Full data view for gene SEMA6B

Information The variants shown are described using the NM_032108.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Methylation     

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ID_report     

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Owner     
-?/. - c.24T>A r.(?) p.(Pro8=) Unknown - likely benign g.4558446A>T - SEMA6B(NM_032108.4):c.24T>A (p.P8=) - SEMA6B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37C>T r.(?) p.(Leu13=) Unknown - likely benign g.4558433G>A - SEMA6B(NM_032108.4):c.37C>T (p.L13=) - SEMA6B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81T>C r.(?) p.(Phe27=) Unknown - likely benign g.4558389A>G g.4558377A>G SEMA6B(NM_032108.4):c.81T>C (p.F27=) - SEMA6B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286A>G r.(?) p.(Thr96Ala) Unknown - VUS g.4557195T>C - SEMA6B(NM_032108.4):c.286A>G (p.(Thr96Ala)) - SEMA6B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.370-3C>T r.spl? p.? Unknown - likely benign g.4556104G>A - SEMA6B(NM_032108.4):c.370-3C>T - SEMA6B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.411C>G r.(?) p.(Asp137Glu) Unknown - VUS g.4556060G>C - SEMA6B(NM_032108.3):c.411C>G (p.(Asp137Glu)) - SEMA6B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419C>T r.(?) p.(Thr140Met) Unknown - VUS g.4556052G>A - SEMA6B(NM_032108.4):c.419C>T (p.T140M) - SEMA6B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.493G>A r.(?) p.(Gly165Arg) Both (homozygous) ACMG VUS g.4555555C>T g.4555543C>T - - SEMA6B_000001 - PubMed: de Castro-MirĂł 2016 - - Germline yes - - - - DNA SEQ-NG-I - - CORD 66ORG PubMed: de Castro-MirĂł 2016 - - - - - - - - - 1 Marta de Castro-MirĂł
+?/. 7 c.493G>A r.(?) p.(Gly165Arg) Unknown - likely pathogenic g.4555555C>T g.4555543C>T - - SEMA6B_000001 - PubMed: de Castro-MirĂł 2016 - - Germline - - - - - DNA SEQ-NG-I Whole blood - CORD 66ORG1 PubMed: de Castro-MirĂł 2016 - M - Saudi Arabia - - - - - 1 Marta de Castro-MirĂł
?/. - c.650G>A r.(?) p.(Arg217His) Unknown - VUS g.4555020C>T - SEMA6B(NM_032108.4):c.650G>A (p.R217H) - SEMA6B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.711G>A r.(?) p.(Trp237*) Unknown - VUS g.4554460C>T - SEMA6B(NM_032108.4):c.711G>A (p.(Trp237*)) - SEMA6B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.733_735del r.(?) p.(Phe245del) Unknown - VUS g.4554443_4554445del - SEMA6B(NM_032108.4):c.733_735delTTC (p.F245del) - SEMA6B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784C>T r.(?) p.(Arg262Cys) Unknown - likely benign g.4552639G>A - - - SEMA6B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804G>A r.(?) p.(Lys268=) Unknown - likely benign g.4552619C>T - SEMA6B(NM_032108.4):c.804G>A (p.K268=) - SEMA6B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Val277Met) Unknown - VUS g.4552594C>T - - - SEMA6B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.966C>T r.(?) p.(Ala322=) Unknown - likely benign g.4552457G>A - SEMA6B(NM_032108.4):c.966C>T (p.A322=) - SEMA6B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998G>A r.(?) p.(Gly333Asp) Unknown - VUS g.4550934C>T - - - SEMA6B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1011C>T r.(?) p.(=) Unknown - likely benign g.4550921G>A - SEMA6B(NM_032108.4):c.1011C>T (p.(Cys337=)) - SEMA6B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1033G>A r.(?) p.(Ala345Thr) Unknown - VUS g.4550899C>T - - - SEMA6B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1135G>A r.(?) p.(Ala379Thr) Unknown - likely benign g.4550271C>T - - - SEMA6B_000042 - - - rs529978613 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1223C>T r.(?) p.(Ala408Val) Unknown - likely benign g.4550183G>A - SEMA6B(NM_032108.4):c.1223C>T (p.A408V) - SEMA6B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1267A>G r.(?) p.(Met423Val) Unknown - VUS g.4550139T>C - - - SEMA6B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1300G>A r.(?) p.(Val434Met) Unknown - likely benign g.4548429C>T - SEMA6B(NM_032108.4):c.1300G>A (p.V434M) - SEMA6B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1449G>C r.(?) p.(Pro483=) Unknown - likely benign g.4548280C>G - SEMA6B(NM_032108.4):c.1449G>C (p.P483=) - SEMA6B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477G>A r.(?) p.(Glu493Lys) Unknown - VUS g.4548163C>T - SEMA6B(NM_032108.3):c.1477G>A (p.(Glu493Lys)) - SEMA6B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1490G>A r.(?) p.(Arg497Gln) Unknown - likely benign g.4548150C>T - SEMA6B(NM_032108.4):c.1490G>A (p.R497Q) - SEMA6B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1490G>A r.(?) p.(Arg497Gln) Unknown - likely benign g.4548150C>T - SEMA6B(NM_032108.4):c.1490G>A (p.R497Q) - SEMA6B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1490G>A r.(?) p.(Arg497Gln) Unknown - likely benign g.4548150C>T - SEMA6B(NM_032108.4):c.1490G>A (p.R497Q) - SEMA6B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1615A>C r.(?) p.(Ser539Arg) Unknown - VUS g.4546468T>G - SEMA6B(NM_032108.4):c.1615A>C (p.S539R) - SEMA6B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1706G>T r.(?) p.(Gly569Val) Unknown - VUS g.4546260C>A g.4546248C>A SEMA6B(NM_032108.3):c.1706G>T (p.(Gly569Val)) - SEMA6B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1720G>A r.(?) p.(Gly574Ser) Unknown - VUS g.4546246C>T - SEMA6B(NM_032108.4):c.1720G>A (p.G574S) - SEMA6B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1723T>G r.(?) p.(Leu575Val) Unknown - likely benign g.4546243A>C - SEMA6B(NM_032108.4):c.1723T>G (p.L575V) - SEMA6B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1931C>T r.(?) p.(Ala644Val) Unknown - VUS g.4544349G>A - SEMA6B(NM_032108.3):c.1931C>T (p.(Ala644Val)), SEMA6B(NM_032108.4):c.1931C>T (p.A644V) - SEMA6B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1931C>T r.(?) p.(Ala644Val) Unknown - VUS g.4544349G>A - SEMA6B(NM_032108.3):c.1931C>T (p.(Ala644Val)), SEMA6B(NM_032108.4):c.1931C>T (p.A644V) - SEMA6B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1950_1969dup r.(?) p.(Arg657Profs*35) Unknown - pathogenic (dominant) g.4544311_4544330dup g.4544299_4544318dup - - SEMA6B_000005 - PubMed: Hamanaka 2020, Journal: Hamanaka 2020 - - De novo - - - - - DNA SEQ-NG - WES epilepsy Fam1PatII1 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.1976_1982del r.(?) p.(Ala659Valfs*24) Unknown - pathogenic (dominant) g.4544306_4544312del g.4544294_4544300del - - SEMA6B_000006 - PubMed: Hamanaka 2020, Journal: Hamanaka 2020 - - De novo - - - - - DNA SEQ-NG - WES epilepsy Fam2PatII1 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.1991del r.(?) p.(Gly664Alafs*21) Unknown - pathogenic (dominant) g.4544293del g.4544281del - - NPHS1_000138 - PubMed: Hamanaka 2020, Journal: Hamanaka 2020 - - De novo - - - - - DNA SEQ-NG - WES epilepsy Fam3PatII4 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Israel - - - - - 1 Johan den Dunnen
+/. - c.1991del r.(?) p.(Gly664Alafs*21) Unknown - pathogenic (dominant) g.4544293del g.4544281del - - NPHS1_000138 - PubMed: Hamanaka 2020, Journal: Hamanaka 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES epilepsy Fam4PatII4 PubMed: Hamanaka 2020, Journal: Hamanaka 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Malaysia - - - - - 1 Johan den Dunnen
+/. - c.1993del r.(?) p.(Arg665Glyfs*20) Unknown ACMG pathogenic g.4544288del g.4544276del 1993delC - SEMA6B_000013 ACMG PVS1, PM2, PM6; The patient's electroclinical phenotype is consistent with the recent report of PME due to pathogenic variants in SEMA6B. The frameshift variant identified in this patient and subsequently confirmed de novois located within the same last exon of all previously reported cases. Thus, the phenotype is compatible for the genetic finding. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES - EPM PME83 PubMed: Courage 2021, Journal: Courage 2021 - M no Australia - - - - - 1 Carolina Courage
?/. - c.2012_2017del r.(?) p.(Gly671_Gly672del) Unknown - VUS g.4544273_4544278del - SEMA6B(NM_032108.4):c.2012_2017delGTGGCG (p.G671_G672del) - SEMA6B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2032del r.(?) p.(Glu678Argfs*7) Unknown ACMG likely pathogenic g.4544248del - 2032delG - SEMA6B_000012 ACMG PVS1, PM2; The patient's electroclinical phenotype is consistent with the recent report of PME due to pathogenic variants in SEMA6B. The frameshift variant identified in this patient is located within the same last exon of all previously reported cases. Whilst the phenotype is compatible with SEMA6B mutation, in the absence of parental DNA to confirm the variant as de novowe remain cautious and report this finding with moderate confidence. PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ, SEQ-NG WES - EPM PME25 PubMed: Courage 2021, Journal: Courage 2021 - F no Canada Italy - - - - 1 Carolina Courage
-?/. - c.2061C>T r.(?) p.(Asn687=) Unknown - likely benign g.4544219G>A - SEMA6B(NM_032108.4):c.2061C>T (p.N687=) - SEMA6B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2105T>C r.(?) p.(Leu702Pro) Unknown - VUS g.4544175A>G - SEMA6B(NM_032108.4):c.2105T>C (p.L702P) - SEMA6B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2333G>C r.(?) p.(Arg778Pro) Unknown - likely benign g.4543947C>G g.4543935C>G SEMA6B(NM_032108.4):c.2333G>C (p.R778P) - SEMA6B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2342G>T r.(?) p.(Arg781Leu) Unknown - likely benign g.4543938C>A - SEMA6B(NM_032108.4):c.2342G>T (p.R781L) - SEMA6B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2358C>A r.(?) p.(Asp786Glu) Unknown - likely benign g.4543922G>T - SEMA6B(NM_032108.4):c.2358C>A (p.(Asp786Glu)) - SEMA6B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2360T>G r.(?) p.(Phe787Cys) Unknown - VUS g.4543920A>C - SEMA6B(NM_032108.4):c.2360T>G (p.F787C) - SEMA6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2372C>G r.(?) p.(Pro791Arg) Unknown ACMG VUS (!) g.4543908G>C - - - SEMA6B_000014 ACMG: PM1, PM2_SUP; p.Pro791 is located in a highly missense intolerant region of the SEMA6B gene (ExAC regional missense constraint score: 0,08) - - - Germline ? - - - - DNA SEQ-NG-I - - EPM11 183752 - - M ? Turkey - - - - - 1 Andreas Laner
-?/. - c.2374C>G r.(?) p.(His792Asp) Unknown - likely benign g.4543906G>C - SEMA6B(NM_032108.3):c.2374C>G (p.(His792Asp)) - SEMA6B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2440G>A r.(?) p.(Ala814Thr) Unknown - VUS g.4543840C>T - SEMA6B(NM_032108.3):c.2440G>A (p.(Ala814Thr)) - SEMA6B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2638dup r.(?) p.(Ala880Glyfs*144) Unknown - VUS g.4543648dup - SEMA6B(NM_032108.4):c.2638dup (p.(Ala880GlyfsTer144)) - SEMA6B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2654C>T r.(?) p.(Pro885Leu) Unknown - VUS g.4543626G>A - SEMA6B(NM_032108.4):c.2654C>T (p.P885L) - SEMA6B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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