MAGED2 — 182 ClinVar variants
All ClinVar germline MAGED2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
10 Pathogenic · 10 Likely pathogenic · 5 Conflicting · 38 Benign · 5 Benign/Likely benign · 35 Likely benign · 79 Uncertain significance
Full MAGED2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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.
-
MAGED2 p.Arg502Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MAGED2 p.Ile404Met
Conflicting
Single submitter
Inborn genetic diseases
-
MAGED2 p.Pro43Leu
Conflicting
Single submitter
Inborn genetic diseases
-
MAGED2 p.Thr553Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAGED2 p.Ala389Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAGED2 p.Ala97Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAGED2 p.Arg257His Uncertain significance Multiple submitters
-
MAGED2 p.Pro153Ser
Uncertain significance
Multiple submitters
Bartter disease type 5
-
MAGED2 p.Pro436Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAGED2 p.Ala115Pro Uncertain significance Single submitter
-
MAGED2 p.Ala115Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Ala150Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Ala196Val Uncertain significance Single submitter
-
MAGED2 p.Ala235Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Ala472Thr Uncertain significance Single submitter
- MAGED2 p.Ala485Ser Uncertain significance Single submitter
- MAGED2 p.Ala497Val Uncertain significance Single submitter
- MAGED2 p.Ala539Thr Uncertain significance Single submitter
- MAGED2 p.Ala563Thr Uncertain significance Single submitter
-
MAGED2 p.Ala573Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Ala585Ser Uncertain significance Single submitter
-
MAGED2 p.Ala590Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Ala75Gly Uncertain significance Single submitter
-
MAGED2 p.Arg169Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Arg227His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Arg231Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Arg239Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Arg251His Uncertain significance Single submitter
- MAGED2 p.Arg257Cys Uncertain significance Single submitter
-
MAGED2 p.Arg274Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Arg446His
Uncertain significance
Single submitter
Bartter disease type 5
-
MAGED2 p.Asn135Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Asn433Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Asn557Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Gln88Glu Uncertain significance Single submitter
-
MAGED2 p.Glu187Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Glu6Lys Uncertain significance Single submitter
-
MAGED2 p.Gly410Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Gly572Cys Uncertain significance Single submitter
-
MAGED2 p.Gly8Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.His405Gln Uncertain significance Single submitter
- MAGED2 p.Leu31Ser Uncertain significance Single submitter
-
MAGED2 p.Leu507Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Lys175Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Lys21Glu Uncertain significance Single submitter
-
MAGED2 p.Lys261Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Lys413Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Pro271Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Ser190Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Ser206Pro Uncertain significance Single submitter
-
MAGED2 p.Ser5Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Ser7Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Ser84Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Thr362Met Uncertain significance Single submitter
-
MAGED2 p.Thr555Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Thr87Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Val126Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Val205Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Thr132Ile
Uncertain significance
No assertion criteria
MAGED2-related disorder
Predictors split 7
The independent predictors disagree with each other — read with care.
-
MAGED2 p.Arg215Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGED2 p.Arg323Gln
Uncertain significance
Single submitter
Bartter disease type 5
-
MAGED2 p.Gly506Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Lys455Glu Uncertain significance Single submitter
-
MAGED2 p.Met210Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGED2 p.Thr451Asn Uncertain significance Single submitter
- MAGED2 p.Val374Met Uncertain significance Single submitter
All MAGED2 variants
Pathogenic 10
- c.1085_1085+12del Single submitter
- p.Arg178Ter Single submitter Renal tubulopathies
- p.Gln161Ter Single submitter
- p.Gln88Ter Single submitter Bartter disease type 5
- p.Trp443Ter Single submitter Bartter disease type 5
- c.1271+4_1271+7del No assertion criteria Bartter disease type 5
- c.991-2A>G No assertion criteria Bartter disease type 5
- p.Lys133Ter No assertion criteria Bartter disease type 5
- p.Tyr346Ter No assertion criteria Bartter disease type 5
- p.Val129fs No assertion criteria Bartter disease type 5
Likely pathogenic 10
- c.1271+1G>A Single submitter
- c.1386+1G>A Single submitter Bartter disease type 5
- c.990+1G>A Single submitter
- p.486AAEA[1] Single submitter Bartter disease type 5
- p.Arg203Ter Single submitter MAGED2-related disorder
- p.Arg446Cys Single submitter Bartter disease type 5
- p.Arg476Ter Single submitter
- p.Pro113fs Single submitter Bartter disease type 5
- p.Tyr449Ter Single submitter Bartter disease type 5
- p.Gln335fs No assertion criteria Hypotonia
Conflicting classifications of pathogenicity 5
- p.Arg502Gln Single submitter Inborn genetic diseases ⚠
- p.Glu312Ter Single submitter MAGED2-related disorder
- p.Ile404Met Single submitter Inborn genetic diseases ⚠
- p.Pro43Leu Single submitter Inborn genetic diseases ⚠
- p.Thr553Ser Single submitter Inborn genetic diseases ⚠
Benign 38
- c.1085+101A>G Multiple submitters
- c.1166-46C>A Multiple submitters
- c.1208+122G>C Multiple submitters
- c.1271+181G>C Multiple submitters
- c.1271+30C>T Multiple submitters
- c.847-56G>A Multiple submitters
- c.991-153G>A Multiple submitters
- c.991-171C>A Multiple submitters
- c.991-238C>A Multiple submitters
- p.Ala208= Multiple submitters Bartter disease type 5
- p.Ala481= Multiple submitters
- p.Glu187Asp Multiple submitters
- p.Ser327= Multiple submitters Bartter disease type 5
- p.Ser84= Multiple submitters Bartter disease type 5
- p.Thr132= Multiple submitters Bartter disease type 5
- c.1086-282_1086-277del Single submitter
- c.1086-287A>G Single submitter
- c.1165+17G>T Single submitter
- c.1387-113_1387-112insA Single submitter
- c.1387-170C>A Single submitter
- c.1387-224G>A Single submitter
- c.910+15A>G Single submitter
- c.910+18C>G Single submitter
- c.911-9C>A Single submitter
- p.Ala160= Single submitter
- p.Ala513= Single submitter
- p.Ala577Thr Single submitter
- p.Asp411= Single submitter
- p.Asp519= Single submitter
- p.Gln114Arg Single submitter
- p.Glu156= Single submitter
- p.Gly185Ala Single submitter
- p.Ile379= Single submitter
- p.Leu507= Single submitter
- p.Lys397= Single submitter
- p.Ser303= Single submitter
- p.Thr576= Single submitter
- p.Val69= Single submitter
Benign/Likely benign 5
- p.Ala75= Multiple submitters
- p.Glu477= Multiple submitters
- p.Lys44Glu Multiple submitters
- p.Pro272= Multiple submitters Bartter disease type 5
- p.Thr296Met Multiple submitters Inborn genetic diseases
Likely benign 35
- c.-29-50G>T Multiple submitters
- c.*9-36A>G Multiple submitters
- p.Ala561= Multiple submitters
- c.1086-18G>A Single submitter
- c.1166-5C>T Single submitter
- c.1208+33G>A Single submitter
- c.1272-175C>T Single submitter
- c.1272-19T>C Single submitter
- c.1387-20G>C Single submitter
- c.846+17T>G Single submitter
- p.Ala241= Single submitter
- p.Ala585= Single submitter
- p.Arg233= Single submitter
- p.Arg256His Single submitter Inborn genetic diseases
- p.Arg385= Single submitter
- p.Asn284= Single submitter
- p.Asp112= Single submitter
- p.Asp151= Single submitter
- p.Gln542= Single submitter
- p.Glu329= Single submitter
- p.Glu68= Single submitter
- p.Gly253= Single submitter
- p.Gly588Ser Single submitter Inborn genetic diseases
- p.Leu375= Single submitter
- p.Lys125= Single submitter
- p.Lys413= Single submitter
- p.Pro113Leu Single submitter
- p.Pro318= Single submitter
- p.Pro436= Single submitter
- p.Ser101= Single submitter
- p.Ser162Ala Single submitter Inborn genetic diseases
- p.Thr72= Single submitter
- p.Val412= Single submitter
- p.Val431= Single submitter
- p.Ala211= No assertion criteria MAGED2-related disorder
Uncertain significance 79
- p.Ala389Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala97Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg257His Multiple submitters ⚠
- p.Pro153Ser Multiple submitters Bartter disease type 5 ⚠
- p.Pro436Ser Multiple submitters Inborn genetic diseases ⚠
- c.1166-2A>G Single submitter
- c.1208+16C>T Single submitter
- c.1208+96G>A Single submitter Bartter disease type 5
- c.1209-3C>T Single submitter
- c.1272-15A>C Single submitter
- c.1272-9C>G Single submitter
- c.1387-20G>A Single submitter
- c.991-6C>T Single submitter Inborn genetic diseases
- p.559AS[2] Single submitter
- p.Ala115Pro Single submitter ⚠
- p.Ala115Val Single submitter Inborn genetic diseases ⚠
- p.Ala150Glu Single submitter Inborn genetic diseases ⚠
- p.Ala196Val Single submitter ⚠
- p.Ala208fs Single submitter
- p.Ala235Thr Single submitter Inborn genetic diseases ⚠
- p.Ala472Thr Single submitter ⚠
- p.Ala485Ser Single submitter ⚠
- p.Ala497Val Single submitter ⚠
- p.Ala539Thr Single submitter ⚠
- p.Ala563Thr Single submitter ⚠
- p.Ala573Val Single submitter Inborn genetic diseases ⚠
- p.Ala585Ser Single submitter ⚠
- p.Ala590Thr Single submitter Inborn genetic diseases ⚠
- p.Ala75Gly Single submitter ⚠
- p.Arg169Gln Single submitter Inborn genetic diseases ⚠
- p.Arg215Cys Single submitter Inborn genetic diseases ⚠
- p.Arg227His Single submitter Inborn genetic diseases ⚠
- p.Arg231Lys Single submitter Inborn genetic diseases ⚠
- p.Arg239Trp Single submitter Inborn genetic diseases ⚠
- p.Arg251His Single submitter ⚠
- p.Arg257Cys Single submitter ⚠
- p.Arg274Gln Single submitter Inborn genetic diseases ⚠
- p.Arg323Gln Single submitter Bartter disease type 5 ⚠
- p.Arg446His Single submitter Bartter disease type 5 ⚠
- p.Asn135Ser Single submitter Inborn genetic diseases ⚠
- p.Asn433Ser Single submitter Inborn genetic diseases ⚠
- p.Asn557Ser Single submitter Inborn genetic diseases ⚠
- p.Asp294= Single submitter
- p.Gln88Glu Single submitter ⚠
- p.Glu187Val Single submitter Inborn genetic diseases ⚠
- p.Glu6Lys Single submitter ⚠
- p.Gly410Glu Single submitter Inborn genetic diseases ⚠
- p.Gly506Arg Single submitter Inborn genetic diseases ⚠
- p.Gly572Cys Single submitter ⚠
- p.Gly8Asp Single submitter Inborn genetic diseases ⚠
- p.His405Gln Single submitter ⚠
- p.Leu31Ser Single submitter ⚠
- p.Leu426fs Single submitter
- p.Leu507Phe Single submitter Inborn genetic diseases ⚠
- p.Lys175Glu Single submitter Inborn genetic diseases ⚠
- p.Lys21Glu Single submitter ⚠
- p.Lys261Thr Single submitter Inborn genetic diseases ⚠
- p.Lys330= Single submitter Bartter disease type 5
- p.Lys413Arg Single submitter Inborn genetic diseases ⚠
- p.Lys455Glu Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met210Thr Single submitter Inborn genetic diseases ⚠
- p.Pro271Gln Single submitter Inborn genetic diseases ⚠
- p.Ser190Thr Single submitter Inborn genetic diseases ⚠
- p.Ser206Pro Single submitter ⚠
- p.Ser554= Single submitter
- p.Ser5Arg Single submitter Inborn genetic diseases ⚠
- p.Ser7Asn Single submitter Inborn genetic diseases ⚠
- p.Ser84Leu Single submitter Inborn genetic diseases ⚠
- p.Thr106_Asp112del Single submitter
- p.Thr362Met Single submitter ⚠
- p.Thr451Asn Single submitter ⚠
- p.Thr555Ala Single submitter Inborn genetic diseases ⚠
- p.Thr87Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr475Ter Single submitter Bartter disease type 5
- p.Val126Asp Single submitter Inborn genetic diseases ⚠
- p.Val205Ile Single submitter Inborn genetic diseases ⚠
- p.Val374Met Single submitter ⚠
- p.Thr132Ile No assertion criteria MAGED2-related disorder ⚠