Lys Uncertain significance Single submitter
- MASTL p.Ile509Val Uncertain significance Single submitter
- MASTL p.Ile578Val Uncertain significance Single submitter
- MASTL p.Ile93Val Uncertain significance Single submitter
- MASTL p.Leu100Pro Uncertain significance Single submitter
- MASTL p.Leu113Pro Uncertain significance Single submitter
- MASTL p.Leu214Phe Uncertain significance Single submitter
- MASTL p.Leu268Val Uncertain significance Single submitter
- MASTL p.Leu404Gln Uncertain significance Single submitter
- MASTL p.Leu449Trp Uncertain significance Single submitter
- MASTL p.Leu549Ile Uncertain significance Single submitter
- MASTL p.Leu636Ser Uncertain significance Single submitter
-
MASTL p.Leu678Ser
Uncertain significance
Single submitter
Autosomal dominant thrombocytopenia
- MASTL p.Leu764Val Uncertain significance Single submitter
- MASTL p.Lys463Glu Uncertain significance Single submitter
- MASTL p.Lys469Arg Uncertain significance Single submitter
- MASTL p.Lys506Glu Uncertain significance Single submitter
- MASTL p.Lys9Glu Uncertain significance Single submitter
- MASTL p.Met189Arg Uncertain significance Single submitter
- MASTL p.Met411Thr Uncertain significance Single submitter
- MASTL p.Met533Val Uncertain significance Single submitter
- MASTL p.Met681Thr Uncertain significance Single submitter
- MASTL p.Pro11Leu Uncertain significance Single submitter
- MASTL p.Pro159Leu Uncertain significance Single submitter
- MASTL p.Pro30Leu Uncertain significance Single submitter
- MASTL p.Pro670Ala Uncertain significance Single submitter
- MASTL p.Ser138Pro Uncertain significance Single submitter
- MASTL p.Ser36Gly Uncertain significance Single submitter
- MASTL p.Ser42Asn Uncertain significance Single submitter
- MASTL p.Ser581Asn Uncertain significance Single submitter
- MASTL p.Ser581Ile Uncertain significance Single submitter
- MASTL p.Ser585Gly Uncertain significance Single submitter
- MASTL p.Ser703Cys Uncertain significance Single submitter
-
MASTL p.Thr173Met
Uncertain significance
Single submitter
thrombocytopenia
- MASTL p.Thr381Ala Uncertain significance Single submitter
- MASTL p.Thr415Ala Uncertain significance Single submitter
- MASTL p.Thr485Arg Uncertain significance Single submitter
- MASTL p.Thr618Ser Uncertain significance Single submitter
- MASTL p.Thr698Ile Uncertain significance Single submitter
- MASTL p.Thr873Asn Uncertain significance Single submitter
- MASTL p.Trp761Arg Uncertain significance Single submitter
- MASTL p.Trp840Arg Uncertain significance Single submitter
- MASTL p.Tyr107Cys Uncertain significance Single submitter
- MASTL p.Tyr107His Uncertain significance Single submitter
- MASTL p.Tyr136His Uncertain significance Single submitter
- MASTL p.Tyr468Cys Uncertain significance Single submitter
- MASTL p.Tyr50Cys Uncertain significance Single submitter
- MASTL p.Val106Ile Uncertain significance Single submitter
- MASTL p.Val109Ile Uncertain significance Single submitter
- MASTL p.Val21Met Uncertain significance Single submitter
- MASTL p.Val386Ile Uncertain significance Single submitter
- MASTL p.Val397Phe Uncertain significance Single submitter
- MASTL p.Val510Ile Uncertain significance Single submitter
- MASTL p.Val642Met Uncertain significance Single submitter
- MASTL p.Val653Ile Uncertain significance Single submitter
-
MASTL p.Arg650Gly
Uncertain significance
No assertion criteria
MASTL-related disorder
Predictors split 12
The independent predictors disagree with each other — read with care.
- MASTL p.Thr722Ser Uncertain significance Multiple submitters
- MASTL p.Gln784Pro Uncertain significance Single submitter
- MASTL p.Ile114Thr Uncertain significance Single submitter
- MASTL p.Ile186Ser Uncertain significance Single submitter
-
MASTL p.Ile37Thr
Uncertain significance
Single submitter
thrombocytopenia
- MASTL p.Met132Ile Uncertain significance Single submitter
- MASTL p.Met132Thr Uncertain significance Single submitter
-
MASTL p.Phe877Leu
Uncertain significance
Single submitter
MASTL-related disorder
- MASTL p.Ser217Leu Uncertain significance Single submitter
- MASTL p.Thr696Ile Uncertain significance Single submitter
- MASTL p.Trp323Cys Uncertain significance Single submitter
- MASTL p.Val106Phe Uncertain significance Single submitter
All MASTL variants
Conflicting classifications of pathogenicity 5
- c.2266+9T>C Single submitter thrombocytopenia
- p.Asp160Asn Single submitter thrombocytopenia ⚠
- p.Glu396Gln Single submitter ⚠
- p.Ser552Gly Single submitter thrombocytopenia ⚠
- p.Tyr687Cys Single submitter thrombocytopenia ⚠
Benign 28
- c.186+37C>T Multiple submitters
- c.2125-94T>A Multiple submitters
- c.2483-33T>C Multiple submitters
- c.465-32G>C Multiple submitters
- c.812-28G>A Multiple submitters
- c.-27T>C Multiple submitters thrombocytopenia
- c.-28C>A Multiple submitters thrombocytopenia
- c.-53G>A Multiple submitters thrombocytopenia
- c.*114A>G Multiple submitters thrombocytopenia
- c.*228T>C Multiple submitters thrombocytopenia
- c.*29T>C Multiple submitters thrombocytopenia
- c.186+165A>T Single submitter
- c.187-273T>C Single submitter
- c.2124+290A>G Single submitter
- c.2267-148G>A Single submitter
- c.2267-204G>T Single submitter
- c.2267-222C>T Single submitter
- c.2267-272C>G Single submitter
- c.2381-197C>T Single submitter
- c.2483-298C>T Single submitter
- c.324+150G>A Single submitter
- c.324+4A>C Single submitter thrombocytopenia
- c.985-194C>T Single submitter
- c.985-305A>C Single submitter
- c.*132G>A Single submitter thrombocytopenia
- c.*60A>T Single submitter thrombocytopenia
- p.Arg383Cys Single submitter thrombocytopenia
- p.Ser452Tyr Single submitter thrombocytopenia
Benign/Likely benign 24
- c.660+12A>T Multiple submitters thrombocytopenia
- c.812-8C>T Multiple submitters thrombocytopenia
- c.985-15T>C Multiple submitters thrombocytopenia
- c.985-7C>T Multiple submitters thrombocytopenia
- c.-12T>G Multiple submitters thrombocytopenia
- p.Ala349Thr Multiple submitters thrombocytopenia
- p.Asp606Tyr Multiple submitters thrombocytopenia
- p.Gln713= Multiple submitters thrombocytopenia
- p.Glu472Gly Multiple submitters thrombocytopenia
- p.Gly12Arg Multiple submitters thrombocytopenia
- p.His496= Multiple submitters thrombocytopenia
- p.His707Leu Multiple submitters thrombocytopenia
- p.Ile594= Multiple submitters thrombocytopenia
- p.Leu291Phe Multiple submitters thrombocytopenia
- p.Lys644Gln Multiple submitters thrombocytopenia
- p.Met339Lys Multiple submitters thrombocytopenia
- p.Met579Thr Multiple submitters thrombocytopenia
- p.Pro159= Multiple submitters thrombocytopenia
- p.Pro620Ala Multiple submitters thrombocytopenia
- p.Thr337Lys Multiple submitters thrombocytopenia
- p.Thr873= Multiple submitters thrombocytopenia
- p.Val610Ile Multiple submitters thrombocytopenia
- p.Val766= Multiple submitters thrombocytopenia
- p.Val874Ile Multiple submitters thrombocytopenia 2
Likely benign 48
- c.2124+20A>C Multiple submitters
- p.Ile609Thr Multiple submitters
- p.Leu404= Multiple submitters thrombocytopenia
- p.Leu749= Multiple submitters thrombocytopenia
- p.Thr741= Multiple submitters
- c.186+14G>A Single submitter
- c.2125-6A>G Single submitter
- c.2266+18T>G Single submitter
- c.2267-3155C>G Single submitter
- c.2267-8G>A Single submitter
- c.2267-9C>T Single submitter
- c.2380+6dup Single submitter
- c.812-11C>G Single submitter
- c.985-10dup Single submitter
- c.-19C>A Single submitter
- c.*51T>A Single submitter thrombocytopenia
- p.Ala377= Single submitter
- p.Ala377Val Single submitter
- p.Arg23Thr Single submitter
- p.Arg831His Single submitter
- p.Asn104= Single submitter
- p.Asn471= Single submitter
- p.Asn568Thr Single submitter thrombocytopenia
- p.Asn807= Single submitter
- p.Cys317= Single submitter
- p.Gln417= Single submitter
- p.Gly637Asp Single submitter
- p.Ile224Val Single submitter
- p.Ile24Val Single submitter
- p.Leu493= Single submitter
- p.Lys497= Single submitter
- p.Met338Thr Single submitter
- p.Met675Ile Single submitter
- p.Pro11Ser Single submitter
- p.Pro626Ala Single submitter thrombocytopenia
- p.Ser120= Single submitter
- p.Ser306= Single submitter
- p.Thr415= Single submitter
- p.Thr519Ile Single submitter thrombocytopenia
- p.Thr821= Single submitter
- p.Val623Asp Single submitter
- p.Glu472Lys No assertion criteria MASTL-related disorder
- p.Leu739= No assertion criteria MASTL-related disorder
- p.Lys346= No assertion criteria MASTL-related disorder
- p.Ser165= No assertion criteria MASTL-related disorder
- p.Thr645= No assertion criteria MASTL-related disorder
- p.Tyr477= No assertion criteria MASTL-related disorder
- p.Tyr98= No assertion criteria MASTL-related disorder
Uncertain significance 137
- p.Asn289Lys Multiple submitters thrombocytopenia 2 ⚠
- p.Asn603Ser Multiple submitters ⚠
- p.Asn632Asp Multiple submitters ⚠
- p.Asn666Ser Multiple submitters thrombocytopenia ⚠
- p.Ile814Lys Multiple submitters ⚠
- p.Lys522= Multiple submitters thrombocytopenia
- p.Thr357Met Multiple submitters ⚠
- p.Thr722Asn Multiple submitters ⚠
- p.Thr722Ser Multiple submitters ⚠
- p.Tyr125Cys Multiple submitters ⚠
- p.Val250Ile Multiple submitters thrombocytopenia ⚠
- p.Val733Ile Multiple submitters thrombocytopenia ⚠
- c.2124+14T>C Single submitter thrombocytopenia
- c.661-2A>G Single submitter
- c.*203T>A Single submitter thrombocytopenia
- c.*252T>C Single submitter thrombocytopenia
- p.Ala276Ser Single submitter ⚠
- p.Ala352Gly Single submitter ⚠
- p.Ala352Ser Single submitter ⚠
- p.Ala389Thr Single submitter ⚠
- p.Ala664Thr Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Arg206Ile Single submitter ⚠
- p.Arg592Gly Single submitter ⚠
- p.Arg656Gln Single submitter ⚠
- p.Arg721Ter Single submitter
- p.Asn221Ser Single submitter ⚠
- p.Asn278Lys Single submitter ⚠
- p.Asn471Ser Single submitter ⚠
- p.Asn475Asp Single submitter MASTL-related disorder ⚠
- p.Asn505Asp Single submitter ⚠
- p.Asn779Ser Single submitter ⚠
- p.Asn842= Single submitter thrombocytopenia
- p.Asp117Asn Single submitter ⚠
- p.Asp145Val Single submitter ⚠
- p.Asp256Gly Single submitter ⚠
- p.Asp559Val Single submitter ⚠
- p.Asp780Val Single submitter ⚠
- p.Asp839= Single submitter thrombocytopenia
- p.Asp856Asn Single submitter ⚠
- p.Cys327Gly Single submitter ⚠
- p.Cys465Phe Single submitter ⚠
- p.Cys503Ser Single submitter ⚠
- p.Gln101Lys Single submitter ⚠
- p.Gln708Leu Single submitter ⚠
- p.Gln709Ter Single submitter
- p.Gln784Lys Single submitter ⚠
- p.Gln784Pro Single submitter ⚠
- p.Gln809Pro Single submitter ⚠
- p.Gln844Arg Single submitter ⚠
- p.Glu10Asp Single submitter ⚠
- p.Glu167Asp Single submitter thrombocytopenia 2 ⚠
- p.Glu332= Single submitter thrombocytopenia
- p.Glu356Ala Single submitter ⚠
- p.Glu624Lys Single submitter ⚠
- p.Glu841Lys Single submitter thrombocytopenia ⚠
- p.Gly116Arg Single submitter thrombocytopenia ⚠
- p.Gly248= Single submitter thrombocytopenia
- p.Gly395Glu Single submitter ⚠
- p.Gly431Ala Single submitter MASTL-related disorder ⚠
- p.Gly876Ala Single submitter ⚠
- p.His373Arg Single submitter ⚠
- p.His421Tyr Single submitter ⚠
- p.His470Asn Single submitter thrombocytopenia ⚠
- p.His95Arg Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Ile186Ser Single submitter ⚠
- p.Ile224Thr Single submitter ⚠
- p.Ile234Thr Single submitter ⚠
- p.Ile37Leu Single submitter MASTL-related disorder ⚠
- p.Ile37Thr Single submitter thrombocytopenia ⚠
- p.Ile459Lys Single submitter ⚠
- p.Ile509Val Single submitter ⚠
- p.Ile578Val Single submitter ⚠
- p.Ile93Val Single submitter ⚠
- p.Leu100Pro Single submitter ⚠
- p.Leu113Pro Single submitter ⚠
- p.Leu214Phe Single submitter ⚠
- p.Leu268Val Single submitter ⚠
- p.Leu404Gln Single submitter ⚠
- p.Leu449Trp Single submitter ⚠
- p.Leu549Ile Single submitter ⚠
- p.Leu636Ser Single submitter ⚠
- p.Leu678Ser Single submitter Autosomal dominant thrombocytopenia ⚠
- p.Leu764Val Single submitter ⚠
- p.Lys463Glu Single submitter ⚠
- p.Lys469Arg Single submitter ⚠
- p.Lys506Glu Single submitter ⚠
- p.Lys9Glu Single submitter ⚠
- p.Met132Ile Single submitter ⚠
- p.Met132Thr Single submitter ⚠
- p.Met189Arg Single submitter ⚠
- p.Met411Thr Single submitter ⚠
- p.Met533Val Single submitter ⚠
- p.Met681Thr Single submitter ⚠
- p.Phe877Leu Single submitter MASTL-related disorder ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro670Ala Single submitter ⚠
- p.Ser138Pro Single submitter ⚠
- p.Ser217Leu Single submitter ⚠
- p.Ser36Gly Single submitter ⚠
- p.Ser42Asn Single submitter ⚠
- p.Ser581Asn Single submitter ⚠
- p.Ser581Ile Single submitter ⚠
- p.Ser585Gly Single submitter ⚠
- p.Ser703Cys Single submitter ⚠
- p.Ser716= Single submitter thrombocytopenia
- p.Thr173Met Single submitter thrombocytopenia ⚠
- p.Thr381Ala Single submitter ⚠
- p.Thr415Ala Single submitter ⚠
- p.Thr485Arg Single submitter ⚠
- p.Thr618Ser Single submitter ⚠
- p.Thr696Ile Single submitter ⚠
- p.Thr698Ile Single submitter ⚠
- p.Thr873Asn Single submitter ⚠
- p.Trp323Cys Single submitter ⚠
- p.Trp761Arg Single submitter ⚠
- p.Trp840Arg Single submitter ⚠
- p.Trp840Ter Single submitter scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities
- p.Tyr107Cys Single submitter ⚠
- p.Tyr107His Single submitter ⚠
- p.Tyr136His Single submitter ⚠
- p.Tyr468Cys Single submitter ⚠
- p.Tyr50Cys Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val106Phe Single submitter ⚠
- p.Val109Ile Single submitter ⚠
- p.Val21Met Single submitter ⚠
- p.Val386Ile Single submitter ⚠
- p.Val397Phe Single submitter ⚠
- p.Val510Ile Single submitter ⚠
- p.Val642Met Single submitter ⚠
- p.Val653Ile Single submitter ⚠
- c.811+2T>G No assertion criteria
- p.Arg650Gly No assertion criteria MASTL-related disorder ⚠