Unique variants in the MAGEB2 gene

Information The variants shown are described using the NM_002364.4 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

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     
?/. 2 - c.-5-35T>C r.(=) p.(=) - VUS g.30236658T>C g.30218541T>C - - MAGEB2_000010 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.32C>G r.(?) p.(Ala11Gly) - likely benign g.30236729C>G g.30218612C>G MAGEB2(NM_002364.4):c.32C>G (p.A11G) - MAGEB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.35G>A r.(?) p.(Arg12His) - VUS g.30236732G>A g.30218615G>A MAGEB2(NM_002364.4):c.35G>A (p.(Arg12His)) - MAGEB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.47G>T r.(?) p.(Arg16Leu) - VUS g.30236744G>T g.30218627G>T MAGEB2(NM_002364.4):c.47G>T (p.(Arg16Leu)) - MAGEB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.118T>A r.(?) p.(Cys40Ser) - VUS g.30236815T>A g.30218698T>A - - MAGEB2_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 3 - c.181G>A r.(?) p.(Glu61Lys) - VUS g.30236878G>A g.30218761G>A - - MAGEB2_000013 recurrent, found 185 times PubMed: Tarpey 2009 - - Germline - 185/208 cases - - - Yu Sun, Lucy Raymond
-?/., ?/. 3 - c.216G>A r.(=), r.(?) p.(=) - likely benign, VUS g.30236913G>A g.30218796G>A A72A - MAGEB2_000016 recurrent, found 59 times PubMed: Tarpey 2009 - - Germline - 59/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.295G>A r.(?) p.(Ala99Thr) - VUS g.30236992G>A g.30218875G>A - - MAGEB2_000028 - - - - Germline/De novo (untested) - - - - - Karine Poirier
-?/., ?/. 3 - c.306C>T r.(=), r.(?) p.(=) - likely benign, VUS g.30237003C>T g.30218886C>T S102S - MAGEB2_000019 recurrent, found 74 times PubMed: Tarpey 2009 - - Germline - 74/208 cases - - - Yu Sun, Lucy Raymond
-?/. 1 - c.499G>C r.(?) p.(Glu167Gln) - likely benign g.30237196G>C g.30219079G>C MAGEB2(NM_002364.4):c.499G>C (p.E167Q) - MAGEB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.523G>A r.(?) p.(Gly175Ser) - likely benign g.30237220G>A g.30219103G>A MAGEB2(NM_002364.4):c.523G>A (p.G175S) - MAGEB2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.698A>T r.(?) p.(Tyr233Phe) - VUS g.30237395A>T g.30219278A>T - - MAGEB2_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.820C>T r.(=) p.(=) - likely benign g.30237517C>T g.30219400C>T L274L - MAGEB2_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.893C>A r.(?) p.(Thr298Asn) - likely benign g.30237590C>A g.30219473C>A MAGEB2(NM_002364.4):c.893C>A (p.T298N) - MAGEB2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.928G>A r.(?) p.(Ala310Thr) - VUS g.30237625G>A g.30219508G>A MAGEB2(NM_002364.4):c.928G>A (p.A310T) - MAGEB2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*177_*178dup r.(=) p.(=) - VUS g.30237834_30237835dup g.30219717_30219718dup - - MAGEB2_000003, MAGEB2_000023 - - - - Germline - - - - - Yu Sun
?/. 4 - c.*178dup r.(=) p.(=) - VUS g.30237835dup g.30219718dup - - MAGEB2_000001, MAGEB2_000022 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*369G>A r.(=) p.(=) - VUS g.30238026G>A g.30219909G>A - - MAGEB2_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*433T>G r.(=) p.(=) - VUS g.30238090T>G g.30219973T>G - - MAGEB2_000007 - - - - Germline - - - - - Yu Sun
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