MAGT1 — 269 ClinVar variants
All ClinVar germline MAGT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
26 Pathogenic · 16 Likely pathogenic · 9 Conflicting · 18 Benign · 9 Benign/Likely benign · 68 Likely benign · 123 Uncertain significance
Full MAGT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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.
-
MAGT1 p.Ala171Thr
Conflicting
Single submitter
Inborn genetic diseases
-
MAGT1 p.Leu285Phe
Conflicting
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Met210Val
Conflicting
Single submitter
congenital disorder of glycosylation, type ICC
-
MAGT1 p.Met294Val
Conflicting
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
MAGT1 c.992+1G>A
Conflicting
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Lys22fs
Conflicting
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Predictors lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAGT1 p.Met302Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAGT1 p.Pro52Ser
Uncertain significance
Multiple submitters
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Thr138Ile
Uncertain significance
Multiple submitters
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Val76Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAGT1 p.Ala109Thr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ala144Val
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ala197Asp
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ala222Val
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Ala229Thr Uncertain significance Single submitter
- MAGT1 p.Ala93Val Uncertain significance Single submitter
-
MAGT1 p.Arg168Trp
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Arg182Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGT1 p.Arg299Gln
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Arg62Cys
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asn134Ser
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asn255Ser
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asn57Ser
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asp120Tyr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asp175Glu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Asp59Asn Uncertain significance Single submitter
-
MAGT1 p.Cys287Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAGT1 p.Cys303Arg Uncertain significance Single submitter
- MAGT1 p.Glu96Lys Uncertain significance Single submitter
-
MAGT1 p.Gly146Glu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Gly188Val
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Gly241Glu Uncertain significance Single submitter
-
MAGT1 p.Gly277Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGT1 p.Gly282Arg
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Gly306Ala
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.His246Tyr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.His258Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGT1 p.His326Arg
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ile199Thr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ile320Val
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ile54Val
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ile75Thr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Leu195Phe
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Leu202Phe
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Leu202Pro
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Leu286Ser Uncertain significance Single submitter
- MAGT1 p.Lys60Glu Uncertain significance Single submitter
-
MAGT1 p.Met133Leu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Met283Ile
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Met302Ile
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Met317Ile
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Met317Val
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Met45Leu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Phe139Tyr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Pro242Leu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ser125Thr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ser208Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGT1 p.Ser232Tyr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ser260Arg
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Thr111Asn Uncertain significance Single submitter
-
MAGT1 p.Thr174Ala
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Trp236Cys
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Tyr204Cys
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Tyr204Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGT1 p.Val127Ile
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Val36Ala
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Val36Met
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Val89Ile
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asn177Ile
Uncertain significance
No assertion criteria
MAGT1-related disorder
- MAGT1 p.Met133Val Uncertain significance No assertion criteria
- MAGT1 p.Val279Gly Uncertain significance No assertion criteria
Predictors split 23
The independent predictors disagree with each other — read with care.
-
MAGT1 p.Asn215Ser
Uncertain significance
Multiple submitters
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Gly160Ser
Uncertain significance
Multiple submitters
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Gly200Val
Uncertain significance
Multiple submitters
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ile99Met
Uncertain significance
Multiple submitters
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Arg159Gln
Conflicting
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Arg159Trp Likely benign Single submitter
-
MAGT1 p.Arg62His
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asp172Asn
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Asp295Val
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Cys303Phe
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Gln129Glu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Gly124Ser Uncertain significance Single submitter
-
MAGT1 p.Gly252Glu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.His270Tyr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ile114Thr
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ile170Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAGT1 p.Ile199Phe
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Lys50Glu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Met133Ile
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Pro148Ser
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Pro69Leu
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
-
MAGT1 p.Ser38Pro
Uncertain significance
Single submitter
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- MAGT1 p.Arg207Ile Uncertain significance No assertion criteria
All MAGT1 variants
Pathogenic 26
- p.Arg105Ter Multiple submitters MAGT1-related disorder
- p.Arg206Ter Multiple submitters MAGT1-related disorder
- p.Arg299Ter Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser162fs Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.272+1G>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ala117fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Arg168fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Cys303Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gln165Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gln43Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Glu164Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gly252fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ile140fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Leu281Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Lys324Asn Single submitter congenital disorder of glycosylation
- p.Phe214fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Phe226fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Trp169Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Trp316Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Tyr154Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Tyr72Ter Single submitter
- p.Val203fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.826_826+9del No assertion criteria X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Trp236Ter No assertion criteria X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Tyr154fs No assertion criteria X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Val227fs No assertion criteria X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Likely pathogenic 16
- c.531+1G>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.532-2A>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.673-1G>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.762+1G>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.827-1_838del Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.902-1589_993-77del Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Asn276fs Single submitter MAGT1-related disorder
- p.Gln157fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Leu16fs Single submitter congenital disorder of glycosylation, type ICC
- p.Lys247Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Met133fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Phe139fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Thr280_Leu281insTer Single submitter MAGT1-related disorder
- p.Trp104Ter Single submitter MAGT1-related disorder
- p.Trp219Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gly124fs No assertion criteria X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Conflicting classifications of pathogenicity 9
- c.992+1G>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ala171Thr Single submitter Inborn genetic diseases ⚠
- p.Arg159Gln Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Arg20Trp Single submitter Inborn genetic diseases
- p.Ile257= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Leu285Phe Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Lys22fs Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met210Val Single submitter congenital disorder of glycosylation, type ICC ⚠
- p.Met294Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
Benign 18
- c.673-16T>C Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gln234= Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Thr217= Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.272+13A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.272+8C>T Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.273-18G>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.390+17A>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.390+6A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.672+280dup Single submitter
- c.827-16A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.901+18A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.902-135TAAAA[10] Single submitter
- c.902-135TAAAA[11] Single submitter
- c.902-135TAAAA[8] Single submitter
- c.902-135TAAAA[9] Single submitter
- c.902-171C>T Single submitter
- p.Leu192= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser24Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Benign/Likely benign 9
- c.103-17C>T Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.532-12C>G Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.763-14T>G Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ile114= Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Leu64= Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Pro69= Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Thr15Ile Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Val23Ile Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Val311Gly Multiple submitters congenital disorder of glycosylation, type ICC
Likely benign 68
- c.273-5T>C Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.390+123A>G Multiple submitters
- c.391-12G>A Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.762+16G>A Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.992+45G>A Multiple submitters
- p.Phe142= Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.103-10T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.103-16A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.103-19C>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.272+11C>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.272+17C>T Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.272+18G>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.273-18G>T Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.273-9T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.391-10T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.391-12G>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.391-15C>T Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.531+16A>T Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.531+17T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.531+20A>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.532-20T>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.532-5A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.532-6C>T Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.672+19A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.673-10T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.762+11T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.763-18_763-17del Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.826+18G>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.827-13C>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.827-7T>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.901+11T>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.901+12T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.901+15T>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.901+8A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.902-135TAAAA[13] Single submitter
- c.902-135TAAAA[14] Single submitter
- c.902-14T>A Single submitter
- c.*17del Single submitter
- p.Ala171= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ala290= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ala93= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Arg150Gln Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Arg159Trp Single submitter ⚠
- p.Arg168Gln Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Arg17= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Arg20= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Asn177Ser Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Cys9= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gln129= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Glu211= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gly124= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gly160= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gly252= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gly277= Single submitter
- p.His326= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ile170= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ile296= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ile75= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Leu10= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Pro137= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser135= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser315= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser73= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Thr251= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Tyr154= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Tyr72= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Val272= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Val74Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Uncertain significance 123
- c.992+3A>G Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Asn215Ser Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gly160Ser Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gly200Val Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gly4Asp Multiple submitters MAGT1-related disorder
- p.Ile99Met Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met302Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe11Val Multiple submitters Inborn genetic diseases
- p.Pro18Ser Multiple submitters Inborn genetic diseases
- p.Pro52Ser Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Thr138Ile Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Val311del Multiple submitters X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Val76Ile Multiple submitters Inborn genetic diseases ⚠
- c.672+5G>A Single submitter MAGT1-related disorder
- c.763-10T>A Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.826+16A>C Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.826+6C>T Single submitter
- c.827-11A>G Single submitter
- c.827-14A>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.902-6C>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- c.-14G>T Single submitter
- c.-24C>G Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ala109Thr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ala144Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ala197Asp Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ala222Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ala229Thr Single submitter ⚠
- p.Ala290Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ala93Val Single submitter ⚠
- p.Arg168Trp Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Arg182Ile Single submitter Inborn genetic diseases ⚠
- p.Arg20Gln Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Arg20Gly Single submitter
- p.Arg299Gln Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Arg62Cys Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Arg62His Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Arg63Cys Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Asn134Ser Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Asn255Ser Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Asn57Ser Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Asp120Tyr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Asp172Asn Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Asp175Glu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Asp295Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Asp59Asn Single submitter ⚠
- p.Cys287Ser Single submitter Inborn genetic diseases ⚠
- p.Cys303Arg Single submitter ⚠
- p.Cys303Phe Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Cys9Tyr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Gln129Glu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gln86Arg Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Glu96del Single submitter
- p.Glu96Lys Single submitter ⚠
- p.Gly124Ser Single submitter ⚠
- p.Gly146Glu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gly188Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gly241Glu Single submitter ⚠
- p.Gly252Glu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gly277Ser Single submitter Inborn genetic diseases ⚠
- p.Gly282Arg Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Gly306Ala Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.His246Tyr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.His258Tyr Single submitter Inborn genetic diseases ⚠
- p.His270Tyr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.His326Arg Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ile114Thr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ile170Leu Single submitter Inborn genetic diseases ⚠
- p.Ile199Phe Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ile199Thr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ile320Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ile54Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ile75Thr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ile8Phe Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Leu195Phe Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Leu202Phe Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Leu202Pro Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Leu286Ser Single submitter ⚠
- p.Lys22Gln Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Lys50Glu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Lys5Asn Single submitter Inborn genetic diseases
- p.Lys60Glu Single submitter ⚠
- p.Met133Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met133Leu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met1Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Met283Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met302Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met317Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met317Val Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Met45Leu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Phe139Tyr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Phe275= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Pro148Ser Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Pro14Ser Single submitter Inborn genetic diseases
- p.Pro18Thr Single submitter
- p.Pro242Leu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Pro69Leu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Pro7Leu Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Pro7Ser Single submitter
- p.Ser125Thr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ser12Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser19Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser208Asn Single submitter Inborn genetic diseases ⚠
- p.Ser232Tyr Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ser260= Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Ser260Arg Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Ser38Pro Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Thr111Asn Single submitter ⚠
- p.Thr15= Single submitter
- p.Thr174Ala Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Thr251Met Single submitter congenital disorder of glycosylation, type ICC
- p.Trp236Cys Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Tyr106Ter Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- p.Tyr204Cys Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Tyr204Ser Single submitter Inborn genetic diseases ⚠
- p.Val127Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Val36Ala Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Val36Met Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- p.Val89Ile Single submitter X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ⚠
- c.826+1G>A No assertion criteria Developmental disorder
- p.Arg207Ile No assertion criteria ⚠
- p.Asn177Ile No assertion criteria MAGT1-related disorder ⚠
- p.Met133Val No assertion criteria ⚠
- p.Val279Gly No assertion criteria ⚠