DPM2 — 124 ClinVar variants
All ClinVar germline DPM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Conflicting · 5 Benign · 4 Benign/Likely benign · 49 Likely benign · 56 Uncertain significance
Full DPM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DPM2 p.Ala52Thr
Uncertain significance
Multiple submitters
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Leu30Val
Uncertain significance
Multiple submitters
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Leu62Val
Uncertain significance
Multiple submitters
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Val51Ile
Uncertain significance
Multiple submitters
congenital muscular dystrophy with intellectual disability and severe epilepsy
- DPM2 p.Ala15Val Uncertain significance Single submitter
- DPM2 p.Ala56Ser Uncertain significance Single submitter
- DPM2 p.Ala56Val Uncertain significance Single submitter
-
DPM2 p.Asp6Asn
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Gly12Asp
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Ile34Val
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Lys42Glu
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
- DPM2 p.Lys42Thr Uncertain significance Single submitter
-
DPM2 p.Ser36Asn
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Ser70Ala
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Thr22Ile
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Thr25Ser
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
- DPM2 p.Thr76Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
-
DPM2 p.Tyr43His
Uncertain significance
Multiple submitters
congenital muscular dystrophy with intellectual disability and severe epilepsy
- DPM2 p.Asp35Asn Uncertain significance Single submitter
-
DPM2 p.Lys77Glu
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Ser70Pro
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Thr3Met
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Tyr49Asn
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Tyr49Cys
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
-
DPM2 p.Tyr71Cys
Uncertain significance
Single submitter
congenital muscular dystrophy with intellectual disability and severe epilepsy
All DPM2 variants
Pathogenic 7
- p.Gln37Ter Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Gly10fs Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Leu13fs Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Tyr49Ter Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.4-1G>C No assertion criteria congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Gly58Asp No assertion criteria congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Tyr23Cys No assertion criteria congenital muscular dystrophy with intellectual disability and severe epilepsy
Pathogenic/Likely pathogenic 1
- p.Arg47Ter Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
Likely pathogenic 1
- p.Gly66Glu Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
Conflicting classifications of pathogenicity 1
- c.197-5C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
Benign 5
- c.4-115C>T Multiple submitters
- c.-152A>G Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-628A>G Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Thr76Ser Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Tyr71= Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
Benign/Likely benign 4
- c.3+12A>G Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Leu59= Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Leu61= Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Thr22Ala Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
Likely benign 49
- c.196+191C>G Multiple submitters
- c.94-8G>T Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-382C>T Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.196+102C>T Single submitter
- c.196+12C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.196+13C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.196+18C>G Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.196+19C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.196+20C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.197-11G>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.197-9_197-8insA Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+12A>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+13C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+14C>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+14C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+15G>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+16T>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+99C>G Single submitter
- c.4-18G>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.4-5T>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.93+13C>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.93+14C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.93+17G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.93+17G>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.93+60C>G Single submitter
- c.94-11C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.94-14del Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.94-18C>G Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.94-19G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.94-19G>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.94-19G>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.94-47C>T Single submitter
- c.94-4C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.94-9C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-11C>G Single submitter
- c.-11C>T Single submitter
- p.Ala48= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Gln84= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.His38= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Ile34= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Ile40= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Leu11= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Leu13= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Leu60= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Phe68= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Thr22= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Val51= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Val79= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Val9= Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
Uncertain significance 56
- p.Ala52Thr Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Ala56Phe Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Leu30Val Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Leu62Val Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Tyr43His Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Val51Ile Multiple submitters congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- c.3+3G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+3G>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.3+6A>G Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.93+5G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-141G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-208G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-211T>G Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-267T>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-319G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-429G>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-4G>A Single submitter
- c.-523C>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-587C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-5G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-612G>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-84G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.-88C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*124G>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*14A>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*231C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*404C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*49G>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*510A>G Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*529G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*553G>A Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*627C>T Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- c.*632T>C Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Ala15Val Single submitter ⚠
- p.Ala56Ser Single submitter ⚠
- p.Ala56Val Single submitter ⚠
- p.Arg47fs Single submitter
- p.Asp35Asn Single submitter ⚠
- p.Asp6Asn Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Gln37fs Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy
- p.Gly12Asp Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Ile34Val Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Lys42Glu Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Lys42Thr Single submitter ⚠
- p.Lys77Glu Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Ser36Asn Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Ser70Ala Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Ser70Pro Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Thr22Ile Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Thr25Ser Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Thr3Met Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Thr76Ala Single submitter ⚠
- p.Tyr49Asn Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Tyr49Cys Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Tyr71Cys Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy ⚠
- p.Val72Met Single submitter congenital muscular dystrophy with intellectual disability and severe epilepsy