Full data view for gene SCN8A

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

322 entries on 4 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     
?/. 5 c.? r.? p.? Unknown - VUS g.? - c.572G>A (Arg191Gln) - ALX1_000001 - PubMed: Ganapathy 2019 - rs1345271275 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4211 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 7 c.? r.? p.? Unknown - VUS g.? - c.875A>G (Tyr292Cys) - ALX1_000001 - PubMed: Ganapathy 2019 - rs760924400 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-752 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 12 c.? r.? p.? Unknown - VUS g.? - c.1648A>C (Ile550Leu) - ALX1_000001 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5997 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 13 c.? r.? p.? Unknown - VUS g.? - c.2074G>A (Gly692Arg) - ALX1_000001 - - - rs1037521613 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4199 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 27 c.? r.? p.? Unknown - VUS g.? - c.4951C>G (Leu1651Val) - ALX1_000001 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2534 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 2 c.? r.? p.? Unknown - VUS g.? - c.220C>A (Gln74Lys) - ALX1_000001 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2313 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.10C>T r.(?) p.(Arg4Trp) Unknown - VUS g.52056611C>T - SCN8A(NM_014191.4):c.10C>T (p.R4W) - SCN8A_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53C>A r.(?) p.(Thr18Asn) Unknown - VUS g.52056654C>A g.51662870C>A - - SCN8A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95G>A r.(?) p.(Ser32Asn) Unknown - likely benign g.52056696G>A g.51662912G>A SCN8A(NM_001330260.1):c.95G>A (p.S32N), SCN8A(NM_001330260.2):c.95G>A (p.(Ser32Asn)) - SCN8A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95G>A r.(?) p.(Ser32Asn) Unknown - likely benign g.52056696G>A - SCN8A(NM_001330260.1):c.95G>A (p.S32N), SCN8A(NM_001330260.2):c.95G>A (p.(Ser32Asn)) - SCN8A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269C>T r.(?) p.(Thr90Met) Unknown - VUS g.52056870C>T - SCN8A(NM_014191.4):c.269C>T (p.T90M) - SCN8A_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270G>T r.(?) p.(Thr90=) Unknown - likely benign g.52056871G>T - - - SCN8A_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272A>C r.(?) p.(Gln91Pro) Unknown - VUS g.52056873A>C g.51663089A>C SCN8A(NM_001177984.2):c.272A>C (p.(Gln91Pro)) - SCN8A_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327G>A r.(?) p.(Thr109=) Unknown - likely benign g.52078008G>A g.51684224G>A - - SCN8A_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.389T>C r.(?) p.(Ile130Thr) Unknown - likely benign g.52078070T>C g.51684286T>C SCN8A(NM_014191.4):c.389T>C (p.I130T) - SCN8A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396-6C>T r.(=) p.(=) Unknown - likely benign g.52080146C>T g.51686362C>T SCN8A(NM_001177984.2):c.396-6C>T (p.(=)) - SCN8A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.415A>C r.(?) p.(Met139Leu) Unknown - likely pathogenic g.52080171A>C g.51686387A>C SCN8A(NM_014191.4):c.415A>C (p.M139L) - SCN8A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508A>T r.(?) p.(Thr170Ser) Unknown - likely benign g.52080897A>T - - - SCN8A_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576C>T r.(?) p.(Asp192=) Unknown - benign g.52080965C>T g.51687181C>T SCN8A(NM_014191.3):c.576C>T (p.D192=), SCN8A(NM_014191.4):c.576C>T (p.D192=) - SCN8A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576C>T r.(?) p.(Asp192=) Unknown - benign g.52080965C>T g.51687181C>T SCN8A(NM_014191.3):c.576C>T (p.D192=), SCN8A(NM_014191.4):c.576C>T (p.D192=) - SCN8A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576C>T r.(?) p.(Asp192=) Unknown - benign g.52080965C>T g.51687181C>T SCN8A(NM_014191.3):c.576C>T (p.D192=), SCN8A(NM_014191.4):c.576C>T (p.D192=) - SCN8A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.599G>A r.(?) p.(Ser200Asn) Unknown - VUS g.52080988G>A g.51687204G>A SCN8A(NM_014191.3):c.599G>A (p.(Ser200Asn)) - SCN8A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614+1G>A r.spl? p.? Unknown - VUS g.52081004G>A - SCN8A(NM_001330260.2):c.614+1G>A - SCN8A_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.615-3C>G r.spl? p.? Unknown - VUS g.52082539C>G - SCN8A(NM_014191.4):c.615-3C>G - SCN8A_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.619A>G r.(?) p.(Ile207Val) Unknown - VUS g.52082546A>G - SCN8A(NM_001177984.2):c.619A>G (p.(Ile207Val)) - SCN8A_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.641G>A r.(?) p.(Gly214Asp) Unknown - pathogenic g.52082568G>A g.51688784G>A SCN8A(NM_014191.4):c.641G>A (p.G214D) - SCN8A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.641G>A r.(?) p.(Gly214Asp) Unknown - likely pathogenic g.52082568G>A - - - SCN8A_000020 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.643A>G - - Unknown - pathogenic g.52082570A>G g.51688786A>G - - SCN8A_000008 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 7 c.647T>A r.(?) p.(Val216Asp) Unknown ACMG likely pathogenic (dominant) g.52082574T>A g.51688790T>A - - SCN8A_000177 - - - - De novo yes - - - - DNA SEQ-NG blood WGS ? iw141 - - M no China Chinese - - - - 1 Wenjuan Qiu
-?/. - c.658C>T r.(?) p.(Arg220Cys) Unknown - likely benign g.52082585C>T g.51688801C>T SCN8A(NM_014191.4):c.658C>T (p.R220C) - SCN8A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658C>T r.(?) p.(Arg220Cys) Unknown - VUS g.52082585C>T g.51688801C>T SCN8A(NM_014191.4):c.658C>T (p.R220C) - SCN8A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.667A>G r.(?) p.(Arg223Gly) Unknown - pathogenic g.52082594A>G g.51688810A>G SCN8A(NM_014191.4):c.667A>G (p.R223G) - SCN8A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686A>G r.(?) p.(Lys229Arg) Unknown - VUS g.52082613A>G g.51688829A>G - - SCN8A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.697G>C r.(?) p.(Val233Leu) Unknown - pathogenic g.52082624G>C g.51688840G>C - - SCN8A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.706+5G>T r.spl? p.? Unknown - likely benign g.52082638G>T - SCN8A(NM_014191.3):c.706+5G>T (p.?), SCN8A(NM_014191.4):c.706+5G>T - SCN8A_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.706+5G>T r.spl? p.? Unknown - likely benign g.52082638G>T - SCN8A(NM_014191.3):c.706+5G>T (p.?), SCN8A(NM_014191.4):c.706+5G>T - SCN8A_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.706+5G>T r.spl? p.? Unknown - likely benign g.52082638G>T - SCN8A(NM_014191.3):c.706+5G>T (p.?), SCN8A(NM_014191.4):c.706+5G>T - SCN8A_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.706+238G>A r.(=) p.(=) Unknown - VUS g.52082871G>A g.51689087G>A SCN8A(NM_001330260.2):c.697G>A (p.V233I) - SCN8A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.706+238G>A r.(=) p.(=) Unknown - likely pathogenic g.52082871G>A - SCN8A(NM_001330260.2):c.697G>A (p.V233I) - SCN8A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.706+256A>T r.(=) p.(=) Unknown - likely benign g.52082889A>T - SCN8A(NM_001330260.2):c.706+9A>T - SCN8A_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707-20C>T r.(=) p.(=) Unknown - likely benign g.52093334C>T g.51699550C>T SCN8A(NM_014191.4):c.707-20C>T - SCN8A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707-20C>T r.(=) p.(=) Unknown - likely benign g.52093334C>T - SCN8A(NM_014191.4):c.707-20C>T - SCN8A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728C>T r.(?) p.(Ala243Val) Unknown - VUS g.52093375C>T g.51699591C>T SCN8A(NM_014191.4):c.728C>T (p.A243V) - SCN8A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740C>A r.(?) p.(Ser247Tyr) Unknown - VUS g.52093387C>A g.51699603C>A - - SCN8A_000085 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.744G>A r.(?) p.(Val248=) Unknown - likely benign g.52093391G>A g.51699607G>A SCN8A(NM_014191.4):c.744G>A (p.V248=) - SCN8A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.751C>T r.(?) p.(Leu251=) Unknown - likely benign g.52093398C>T g.51699614C>T - - SCN8A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.752T>C r.(?) p.(Leu251Pro) Unknown - likely pathogenic g.52093399T>C g.51699615T>C - - SCN8A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.779T>C r.(?) p.(Phe260Ser) Unknown - pathogenic g.52093426T>C g.51699642T>C SCN8A(NM_014191.4):c.779T>C (p.F260S) - SCN8A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.800T>C r.(?) p.(Leu267Ser) Unknown ACMG likely pathogenic (dominant) g.52093447T>C g.51699663T>C - - SCN8A_000229 ACMG PS2, PM2, PP2, PP3, PP5 PubMed: Malcolmson 2016, PubMed: Ostrander 2018 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WGS EIEE Patient;Pat5 PubMed: Malcolmson 2016, PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
-?/. - c.810G>A r.(?) p.(Leu270=) Unknown - likely benign g.52093457G>A - - - SCN8A_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.928+9C>T r.(=) p.(=) Unknown - likely benign g.52093584C>T g.51699800C>T SCN8A(NM_014191.4):c.928+9C>T - SCN8A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.929-4C>G - - Unknown - VUS g.52094924C>G g.51701140C>G - - SCN8A_000011 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_275:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.975G>A r.(?) p.(Gly325=) Unknown - likely benign g.52094974G>A g.51701190G>A - - SCN8A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.979A>C r.(?) p.(Ser327Arg) Unknown - likely pathogenic g.52094978A>C g.51701194A>C SCN8A(NM_001330260.2):c.979A>C (p.S327R) - SCN8A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1020G>A r.(?) p.(Met340Ile) Unknown - VUS g.52096584G>A g.51702800G>A - - SCN8A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026A>T r.(?) p.(Ala342=) Unknown - likely benign g.52096590A>T - - - SCN8A_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1200C>A r.(?) p.(Phe400Leu) Unknown - VUS g.52099266C>A g.51705482C>A - - SCN8A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1215del r.(?) p.(Ile406SerfsTer58) Unknown - likely pathogenic g.52099281del - SCN8A(NM_014191.4):c.1215delG (p.I406Sfs*58) - SCN8A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1219T>G r.(?) p.(Leu407Val) Unknown ACMG pathogenic (dominant) g.52099285T>G g.51705501T>G - - SCN8A_000230 ACMG PS2, PM2, PM5, PP2, PP3 PubMed: Ostrander 2018 - - De novo - - - - - DNA arrayCGH, SEQ, SEQ-NG - WGS EIEE Pat3 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.1330G>T r.(?) p.(Glu444*) Unknown - VUS g.52099396G>T - - - SCN8A_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1349C>T r.(?) p.(Ala450Val) Unknown - likely benign g.52100213C>T - SCN8A(NM_014191.4):c.1349C>T (p.A450V) - SCN8A_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c. 1391A>G r.(?) p.Glu464Ala Unknown - likely pathogenic g.52100255A>G - - - SCN8A_000162 - - - - Unknown - - - - - DNA SEQ-NG - - DEE13 67 - - M - China - - - - - 1 Sha Hong
-?/. - c.1416C>T r.(?) p.(=) Unknown - likely benign g.52100280C>T - - - SCN8A_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1450A>G r.(?) p.(Ser484Gly) Unknown - VUS g.52100314A>G - - - SCN8A_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1460G>T r.(?) p.(Ser487Ile) Unknown - VUS g.52100324G>T g.51706540G>T SCN8A(NM_001330260.1):c.1460G>T (p.S487I) - SCN8A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1470A>G r.(?) p.(Glu490=) Unknown - likely benign g.52100334A>G g.51706550A>G SCN8A(NM_001330260.1):c.1470A>G (p.E490=), SCN8A(NM_001330260.2):c.1470A>G (p.E490=) - SCN8A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1470A>G r.(?) p.(Glu490=) Unknown - likely benign g.52100334A>G g.51706550A>G SCN8A(NM_001330260.1):c.1470A>G (p.E490=), SCN8A(NM_001330260.2):c.1470A>G (p.E490=) - SCN8A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1509C>A r.(?) p.(Leu503=) Unknown - likely benign g.52100373C>A - SCN8A(NM_001330260.2):c.1509C>A (p.L503=) - SCN8A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1529G>A r.(?) p.(Gly510Glu) Unknown - VUS g.52100393G>A - - - SCN8A_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1534C>T r.(?) p.(Pro512Ser) Unknown - likely benign g.52100398C>T g.51706614C>T SCN8A(NM_001330260.1):c.1534C>T (p.P512S) - SCN8A_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1588C>T - - Unknown - pathogenic (dominant) g.52100452C>T g.51706668C>T NM_001330260.2:c.1588C>T - SCN8A_000224 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat36 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.1620T>C r.(?) p.(Phe540=) Unknown - likely benign g.52100484T>C g.51706700T>C SCN8A(NM_014191.3):c.1620T>C (p.F540=) - SCN8A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1622C>A - - Unknown ACMG likely pathogenic (dominant) g.52100486C>A g.51706702C>A NM_001330260.2:c.1622C>A - SCN8A_000225 ACMG PS2,PM2,PM6,PP3 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat22 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
?/. - c.1651_1695dup r.(?) p.(Pro551_Ile565dup) Unknown - VUS g.52115345_52115389dup - SCN8A(NM_001330260.2):c.1651_1695dup (p.(Pro551_Ile565dup)) - SCN8A_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1717C>T - - Unknown - VUS g.52115411C>T g.51721627C>T - - SCN8A_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_170:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
+?/. 12 c.1723C>T r.? p.? Maternal (confirmed) ACMG likely pathogenic g.52115417C>T g.51721633C>T - - SCN8A_000251 inherited from affected mother with mild intellectual disability - ClinVar-3378401 rs1555221488 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.1740G>A r.(?) p.(Glu580=) Unknown - likely benign g.52115434G>A - SCN8A(NM_014191.4):c.1740G>A (p.E580=) - SCN8A_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1769C>T r.(?) p.(Thr590Met) Unknown - VUS g.52115463C>T g.51721679C>T - - SCN8A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1779G>C r.(?) p.(Glu593Asp) Unknown - likely benign g.52115473G>C g.51721689G>C SCN8A(NM_001330260.2):c.1779G>C (p.E593D), SCN8A(NM_014191.4):c.1779G>C (p.E593D) - SCN8A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1779G>C r.(?) p.(Glu593Asp) Unknown - likely benign g.52115473G>C g.51721689G>C SCN8A(NM_001330260.2):c.1779G>C (p.E593D), SCN8A(NM_014191.4):c.1779G>C (p.E593D) - SCN8A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1779G>C r.(?) p.(Glu593Asp) Unknown - VUS g.52115473G>C - SCN8A(NM_001330260.2):c.1779G>C (p.E593D), SCN8A(NM_014191.4):c.1779G>C (p.E593D) - SCN8A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1790G>A r.(?) p.(Arg597His) Both (homozygous) ACMG likely pathogenic (recessive) g.52115484G>A g.51721700G>A - - SCN8A_000182 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8900186 PubMed: Hu 2019 family, 2 affected individuals, third cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
?/. - c.1796A>T r.(?) p.(Asp599Val) Unknown - VUS g.52115490A>T - - - SCN8A_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1819G>A r.(?) p.(Ala607Thr) Unknown - likely benign g.52115513G>A g.51721729G>A SCN8A(NM_014191.3):c.1819G>A (p.A607T) - SCN8A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1819G>A r.(?) p.(Ala607Thr) Unknown - likely benign g.52115513G>A g.51721729G>A SCN8A(NM_014191.3):c.1819G>A (p.A607T) - SCN8A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1829G>C r.(?) p.(Arg610Pro) Unknown - VUS g.52115523G>C - - - SCN8A_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1833G>T r.(?) p.(Arg611=) Unknown - likely benign g.52115527G>T g.51721743G>T - - SCN8A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1849dup r.(?) p.(Tyr617LeufsTer54) Unknown - pathogenic g.52115543dup g.51721759dup SCN8A(NM_014191.4):c.1849dupT (p.Y617Lfs*54) - SCN8A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1855_1863del r.(?) p.(Gly619_Ser621del) Unknown - VUS g.52115549_52115557del g.51721765_51721773del SCN8A(NM_001177984.2):c.1838_1846del (p.(Ser615_Tyr617del)), SCN8A(NM_014191.3):c.1855_1863delGGCTACAGC (p.G619_S621del) - SCN8A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1855_1863del r.(?) p.(Gly619_Ser621del) Unknown - VUS g.52115549_52115557del g.51721765_51721773del SCN8A(NM_001177984.2):c.1838_1846del (p.(Ser615_Tyr617del)), SCN8A(NM_014191.3):c.1855_1863delGGCTACAGC (p.G619_S621del) - SCN8A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1876T>A r.(?) p.(Ser626Thr) Unknown - VUS g.52115570T>A g.51721786T>A - - SCN8A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1876T>C r.(?) p.(Ser626Pro) Unknown - VUS g.52115570T>C - - - SCN8A_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1890C>G r.(?) p.(Phe630Leu) Unknown - likely benign g.52115584C>G g.51721800C>G - - SCN8A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1938C>A r.(?) p.(Asn646Lys) Unknown - VUS g.52115632C>A - SCN8A(NM_014191.4):c.1938C>A (p.N646K) - SCN8A_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1963C>T r.(?) p.(Pro655Ser) Unknown - likely benign g.52115657C>T g.51721873C>T - - SCN8A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1965C>T r.(?) p.(=) Unknown - likely benign g.52115659C>T - - - SCN8A_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1984C>T r.(?) p.(Arg662Cys) Unknown - VUS g.52115678C>T g.51721894C>T - - SCN8A_000159 father unavailable PubMed: Carvill 2013 - - Germline/De novo (untested) - - - - - DNA MIP, SEQ, SEQ-NG - 65-gene panel EE T2657 PubMed: Carvill 2013 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1999-5del r.spl? p.? Unknown - benign g.52139682del g.51745898del SCN8A(NM_014191.4):c.1999-5delT - SCN8A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1999-5dup r.spl? p.? Unknown - benign g.52139682dup g.51745898dup SCN8A(NM_014191.4):c.1999-5dupT - SCN8A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1999-5T>A r.spl? p.? Unknown - likely benign g.52139682T>A g.51745898T>A SCN8A(NM_014191.4):c.1999-5T>A - SCN8A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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