MDM2 — 160 ClinVar variants
All ClinVar germline MDM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
1 Likely pathogenic · 2 Conflicting · 7 Benign · 56 Likely benign · 94 Uncertain significance
Full MDM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MDM2 p.Leu144Pro
Conflicting
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser182Pro
Conflicting
Single submitter
Accelerated tumor formation, susceptibility to
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MDM2 p.Ala289Thr
Uncertain significance
Multiple submitters
lessel-kubisch syndrome
-
MDM2 p.Arg332His
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asn117Ser
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asn374Ser
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Gln414Leu
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Gly341Glu
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser122Leu
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser397Asn
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Tyr411Cys
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ala232Ser
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Arg187Thr
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Arg209Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Arg215Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Arg327Thr
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Arg71Gln
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asn334Lys
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asn384Ser
Uncertain significance
Single submitter
lessel-kubisch syndrome
-
MDM2 p.Asp140Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asp179Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asp200Asn
Uncertain significance
Single submitter
lessel-kubisch syndrome
-
MDM2 p.Asp261Asn
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asp52His
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Cys133Tyr
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Cys368Tyr
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Gln141Glu
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Gln272Arg
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Gln358Pro Uncertain significance Single submitter
-
MDM2 p.Glu333Asp
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Glu421Lys Uncertain significance Single submitter
- MDM2 p.Glu423Gln Uncertain significance Single submitter
-
MDM2 p.Glu430Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ile195Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Ile211Leu Uncertain significance Single submitter
-
MDM2 p.Ile211Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ile25Thr
Uncertain significance
Single submitter
lessel-kubisch syndrome
-
MDM2 p.Ile347Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ile372Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Leu148Pro
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Leu197Phe
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Leu205Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Leu274Pro Uncertain significance Single submitter
-
MDM2 p.Leu305Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Leu321Phe
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Leu331Arg
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Leu60Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Lys344Glu
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Lys387Asn
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Pro228Leu
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Pro319Thr
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Pro437Ser
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Ser178Leu Uncertain significance Single submitter
-
MDM2 p.Ser407Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Thr126Ile
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Thr357Lys Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
-
MDM2 p.Glu273Ala
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Thr469Ser
Uncertain significance
Multiple submitters
Accelerated tumor formation, susceptibility to
-
MDM2 p.Arg189Cys
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Arg189His
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asn384Tyr
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Asp300Val
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Asp307Asn Uncertain significance Single submitter
-
MDM2 p.Gln414His
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Glu101Gln Uncertain significance Single submitter
-
MDM2 p.Glu316Asp
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Glu354Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Glu360Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Glu383Ala
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.His102Arg
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.His190Tyr Uncertain significance Single submitter
-
MDM2 p.His324Leu
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Leu135Phe
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Lys76Gln
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser129Arg
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser194Arg
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser218Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser296Ala
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser304Pro
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser397Arg
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser401Cys
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser401Phe
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser413Gly
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser434Cys
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Ser435Asn
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
-
MDM2 p.Tyr62Phe
Uncertain significance
Single submitter
Accelerated tumor formation, susceptibility to
- MDM2 p.Val59Ile Uncertain significance Single submitter
All MDM2 variants
Likely pathogenic 1
- p.Ter498Gln Single submitter Accelerated tumor formation, susceptibility to
Conflicting classifications of pathogenicity 2
- p.Leu144Pro Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser182Pro Single submitter Accelerated tumor formation, susceptibility to ⚠
Benign 7
- c.100-10C>A Multiple submitters Accelerated tumor formation, susceptibility to
- c.-94A>G Multiple submitters Accelerated tumor formation, susceptibility to
- p.Glu360= Multiple submitters Accelerated tumor formation, susceptibility to
- p.Leu203= Multiple submitters Accelerated tumor formation, susceptibility to
- c.685-3del Single submitter Accelerated tumor formation, susceptibility to
- c.840+14del Single submitter Accelerated tumor formation, susceptibility to
- c.918+15A>T Single submitter Accelerated tumor formation, susceptibility to
Likely benign 56
- p.Cys455= Multiple submitters Accelerated tumor formation, susceptibility to
- c.100-5T>G Single submitter Accelerated tumor formation, susceptibility to
- c.175-13A>G Single submitter Accelerated tumor formation, susceptibility to
- c.175-15A>T Single submitter Accelerated tumor formation, susceptibility to
- c.175-18A>G Single submitter Accelerated tumor formation, susceptibility to
- c.175-7A>G Single submitter Accelerated tumor formation, susceptibility to
- c.309-5A>C Single submitter Accelerated tumor formation, susceptibility to
- c.309-5A>G Single submitter Accelerated tumor formation, susceptibility to
- c.358+10T>G Single submitter Accelerated tumor formation, susceptibility to
- c.359-15T>C Single submitter Accelerated tumor formation, susceptibility to
- c.359-4T>G Single submitter Accelerated tumor formation, susceptibility to
- c.359-8TC[2] Single submitter Accelerated tumor formation, susceptibility to
- c.524-18T>G Single submitter Accelerated tumor formation, susceptibility to
- c.524-20T>C Single submitter Accelerated tumor formation, susceptibility to
- c.524-3C>T Single submitter Accelerated tumor formation, susceptibility to
- c.524-8A>G Single submitter Accelerated tumor formation, susceptibility to
- c.684+19G>A Single submitter Accelerated tumor formation, susceptibility to
- c.684+20T>C Single submitter Accelerated tumor formation, susceptibility to
- c.685-18A>T Single submitter Accelerated tumor formation, susceptibility to
- c.685-20A>T Single submitter Accelerated tumor formation, susceptibility to
- c.840+14T>C Single submitter Accelerated tumor formation, susceptibility to
- c.840+6dup Single submitter Accelerated tumor formation, susceptibility to
- c.841-16G>T Single submitter Accelerated tumor formation, susceptibility to
- c.918+10C>T Single submitter Accelerated tumor formation, susceptibility to
- c.919-11T>C Single submitter Accelerated tumor formation, susceptibility to
- p.Asn131= Single submitter Accelerated tumor formation, susceptibility to
- p.Asn334= Single submitter Accelerated tumor formation, susceptibility to
- p.Asp261= Single submitter Accelerated tumor formation, susceptibility to
- p.Asp264= Single submitter Accelerated tumor formation, susceptibility to
- p.Asp416= Single submitter Accelerated tumor formation, susceptibility to
- p.Asp52= Single submitter Accelerated tumor formation, susceptibility to
- p.Gln149= Single submitter Accelerated tumor formation, susceptibility to
- p.Gln272= Single submitter Accelerated tumor formation, susceptibility to
- p.Gln288= Single submitter Accelerated tumor formation, susceptibility to
- p.Gln393= Single submitter Accelerated tumor formation, susceptibility to
- p.Gln78= Single submitter Accelerated tumor formation, susceptibility to
- p.Glu150= Single submitter Accelerated tumor formation, susceptibility to
- p.Gly93= Single submitter Accelerated tumor formation, susceptibility to
- p.Ile456= Single submitter Accelerated tumor formation, susceptibility to
- p.Leu205= Single submitter Accelerated tumor formation, susceptibility to
- p.Leu242= Single submitter Accelerated tumor formation, susceptibility to
- p.Leu260= Single submitter Accelerated tumor formation, susceptibility to
- p.Leu88= Single submitter Accelerated tumor formation, susceptibility to
- p.Pro320= Single submitter Accelerated tumor formation, susceptibility to
- p.Pro337= Single submitter Accelerated tumor formation, susceptibility to
- p.Pro38= Single submitter Accelerated tumor formation, susceptibility to
- p.Pro497= Single submitter Accelerated tumor formation, susceptibility to
- p.Ser122= Single submitter Accelerated tumor formation, susceptibility to
- p.Ser124= Single submitter Accelerated tumor formation, susceptibility to
- p.Ser259= Single submitter Accelerated tumor formation, susceptibility to
- p.Thr126= Single submitter Accelerated tumor formation, susceptibility to
- p.Thr224= Single submitter Accelerated tumor formation, susceptibility to
- p.Tyr495= Single submitter Accelerated tumor formation, susceptibility to
- p.Tyr54= Single submitter Accelerated tumor formation, susceptibility to
- p.Val286= Single submitter Accelerated tumor formation, susceptibility to
- p.Val81= Single submitter Accelerated tumor formation, susceptibility to
Uncertain significance 94
- c.523+5A>G Multiple submitters Accelerated tumor formation, susceptibility to
- p.Ala289Thr Multiple submitters lessel-kubisch syndrome ⚠
- p.Arg332His Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Asn117Ser Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Asn374Ser Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Gln414Leu Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Glu273Ala Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Gly341Glu Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Ser122Leu Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Ser397Asn Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Thr469Ser Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- p.Tyr411Cys Multiple submitters Accelerated tumor formation, susceptibility to ⚠
- c.174+18A>G Single submitter Accelerated tumor formation, susceptibility to
- c.524-2A>G Single submitter Accelerated tumor formation, susceptibility to
- p.Ala232Ser Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ala306= Single submitter Accelerated tumor formation, susceptibility to
- p.Arg103= Single submitter Accelerated tumor formation, susceptibility to
- p.Arg187Thr Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Arg189Cys Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Arg189His Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Arg209Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Arg215Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Arg327Thr Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Arg71Gln Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Asn334Lys Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Asn384Ser Single submitter lessel-kubisch syndrome ⚠
- p.Asn384Tyr Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Asp140Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Asp179Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Asp200Asn Single submitter lessel-kubisch syndrome ⚠
- p.Asp261Asn Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Asp300Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Asp307Asn Single submitter ⚠
- p.Asp52His Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Cys133Tyr Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Cys368Tyr Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Gln141Glu Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Gln272Arg Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Gln358Pro Single submitter ⚠
- p.Gln414His Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Glu101Gln Single submitter ⚠
- p.Glu316Asp Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Glu333Asp Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Glu354Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Glu360Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Glu383Ala Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu423Gln Single submitter ⚠
- p.Glu429fs Single submitter Accelerated tumor formation, susceptibility to
- p.Glu430Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Gly233del Single submitter Accelerated tumor formation, susceptibility to
- p.His102Arg Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.His190Tyr Single submitter ⚠
- p.His324Leu Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ile195Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ile211Leu Single submitter ⚠
- p.Ile211Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ile25Thr Single submitter lessel-kubisch syndrome ⚠
- p.Ile347Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ile372Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu135Phe Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu148Pro Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu197Phe Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu205Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu274Pro Single submitter ⚠
- p.Leu305Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu321Phe Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu331Arg Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Leu60Val Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Lys344Glu Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Lys387Asn Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Lys76Gln Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Pro228Leu Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Pro319Thr Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Pro437Ser Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Pro482= Single submitter Accelerated tumor formation, susceptibility to
- p.Ser129Arg Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser178Leu Single submitter ⚠
- p.Ser194Arg Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser218Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser296Ala Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser304Pro Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser397Arg Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser401Cys Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser401Phe Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser407Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser413Gly Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser434Cys Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Ser435Asn Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Thr126Ile Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Thr357Lys Single submitter ⚠
- p.Tyr62Phe Single submitter Accelerated tumor formation, susceptibility to ⚠
- p.Val286fs Single submitter
- p.Val59Ile Single submitter ⚠