Full data view for gene MAGT1

Information The variants shown are described using the transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3i_8i c.(?_c.487-1)_(997+1_?)del r.? p.? Maternal (confirmed) ACMG pathogenic g.(?_77096742)_(77112995_?)del - del ex4-8, hg19 (77096742-77112995)x0 - MAGT1_000033 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat28,1 PubMed: Stray-Pedersen 2017 3-generation family, 2 affected (boy/uncle-28.4), unaffected heterozygous carrier mother M - Norway - - - - - 2 Johan den Dunnen
?/. - c.-4093G>A r.(?) p.(=) Unknown - VUS g.77155096C>T g.77899599C>T COX7B(NM_001866.2):c.40+6C>T (p.(=)) - COX7B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4066T>G r.(?) p.(=) Unknown - likely benign g.77155069A>C - COX7B(NM_001866.3):c.19A>C (p.S7R) - MAGT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3G>A r.(?) p.(Met1?) Unknown - VUS g.77151001C>T - MAGT1(NM_032121.5):c.3G>A (p.M1?) - MAGT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19C>T r.(?) p.(Pro7Ser) Unknown - likely benign g.77150985G>A g.77895488G>A MAGT1(NM_032121.5):c.19C>T (p.P7S) - MAGT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21G>T r.(?) p.(Pro7=) Unknown - likely benign g.77150983C>A - MAGT1(NM_032121.5):c.21G>T (p.P7=) - MAGT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31T>G r.(?) p.(Phe11Val) Unknown - VUS g.77150973A>C - MAGT1(NM_032121.5):c.31T>G (p.F11V) - MAGT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65_66del r.(?) p.(Lys22SerfsTer49) Unknown - VUS g.77150939_77150940del g.77895442_77895443del MAGT1(NM_032121.5):c.65_66delAA (p.K22Sfs*49) - MAGT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Val23Ile) Unknown - likely benign g.77150937C>T g.77895440C>T MAGT1(NM_032121.5):c.67G>A (p.V23I, p.(Val23Ile)) - MAGT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>A r.(?) p.(Val23Ile) Unknown - VUS g.77150937C>T g.77895440C>T MAGT1(NM_032121.5):c.67G>A (p.V23I, p.(Val23Ile)) - MAGT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71C>G r.(?) p.(Ser24Ter) Unknown - VUS g.77150933G>C g.77895436G>C - - MAGT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77T>C r.(?) p.(Ile26Thr) Unknown - likely benign g.77150927A>G - MAGT1(NM_032121.5):c.77T>C (p.I26T) - MAGT1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92C>T r.(?) p.(Ala31Val) Unknown - likely benign g.77150912G>A g.77895415G>A MAGT1(NM_032121.5):c.92C>T (p.(Ala31Val)) - MAGT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112C>T r.(?) p.(Arg38Trp) Unknown - VUS g.77150892G>A g.77895395G>A MAGT1(NM_032121.5):c.112C>T (p.R38W, p.(Arg38Trp)) - MAGT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112C>T r.(?) p.(Arg38Trp) Unknown - likely benign g.77150892G>A g.77895395G>A MAGT1(NM_032121.5):c.112C>T (p.R38W, p.(Arg38Trp)) - MAGT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.136A>G r.(?) p.(Met46Val) Unknown - likely benign g.77150868T>C g.77895371T>C MAGT1(NM_032121.5):c.136A>G (p.M46V) - MAGT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199-10T>C r.(=) p.(=) Unknown - likely benign g.77131104A>G - MAGT1(NM_032121.5):c.199-10T>C - MAGT1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281G>A r.(?) p.(Arg94His) Unknown - VUS g.77131012C>T g.77875515C>T MAGT1(NM_032121.5):c.281G>A (p.R94H) - MAGT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312C>T r.(?) p.(Tyr104=) Unknown - likely benign g.77130981G>A g.77875484G>A MAGT1(NM_032121.5):c.312C>T (p.Y104=) - MAGT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.369-18G>A r.(=) p.(=) Unknown - likely benign g.77126440C>T g.77870943C>T MAGT1(NM_032121.5):c.369-18G>A - MAGT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.369-5T>C r.spl? p.? Unknown - likely benign g.77126427A>G - MAGT1(NM_001367916.1):c.273-5T>C - MAGT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396G>A r.(?) p.(Leu132=) Unknown - likely benign g.77126395C>T - MAGT1(NM_032121.5):c.396G>A (p.L132=) - MAGT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.429dup r.(?) p.(Asn144GlnfsTer11) Unknown - pathogenic g.77126363dup g.77870866dup MAGT1(NM_032121.5):c.429dupC (p.N144Qfs*11) - MAGT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435G>A r.(?) p.(Arg145=) Unknown - likely benign g.77126356C>T - MAGT1(NM_001367916.1):c.339G>A (p.R113=) - MAGT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.506del r.(?) p.(Pro169Glnfs*44) Unknown - likely pathogenic g.77112976del - MAGT1(NM_001367916.1):c.410delC (p.P137Qfs*44) - MAGT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.599G>A r.(?) p.(Arg200Gln) Unknown - VUS g.77112882C>T - MAGT1(NM_032121.5):c.599G>A (p.R200Q) - MAGT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659G>A r.(?) p.(Gly220Asp) Unknown - VUS g.77112339C>T - MAGT1(NM_001367916.1):c.563G>A (p.G188D) - MAGT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707A>G r.(?) p.(Tyr236Cys) Unknown - VUS g.77112291T>C g.77856794T>C MAGT1(NM_001367916.1):c.611A>G (p.Y204C) - MAGT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716G>T r.(?) p.(Arg239Ile) Unknown - VUS g.77112282C>A g.77856785C>A MAGT1(NM_032121.5):c.716G>T (p.R239I, p.(Arg239Ile)) - MAGT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716G>T r.(?) p.(Arg239Ile) Unknown - VUS g.77112282C>A g.77856785C>A MAGT1(NM_032121.5):c.716G>T (p.R239I, p.(Arg239Ile)) - MAGT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716G>T r.(?) p.(Arg239Ile) Unknown - VUS g.77112282C>A g.77856785C>A MAGT1(NM_032121.5):c.716G>T (p.R239I, p.(Arg239Ile)) - MAGT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.858+175dup r.(=) p.(=) Unknown - VUS g.77110833dup g.77855336dup - - MAGT1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.922+1G>A r.spl? p.? Unknown - pathogenic g.77109397C>T g.77853900C>T MAGT1(NM_032121.5):c.922+1G>A - MAGT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932T>G r.(?) p.(Val311Gly) Parent #1 - VUS g.77096808A>C g.77841311A>C V311G - MAGT1_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.932T>G r.(?) p.(Val311Gly) Maternal (confirmed) - pathogenic (recessive) g.77096808A>C - - - MAGT1_000013 gene reported as IAP PubMed: Molinari 2008 - - Germline yes - - - - DNA SEQ - - ID Fam2PatIII5/6 PubMed: Molinari 2008 2-generation family, 2 affected males, 2 mild affected females M - Australia - - - - - 2 Johan den Dunnen
-?/. - c.1028T>G r.(?) p.(Val343Gly) Unknown - likely benign g.77086362A>C g.77830865A>C MAGT1(NM_032121.5):c.1028T>G (p.V343G, p.(Val343Gly)) - MAGT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1028T>G r.(?) p.(Val343Gly) Unknown - VUS g.77086362A>C g.77830865A>C MAGT1(NM_032121.5):c.1028T>G (p.V343G, p.(Val343Gly)) - MAGT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1028T>G r.(?) p.(Val343Gly) Unknown - likely benign g.77086362A>C - MAGT1(NM_032121.5):c.1028T>G (p.V343G, p.(Val343Gly)) - MAGT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047G>T r.(?) p.(Met349Ile) Unknown - likely benign g.77086343C>A g.77830846C>A MAGT1(NM_032121.5):c.1047G>T (p.M349I) - MAGT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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