MPIG6B — 45 ClinVar variants
All ClinVar germline MPIG6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
4 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 1 Conflicting · 1 Benign · 3 Benign/Likely benign · 13 Likely benign · 17 Uncertain significance
Full MPIG6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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MPIG6B p.Pro173Gln
Conflicting
Single submitter
thrombocytopenia, anemia, and myelofibrosis
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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MPIG6B p.Ala21Gly
Uncertain significance
Multiple submitters
thrombocythemia 2
-
MPIG6B p.Ala52Thr
Uncertain significance
Multiple submitters
thrombocytopenia, anemia, and myelofibrosis
-
MPIG6B p.Arg83His
Uncertain significance
Multiple submitters
thrombocytopenia, anemia, and myelofibrosis
-
MPIG6B p.Cys108Phe
Uncertain significance
Single submitter
thrombocytopenia, anemia, and myelofibrosis
-
MPIG6B p.Lys193Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MPIG6B p.Pro141Thr Uncertain significance Single submitter
- MPIG6B p.Pro200Leu Uncertain significance Single submitter
- MPIG6B p.Thr127Pro Uncertain significance Single submitter
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MPIG6B p.Trp44Cys
Uncertain significance
No assertion criteria
Abnormal bleeding
Predictors split 1
The independent predictors disagree with each other — read with care.
All MPIG6B variants
Pathogenic 4
- p.Cys108Ter Multiple submitters thrombocytopenia, anemia, and myelofibrosis
- p.Leu11fs Single submitter
- p.Pro27fs Single submitter
- p.Trp163Ter Single submitter thrombocytopenia, anemia, and myelofibrosis
Pathogenic/Likely pathogenic 2
- p.Ala52fs Multiple submitters MPIG6B-related disorder
- p.Arg175Ter Multiple submitters MPIG6B-related disorder
Likely pathogenic 4
- p.Thr186= Multiple submitters C6ORF25 & MPIG6B-related disorders
- p.Ser116fs Single submitter thrombocytopenia, anemia, and myelofibrosis
- p.Arg111fs No assertion criteria thrombocytopenia, anemia, and myelofibrosis
- p.Glu113Ter No assertion criteria thrombocytopenia, anemia, and myelofibrosis
Conflicting classifications of pathogenicity 1
- p.Pro173Gln Single submitter thrombocytopenia, anemia, and myelofibrosis ⚠
Benign 1
- p.Gly104= Single submitter
Benign/Likely benign 3
- p.Arg175Gly Multiple submitters
- p.Gly101= Multiple submitters
- p.Pro178Ser Multiple submitters
Likely benign 13
- c.542-9C>T Single submitter
- c.622-18C>T Single submitter
- p.Ala228Val Single submitter Inborn genetic diseases
- p.Asn18= Single submitter
- p.Gly133= Single submitter
- p.Gly133Arg Single submitter
- p.Leu154= Single submitter
- p.Leu183Val Single submitter
- p.Leu98= Single submitter
- p.Pro19= Single submitter
- p.Ser89= Single submitter
- p.Val31= Single submitter
- p.Pro62Gln No assertion criteria MPIG6B-related disorder
Uncertain significance 17
- c.542-9C>G Multiple submitters MPIG6B-related disorder
- p.Ala21Gly Multiple submitters thrombocythemia 2 ⚠
- p.Ala52Thr Multiple submitters thrombocytopenia, anemia, and myelofibrosis ⚠
- p.Arg83His Multiple submitters thrombocytopenia, anemia, and myelofibrosis ⚠
- c.542-13C>A Single submitter
- c.542-7C>G Single submitter
- p.Asn32His Single submitter
- p.Asp88Asn Single submitter ⚠
- p.Cys108Phe Single submitter thrombocytopenia, anemia, and myelofibrosis ⚠
- p.Leu203= Single submitter
- p.Lys193Asn Single submitter Inborn genetic diseases ⚠
- p.Pro141Thr Single submitter ⚠
- p.Pro191= Single submitter thrombocytopenia, anemia, and myelofibrosis
- p.Pro200Leu Single submitter ⚠
- p.Pro207= Single submitter thrombocytopenia
- p.Thr127Pro Single submitter ⚠
- p.Trp44Cys No assertion criteria Abnormal bleeding ⚠