All variants in the SCN2B gene

Information The variants shown are described using the NM_004588.4 transcript reference sequence.

116 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. 1 c.-763G>A r.(?) p.(=) - VUS g.123525272C>T g.123654564C>T - - SCN2B_000005 - PubMed: Peeters 2015 - rs12420563 Unknown - - - - - Uschi Peeters
?/. _1 c.-212C>T r.(=) p.(=) - VUS g.118047358G>A g.118176643G>A - - SCN2B_000002 - - - - Unknown ? - - - - Uschi Peeters
?/. - c.5A>G r.(?) p.(His2Arg) - VUS g.118047142T>C g.118176427T>C SCN2B(NM_004588.5):c.5A>G (p.H2R) - SCN2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.5A>G r.(?) p.(His2Arg) - likely benign g.118047142T>C - SCN2B(NM_004588.5):c.5A>G (p.H2R) - SCN2B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.25C>T r.(?) p.(Arg9Cys) - VUS g.118047122G>A g.118176407G>A - - SCN2B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.28C>T r.(?) p.(Pro10Ser) - likely benign g.118047119G>A - - - SCN2B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.52A>G r.(?) p.(Ser18Gly) - likely benign g.118047095T>C g.118176380T>C - - SCN2B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.53G>A r.(?) p.(Ser18Asn) - likely benign g.118047094C>T - - - SCN2B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.70+11_70+12insTC r.(=) p.(=) - VUS g.118047066_118047067insAG g.118176351_118176352insAG insTC - SCN2B_000008 - PubMed: Peeters 2015 - rs72544143 Unknown - - - - - Uschi Peeters
?/. - c.70+11_70+12insTC r.(=) p.(=) - VUS g.118047066_118047067insAG g.118176351_118176352insAG insTC - SCN2B_000008 - PubMed: Peeters 2015 - rs72544143 Unknown - - - - - Uschi Peeters
-/. - c.70+11_70+12insTC r.(=) p.(=) - benign g.118047066_118047067insAG g.118176351_118176352insAG SCN2B(NM_004588.5):c.70+11_70+12insTC - SCN2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.82C>T r.(?) p.(Arg28Trp) - VUS g.118039455G>A - - - SCN2B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.83G>A r.(?) p.(Arg28Gln) - likely benign g.118039454C>T - - - SCN2B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.86G>A r.(?) p.(Ser29Asn) - VUS g.118039451C>T g.118168736C>T SCN2B(NM_004588.5):c.86G>A (p.S29N) - SCN2B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.98C>T r.(?) p.(Thr33Ile) - likely benign g.118039439G>A g.118168724G>A - - SCN2B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.118G>A r.(?) p.(Val40Ile) - likely benign g.118039419C>T - - - SCN2B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.237+27A>G r.(?) p.(=) - VUS g.118039273T>C g.118168558T>C - - SCN2B_000006 - PubMed: Peeters 2015 - rs645675 Unknown - - - - - Uschi Peeters
?/. - c.237+27A>G r.(?) p.(=) - VUS g.118039273T>C g.118168558T>C - - SCN2B_000006 - PubMed: Peeters 2015 - rs645675 Unknown - - - - - Uschi Peeters
?/. - c.237+27A>G r.(?) p.(=) - VUS g.118039273T>C g.118168558T>C - - SCN2B_000006 - PubMed: Peeters 2015 - rs645675 Unknown - - - - - Uschi Peeters
?/. - c.237+27A>G r.(?) p.(=) - VUS g.118039273T>C g.118168558T>C - - SCN2B_000006 - PubMed: Peeters 2015 - rs645675 Unknown - - - - - Uschi Peeters
-?/. - c.251G>A r.(?) p.(Arg84His) - likely benign g.118038997C>T g.118168282C>T - - SCN2B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 c.295G>A r.(?) p.(Asp99Asn) - VUS g.118014716C>T g.118144001C>T - - SCN2B_000007 - PubMed: Peeters 2015 - - Unknown - - - - - Uschi Peeters
-?/. - c.299A>G r.(?) p.(Glu100Gly) - likely benign g.118038949T>C - - - SCN2B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.325G>A r.(?) p.(Asp109Asn) - VUS g.118038923C>T g.118168208C>T - - SCN2B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.332C>T r.(?) p.(Ser111Leu) - VUS g.118038916G>A - - - SCN2B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.357G>A r.(?) p.(Pro119=) - likely benign g.118038891C>T g.118168176C>T - - SCN2B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.388A>T r.(?) p.(Met130Leu) - likely benign g.118038860T>A g.118168145T>A - - SCN2B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.404G>A r.(?) p.(Arg135His) - VUS g.118038844C>T g.118168129C>T SCN2B(NM_004588.5):c.404G>A (p.R135H) - SCN2B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
?/. - c.449-12C>A r.(?) p.(=) - VUS g.118037813G>T g.118167098G>T - - SCN2B_000003 - PubMed: Peeters 2015 - rs8192613 Unknown - - - - - Uschi Peeters
-/. - c.449-12C>A r.(=) p.(=) - benign g.118037813G>T g.118167098G>T SCN2B(NM_004588.5):c.449-12C>A - SCN2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.449-12C>A r.(=) p.(=) - benign g.118037813G>T g.118167098G>T SCN2B(NM_004588.5):c.449-12C>A - SCN2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.470C>T r.(?) p.(Thr157Met) - VUS g.118037780G>A - SCN2B(NM_004588.5):c.470C>T (p.T157M) - SCN2B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
Legend   How to query   « First ‹ Prev     1 2     Next › Last »