Full data view for gene SCN1B

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

263 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.-137T>C r.(=) p.(=) Unknown - VUS g.118023525A>G g.118152810A>G - - SCN4B_000002 - PubMed: Peeters 2015 - - Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no - N-African - - - - 1 Uschi Peeters
?/. - c.-41C>G r.(?) p.(=) Unknown - VUS g.35521684C>G g.35030780C>G SCN1B(NM_001037.5):c.-41C>G - SCN1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9C>A r.(?) p.(=) Unknown - benign g.35521716C>A g.35030812C>A SCN1B(NM_001037.5):c.-9C>A - GRAMD1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9C>A r.(?) p.(=) Unknown - VUS g.35521716C>A g.35030812C>A SCN1B(NM_001037.5):c.-9C>A - GRAMD1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.23T>C r.(?) p.(Val8Ala) Unknown - VUS g.35521747T>C - SCN1B(NM_199037.5):c.23T>C (p.V8A) - GRAMD1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28G>A r.(?) p.(Gly10Ser) Unknown - likely benign g.35521752G>A g.35030848G>A - - GRAMD1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40+15G>T r.(=) p.(=) Unknown - benign g.35521779G>T g.35030875G>T SCN1B(NM_001037.5):c.40+15G>T, SCN1B(NM_199037.5):c.40+15G>T - SCN4B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40+15G>T r.(=) p.(=) Unknown - benign g.35521779G>T g.35030875G>T SCN1B(NM_001037.5):c.40+15G>T, SCN1B(NM_199037.5):c.40+15G>T - SCN4B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40+15G>T r.(=) p.(=) Unknown - benign g.35521779G>T g.35030875G>T SCN1B(NM_001037.5):c.40+15G>T, SCN1B(NM_199037.5):c.40+15G>T - SCN4B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40+15G>T r.(=) p.(=) Unknown - benign g.35521779G>T - SCN1B(NM_001037.5):c.40+15G>T, SCN1B(NM_199037.5):c.40+15G>T - SCN4B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40+27C>T r.(=) p.(=) Unknown - likely benign g.35521791C>T g.35030887C>T - - GRAMD1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40+82G>C r.(=) p.(=) Unknown - VUS g.35521846G>C g.35030942G>C SCN1B(NM_001037.5):c.40+82G>C - SCN1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41-65dup r.(=) p.(=) Unknown - likely benign g.35523367dup g.35032463dup SCN1B(NM_001037.5):c.41-65dupG - SCN1B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>T r.(?) p.(Cys21=) Unknown - likely benign g.35523454C>T - - - SCN1B_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.77C>T r.(?) p.(Ser26Leu) Paternal (confirmed) - likely pathogenic g.35523468C>T g.35032564C>T - - SCN1B_000055 Confirmed paternal inheritance, father and fathers sister also affected (GEFS+, febrile seizures). - - - Germline yes - - - - DNA SEQ - - ?, GEFSP 70719 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.82A>G r.(?) p.(Thr28Ala) Parent #1 - VUS g.35523473A>G g.35032569A>G - - SCN1B_000081 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205838 Germline - 4/2758 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.103A>C r.(?) p.(Thr35Pro) Unknown - VUS g.35523494A>C g.35032590A>C SCN1B(NM_001037.5):c.103A>C (p.T35P) - SCN1B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141C>T r.(?) p.(Ser47=) Unknown - likely benign g.35523532C>T g.35032628C>T SCN1B(NM_199037.4):c.141C>T (p.S47=) - SCN1B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142G>A r.(?) p.(Glu48Lys) Unknown - VUS g.35523533G>A g.35032629G>A - - SCN1B_000023 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 78 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - - - - - 1 Ellika Sahlin
+?/. 2 c.151G>A r.(?) p.(Ala51Thr) Paternal (confirmed) - likely pathogenic g.35523542G>A g.35032638G>A - - SCN1B_000001 - PubMed: Della Mina 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - GEFSP1 - - - F ? Italy - - - - - 1 Lab Zuffardi
?/. - c.158C>A r.(?) p.(Thr53Asn) Unknown - VUS g.35523549C>A g.35032645C>A - - SCN1B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.164C>A r.(?) p.(Thr55Asn) Unknown - likely pathogenic g.35523555C>A g.35032651C>A SCN1B(NM_001037.5):c.164C>A (p.T55N) - SCN1B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Glu56Lys) Maternal (confirmed) ACMG likely benign g.35523557G>A g.35032653G>A - - SCN1B_000006 This variant was inherited from the unaffected mother, the variant c.77C>T (p.Ser26Leu) was inherited from the affected father (fathers sister also affected) - - - Germline no - - - - DNA SEQ - - ?, GEFSP 70719 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.168G>C r.(?) p.(Glu56Asp) Unknown - VUS g.35523559G>C - SCN1B(NM_199037.5):c.168G>C (p.E56D) - SCN1B_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.178C>T r.(?) p.(Arg60Cys) Unknown - VUS g.35523569C>T g.35032665C>T - - SCN1B_000002 - PubMed: Della Mina 2014 - - Unknown ? - - - - DNA SEQ-NG-I - - Healthy/Control - - - ? - - - - - - - 1 Lab Zuffardi
+?/. - c.179G>A r.(?) p.(Arg60His) Unknown - likely pathogenic g.35523570G>A g.35032666G>A SCN1B(NM_199037.5):c.179G>A (p.R60H) - SCN1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207+14G>A r.(=) p.(=) Unknown - benign g.35523612G>A g.35032708G>A SCN1B(NM_001037.5):c.207+14G>A - SCN1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207+14G>A r.(=) p.(=) Unknown - benign g.35523612G>A g.35032708G>A SCN1B(NM_001037.5):c.207+14G>A - SCN1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207+31_207+32insCTCC r.(=) p.(=) Unknown - likely benign g.35523629_35523630insCTCC g.35032725_35032726insCTCC - - SCN1B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.207+55G>A r.(?) p.(=) Unknown - VUS g.35523653G>A g.35032749G>A - - SCN1B_000015 - PubMed: Peeters 2015 - rs147990128 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
-/. - c.207+55G>A r.(=) p.(=) Unknown - benign g.35523653G>A g.35032749G>A SCN1B(NM_001037.5):c.207+55G>A - SCN1B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-159G>A r.(=) p.(=) Unknown - likely benign g.35524244G>A g.35033340G>A SCN1B(NM_001037.5):c.208-159G>A - SCN1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-136del r.(=) p.(=) Unknown - likely benign g.35524267del g.35033363del SCN1B(NM_001037.5):c.208-136delT - SCN1B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254G>A r.(?) p.(Arg85His) Unknown - VUS g.35524449G>A g.35033545G>A SCN1B(NM_001037.5):c.254G>A (p.R85H), SCN1B(NM_199037.4):c.254G>A (p.R85H) - SCN1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.254G>A r.(?) p.(Arg85His) Unknown - likely pathogenic g.35524449G>A - SCN1B(NM_001037.5):c.254G>A (p.R85H), SCN1B(NM_199037.4):c.254G>A (p.R85H) - SCN1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.254G>A r.(?) p.(Arg85His) Unknown - likely pathogenic g.35524449G>A - SCN1B(NM_001037.5):c.254G>A (p.R85H), SCN1B(NM_199037.4):c.254G>A (p.R85H) - SCN1B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254G>T r.(?) p.(Arg85Leu) Unknown - VUS g.35524449G>T g.35033545G>T - - SCN1B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>T r.(?) p.(Phe86=) Unknown - likely benign g.35524453C>T g.35033549C>T - - SCN1B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259G>A r.(?) p.(Glu87Lys) Unknown - VUS g.35524454G>A - SCN1B(NM_199037.5):c.259G>A (p.E87K) - SCN1B_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.265C>T r.(?) p.(Arg89Cys) Unknown - VUS g.35524460C>T - SCN1B(NM_199037.5):c.265C>T (p.R89C) - SCN1B_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266G>A r.(?) p.(Arg89His) Unknown - VUS g.35524461G>A g.35033557G>A SCN1B(NM_001037.5):c.266G>A (p.R89H) - SCN1B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266G>A r.(?) p.(Arg89His) Unknown - VUS g.35524461G>A g.35033557G>A SCN1B(NM_001037.5):c.266G>A (p.R89H) - SCN1B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267C>T r.(?) p.(Arg89=) Unknown - benign g.35524462C>T g.35033558C>T SCN1B(NM_001037.5):c.267C>T (p.R89=), SCN1B(NM_199037.5):c.267C>T (p.R89=) - SCN1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>T r.(?) p.(Arg89=) Unknown - likely benign g.35524462C>T g.35033558C>T SCN1B(NM_001037.5):c.267C>T (p.R89=), SCN1B(NM_199037.5):c.267C>T (p.R89=) - SCN1B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(Asp100=) Unknown - likely benign g.35524495C>T g.35033591C>T - - SCN1B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.308A>T r.(?) p.(Asp103Val) Paternal (confirmed) - VUS g.35524503A>T g.35033599A>T - - SCN1B_000020 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH4975_1/_4 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
-/. - c.348G>A r.(?) p.(Ser116=) Unknown - benign g.35524543G>A g.35033639G>A SCN1B(NM_001037.5):c.348G>A (p.S116=) - SCN1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348G>A r.(?) p.(Ser116=) Unknown - likely benign g.35524543G>A g.35033639G>A SCN1B(NM_001037.5):c.348G>A (p.S116=) - SCN1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348G>A r.(?) p.(Ser116=) Unknown - likely benign g.35524543G>A g.35033639G>A SCN1B(NM_001037.5):c.348G>A (p.S116=) - SCN1B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351C>T r.(?) p.(Gly117=) Unknown - benign g.35524546C>T g.35033642C>T SCN1B(NM_001037.5):c.351C>T (p.G117=) - SCN1B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351C>T r.(?) p.(Gly117=) Unknown - benign g.35524546C>T g.35033642C>T SCN1B(NM_001037.5):c.351C>T (p.G117=) - SCN1B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351C>T r.(?) p.(Gly117=) Unknown - likely benign g.35524546C>T g.35033642C>T SCN1B(NM_001037.5):c.351C>T (p.G117=) - SCN1B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.412G>A r.(?) p.(Val138Ile) Unknown - benign g.35524607G>A g.35033703G>A SCN1B(NM_001037.4):c.412G>A (p.(Val138Ile)), SCN1B(NM_001037.5):c.412G>A (p.V138I) - SCN1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412G>A r.(?) p.(Val138Ile) Unknown - likely benign g.35524607G>A g.35033703G>A SCN1B(NM_001037.4):c.412G>A (p.(Val138Ile)), SCN1B(NM_001037.5):c.412G>A (p.V138I) - SCN1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412G>A r.(?) p.(Val138Ile) Unknown - likely benign g.35524607G>A g.35033703G>A SCN1B(NM_001037.4):c.412G>A (p.(Val138Ile)), SCN1B(NM_001037.5):c.412G>A (p.V138I) - SCN1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.412G>A r.(?) p.(Val138Ile) Unknown - benign g.35524607G>A g.35033703G>A SCN1B(NM_001037.4):c.412G>A (p.(Val138Ile)), SCN1B(NM_001037.5):c.412G>A (p.V138I) - SCN1B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.415G>A r.(?) p.(Val139Ile) Unknown - VUS g.35524610G>A g.35033706G>A - - SCN1B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(His143=) Unknown - likely benign g.35524624C>T g.35033720C>T - - SCN1B_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.458G>A r.(?) p.(Gly153Asp) Unknown - likely benign g.35524653G>A g.35033749G>A SCN1B(NM_199037.5):c.458G>A (p.G153D) - SCN1B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477C>T r.(?) p.(Thr159=) Unknown - benign g.35524672C>T g.35033768C>T SCN1B(NM_199037.5):c.477C>T (p.T159=) - SCN1B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477C>T r.(?) p.(Thr159=) Unknown - likely benign g.35524672C>T g.35033768C>T SCN1B(NM_199037.5):c.477C>T (p.T159=) - SCN1B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477C>T r.(?) p.(Thr159=) Unknown - likely benign g.35524672C>T - SCN1B(NM_199037.5):c.477C>T (p.T159=) - SCN1B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478G>A r.(?) p.(Val160Ile) Unknown - likely benign g.35524673G>A g.35033769G>A - - SCN1B_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488G>A r.(?) p.(Arg163Gln) Unknown - likely benign g.35524683G>A - - - SCN1B_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.501T>C r.(?) p.(=) Unknown - VUS g.35530073T>C g.35039169T>C - - SCN1B_000011 - PubMed: Peeters 2015 - rs16969930 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 4 c.501T>C r.(?) p.(=) Unknown - VUS g.35530073T>C g.35039169T>C - - SCN1B_000011 - PubMed: Peeters 2015 - rs16969930 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no - unknown - - - - 1 Uschi Peeters
?/. 4 c.501T>C r.(?) p.(=) Unknown - VUS g.35530073T>C g.35039169T>C - - SCN1B_000011 - PubMed: Peeters 2015 - rs16969930 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 4 c.501T>C r.(?) p.(=) Unknown - VUS g.35530073T>C g.35039169T>C - - SCN1B_000011 - PubMed: Peeters 2015 - rs16969930 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
./. - c.512G>A r.(?) p.(Trp171*) Unknown - VUS g.35524707G>A g.35033803G>A - - SCN1B_000021 stopgain variant PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_124:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.521T>C r.(?) p.(Val174Ala) Unknown - likely benign g.35524716T>C g.35033812T>C - - SCN1B_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532G>C r.(?) p.(Gly178Arg) Unknown - VUS g.35524727G>C g.35033823G>C SCN1B(NM_199037.5):c.532G>C (p.G178R) - SCN1B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532G>C r.(?) p.(Gly178Arg) Unknown - likely benign g.35524727G>C - SCN1B(NM_199037.5):c.532G>C (p.G178R) - SCN1B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.536G>A r.(?) p.(Trp179*) Unknown - likely pathogenic g.35524731G>A g.35033827G>A NM_199037.5:c.536G>A (Trp179*) - SCN1B_000100 variant not definitively linked to disease Fusco 2042, submitted 9254 rs267607028 Germline - - - - - DNA SEQ-NG blood - CM Fam48Pat86 Fusco 2042, submitted - M - Italy white - - - - 1 Carmela Fusco
+/. - c.548G>A r.(?) p.(Trp183*) Unknown ACMG pathogenic (dominant) g.35524743G>A g.35033839G>A NM_199037.5:c.548G>A - SCN1B_000096 ACMG PVS1,PM2,PP3 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat98 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
?/. - c.548G>T r.(?) p.(Trp183Leu) Unknown ACMG VUS g.35524743G>T g.35033839G>T - - SCN1B_000084 - PubMed: Isbister 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - CM AHF1 PubMed: Isbister 2020 - - - Australia - - - - - 1 Johan den Dunnen
-?/. - c.560G>A r.(?) p.(Arg187His) Unknown - likely benign g.35524755G>A - - - SCN1B_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.560G>T r.(?) p.(Arg187Leu) Unknown - likely benign g.35524755G>T g.35033851G>T SCN1B(NM_199037.5):c.560G>T (p.R187L) - SCN1B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577G>A r.(?) p.(Glu193Lys) Unknown - VUS g.35524772G>A g.35033868G>A SCN1B(NM_199037.5):c.577G>A (p.E193K) - SCN1B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588G>A r.(?) p.(Gly196=) Unknown - likely benign g.35524783G>A - - - SCN1B_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.622_623del r.(?) p.(Leu208Valfs*99) Unknown - VUS g.35524817_35524818del g.35033913_35033914del delCT - SCN1B_000003 - - - - Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - - -
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Italy white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Italy white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - F no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
?/. 3 c.629T>C r.(?) p.(Leu210Pro) Unknown - VUS g.35524824T>C g.35033920T>C - - SCN1B_000008 - PubMed: Peeters 2015 - rs55742440 Unknown - - - - - DNA SEQ blood - BRGDA - PubMed: Peeters 2015 - M no Belgium white - - - - 1 Uschi Peeters
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