All variants in the BMX gene

Information The variants shown are described using the NM_001721.6 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-27607G>T r.(?) p.(=) - likely benign g.15497935G>T g.15479812G>T PIR(NM_001018109.2):c.106C>A (p.(Leu36Met)) - BMX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-16248G>A r.(?) p.(=) - likely benign g.15509294G>A g.15491171G>A PIR(NM_003662.3):c.87C>T (p.G29=) - BMX_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-16201G>A r.(?) p.(=) - likely benign g.15509341G>A g.15491218G>A PIR(NM_003662.3):c.40C>T (p.R14W) - BMX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.264T>A r.(?) p.(=) - likely benign g.15529580T>A g.15511457T>A L88L - BMX_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.506G>A r.(?) p.(Arg169Lys) - VUS g.15536112G>A g.15517989G>A R169K - BMX_000023 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.511-170T>C r.(=) p.(=) - VUS g.15540299T>C g.15522176T>C - - BMX_000001 - - - - Germline - - - - - Yu Sun
?/. - c.511-170T>C r.(=) p.(=) - VUS g.15540299T>C g.15522176T>C - - BMX_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.559T>C r.(?) p.(Ser187Pro) - likely benign g.15540517T>C - BMX(NM_203281.2):c.559T>C (p.S187P) - BMX_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.812C>G r.(?) p.(Thr271Ser) - likely benign g.15543470C>G g.15525347C>G BMX(NM_001721.6):c.812C>G (p.(Thr271Ser)) - BMX_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.851C>T r.(?) p.(Ser284Leu) - VUS g.15544185C>T g.15526062C>T S284L - BMX_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.851C>T r.(?) p.(Ser284Leu) - likely benign g.15544185C>T g.15526062C>T BMX(NM_001721.6):c.851C>T (p.(Ser284Leu)) - BMX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.934C>T r.(?) p.(Gln312*) - VUS g.15548145C>T - BMX(NM_203281.2):c.934C>T (p.(Gln312*)) - BMX_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.975C>G r.(?) p.(Ser325Arg) - likely benign g.15549486C>G - BMX(NM_203281.2):c.975C>G (p.S325R) - BMX_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1020-156T>G r.(=) p.(=) - VUS g.15552179T>G g.15534056T>G - - BMX_000002 - - - - Germline - - - - - Yu Sun
?/. - c.1020-156T>G r.(=) p.(=) - VUS g.15552179T>G g.15534056T>G - - BMX_000002 - - - - Germline - - - - - Yu Sun
?/. - c.1147+102T>C r.(=) p.(=) - VUS g.15552564T>C g.15534441T>C - - BMX_000015 - - - - Germline - - - - - Yu Sun
?/. - c.1147+117dup r.(=) p.(=) - VUS g.15552579dup g.15534456dup - - BMX_000003 - - - - Germline - - - - - Yu Sun
?/. - c.1147+117dup r.(=) p.(=) - VUS g.15552579dup g.15534456dup - - BMX_000020 - - - - Germline - - - - - Yu Sun
?/. - c.1147+117dup r.(=) p.(=) - VUS g.15552579dup g.15534456dup - - BMX_000020 - - - - Germline - - - - - Yu Sun
?/. - c.1222+52T>G r.(=) p.(=) - VUS g.15554602T>G g.15536479T>G - - BMX_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1222+52T>G r.(=) p.(=) - VUS g.15554602T>G g.15536479T>G - - BMX_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1394+183A>G r.(=) p.(=) - VUS g.15555611A>G g.15537488A>G - - BMX_000005 - - - - Germline - - - - - Yu Sun
?/. - c.1394+183A>G r.(=) p.(=) - VUS g.15555611A>G g.15537488A>G - - BMX_000005 - - - - Germline - - - - - Yu Sun
?/. - c.1676+243C>T r.(=) p.(=) - VUS g.15561501C>T g.15543378C>T - - BMX_000006 - - - - Germline - - - - - Yu Sun
?/. - c.1676+243C>T r.(=) p.(=) - VUS g.15561501C>T g.15543378C>T - - BMX_000006 - - - - Germline - - - - - Yu Sun
?/. - c.1677-172C>T r.(=) p.(=) - VUS g.15564754C>T g.15546631C>T - - BMX_000007 - - - - Germline - - - - - Yu Sun
?/. - c.1677-172C>T r.(=) p.(=) - VUS g.15564754C>T g.15546631C>T - - BMX_000007 - - - - Germline - - - - - Yu Sun
-?/. - c.1753C>G r.(?) p.(His585Asp) - likely benign g.15565002C>G g.15546879C>G BMX(NM_001721.6):c.1753C>G (p.(His585Asp)) - BMX_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1783G>A r.(?) p.(Val595Ile) - VUS g.15565032G>A g.15546909G>A BMX(NM_203281.2):c.1783G>A (p.V595I) - BMX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1951G>A r.(?) p.(Glu651Lys) - VUS g.15568118G>A - BMX(NM_203281.3):c.1951G>A (p.(Glu651Lys)) - BMX_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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