All variants in the MAGT1 gene

Information The variants shown are described using the NM_032121.5 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.-4093G>A r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.19C>T r.(?) p.(Pro7Ser) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.31T>G r.(?) p.(Phe11Val) - VUS g.77150973A>C - MAGT1(NM_032121.5):c.31T>G (p.F11V) - MAGT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.65_66del r.(?) p.(Lys22SerfsTer49) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.67G>A r.(?) p.(Val23Ile) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.67G>A r.(?) p.(Val23Ile) - 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 - - - 0 - VKGL-NL_Leiden
?/. - c.71C>G r.(?) p.(Ser24Ter) - VUS g.77150933G>C g.77895436G>C - - MAGT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.92C>T r.(?) p.(Ala31Val) - 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 - - - - - VKGL-NL_Leiden
?/. - c.112C>T r.(?) p.(Arg38Trp) - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.112C>T r.(?) p.(Arg38Trp) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.136A>G r.(?) p.(Met46Val) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.281G>A r.(?) p.(Arg94His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.312C>T r.(?) p.(Tyr104=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.369-18G>A r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.369-5T>C r.spl? p.? - likely benign g.77126427A>G - MAGT1(NM_001367916.1):c.273-5T>C - MAGT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.396G>A r.(?) p.(Leu132=) - likely benign g.77126395C>T - MAGT1(NM_001367916.1):c.300G>A (p.L100=) - MAGT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.429dup r.(?) p.(Asn144GlnfsTer11) - pathogenic g.77126363dup g.77870866dup MAGT1(NM_032121.5):c.429dupC (p.N144Qfs*11) - MAGT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.435G>A r.(?) p.(Arg145=) - likely benign g.77126356C>T - MAGT1(NM_001367916.1):c.339G>A (p.R113=) - MAGT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.599G>A r.(?) p.(Arg200Gln) - VUS g.77112882C>T - MAGT1(NM_001367916.1):c.503G>A (p.R168Q) - MAGT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.707A>G r.(?) p.(Tyr236Cys) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.716G>T r.(?) p.(Arg239Ile) - 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 - - - 0 - VKGL-NL_Leiden
?/. - c.716G>T r.(?) p.(Arg239Ile) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.716G>T r.(?) p.(Arg239Ile) - 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 - - - - - VKGL-NL_Groningen
?/. - c.858+175dup r.(=) p.(=) - VUS g.77110833dup g.77855336dup - - MAGT1_000001 - - - - Germline - - - - - Yu Sun
+/. - c.922+1G>A r.spl? p.? - pathogenic g.77109397C>T g.77853900C>T MAGT1(NM_032121.5):c.922+1G>A - MAGT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.932T>G r.(?) p.(Val311Gly) - VUS g.77096808A>C g.77841311A>C V311G - MAGT1_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
+/. - c.932T>G r.(?) p.(Val311Gly) - pathogenic (recessive) g.77096808A>C - - - MAGT1_000013 gene reported as IAP PubMed: Molinari 2008 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.1028T>G r.(?) p.(Val343Gly) - likely benign g.77086362A>C g.77830865A>C MAGT1(NM_001367916.1):c.932T>G (p.V311G), MAGT1(NM_032121.5):c.1028T>G (p.(Val343Gly), p.V343G) - MAGT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1028T>G r.(?) p.(Val343Gly) - VUS g.77086362A>C g.77830865A>C MAGT1(NM_001367916.1):c.932T>G (p.V311G), MAGT1(NM_032121.5):c.1028T>G (p.(Val343Gly), p.V343G) - MAGT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1028T>G r.(?) p.(Val343Gly) - likely benign g.77086362A>C - MAGT1(NM_001367916.1):c.932T>G (p.V311G), MAGT1(NM_032121.5):c.1028T>G (p.(Val343Gly), p.V343G) - MAGT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1047G>T r.(?) p.(Met349Ile) - 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 - - - 0 - VKGL-NL_Rotterdam
Legend   How to query