All variants in the SCN8A gene

Information The variants shown are described using the NM_014191.3 transcript reference sequence.

224 entries on 3 pages. Showing entries 1 - 100.
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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. 1391A>G r.(?) p.Glu464Ala - likely pathogenic g.52100255A>G - - - SCN8A_000162 - - - - Unknown - - - - - Sha Hong
?/. 5 c.? r.? p.? - VUS g.? - c.572G>A (Arg191Gln) - ALX1_000001 - PubMed: Ganapathy 2019 - rs1345271275 Germline - - - 0 - Johan den Dunnen
?/. 7 c.? r.? p.? - VUS g.? - c.875A>G (Tyr292Cys) - ALX1_000001 - PubMed: Ganapathy 2019 - rs760924400 Germline - - - 0 - Johan den Dunnen
?/. 12 c.? r.? p.? - VUS g.? - c.1648A>C (Ile550Leu) - ALX1_000001 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. 13 c.? r.? p.? - VUS g.? - c.2074G>A (Gly692Arg) - ALX1_000001 - 0 - rs1037521613 Germline - - - 0 - LOVD
?/. 27 c.? r.? p.? - VUS g.? - c.4951C>G (Leu1651Val) - ALX1_000001 - 0 - - Germline - - - 0 - LOVD
?/. 2 c.? r.? p.? - VUS g.? - c.220C>A (Gln74Lys) - ALX1_000001 - 0 - - Germline - - - 0 - LOVD
?/. - c.53C>A r.(?) p.(Thr18Asn) - VUS g.52056654C>A g.51662870C>A - - SCN8A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.95G>A r.(?) p.(Ser32Asn) - likely benign g.52056696G>A g.51662912G>A SCN8A(NM_001330260.1):c.95G>A (p.S32N) - SCN8A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.269C>T r.(?) p.(Thr90Met) - VUS g.52056870C>T - SCN8A(NM_014191.4):c.269C>T (p.T90M) - SCN8A_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.272A>C r.(?) p.(Gln91Pro) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.327G>A r.(?) p.(Thr109=) - likely benign g.52078008G>A g.51684224G>A - - SCN8A_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.389T>C r.(?) p.(Ile130Thr) - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.396-6C>T r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Leiden
+?/. - c.415A>C r.(?) p.(Met139Leu) - 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 - - - 0 - VKGL-NL_Utrecht
?/. - c.508A>T r.(?) p.(Thr170Ser) - VUS g.52080897A>T - - - SCN8A_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.576C>T r.(?) p.(Asp192=) - 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 - - - 0 - VKGL-NL_Groningen
-/. - c.576C>T r.(?) p.(Asp192=) - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.576C>T r.(?) p.(Asp192=) - 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 - - - 0 - VKGL-NL_Nijmegen
?/. - c.599G>A r.(?) p.(Ser200Asn) - 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 - - - 0 - VKGL-NL_Leiden
+/. - c.641G>A r.(?) p.(Gly214Asp) - 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 - - - 0 - VKGL-NL_Utrecht
+?/. - c.641G>A r.(?) p.(Gly214Asp) - likely pathogenic g.52082568G>A - - - SCN8A_000020 - - - - Unknown - - - 0 - IMGAG
+/. - c.643A>G - - - pathogenic g.52082570A>G g.51688786A>G - - SCN8A_000008 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. 7 c.647T>A r.(?) p.(Val216Asp) ACMG likely pathogenic (dominant) g.52082574T>A g.51688790T>A - - SCN8A_000177 - - - - De novo yes - - 0 - Wenjuan Qiu
-?/. - c.658C>T r.(?) p.(Arg220Cys) - 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 - - - 0 - VKGL-NL_Utrecht
?/. - c.658C>T r.(?) p.(Arg220Cys) - 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 - - - - - VKGL-NL_Nijmegen
+/. - c.667A>G r.(?) p.(Arg223Gly) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.686A>G r.(?) p.(Lys229Arg) - VUS g.52082613A>G g.51688829A>G - - SCN8A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.697G>C r.(?) p.(Val233Leu) - pathogenic g.52082624G>C g.51688840G>C - - SCN8A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.706+238G>A r.(=) p.(=) - VUS g.52082871G>A g.51689087G>A - - SCN8A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.707-20C>T r.(=) p.(=) - likely benign g.52093334C>T g.51699550C>T - - SCN8A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.728C>T r.(?) p.(Ala243Val) - 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 - - - 0 - VKGL-NL_VUmc
?/. - c.740C>A r.(?) p.(Ser247Tyr) - VUS g.52093387C>A g.51699603C>A - - SCN8A_000085 - - - - Unknown - - - 0 - IMGAG
-?/. - c.744G>A r.(?) p.(Val248=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.751C>T r.(?) p.(Leu251=) - likely benign g.52093398C>T g.51699614C>T - - SCN8A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.752T>C r.(?) p.(Leu251Pro) - likely pathogenic g.52093399T>C g.51699615T>C - - SCN8A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.779T>C r.(?) p.(Phe260Ser) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.928+9C>T r.(=) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
?/. - c.929-4C>G - - - VUS g.52094924C>G g.51701140C>G - - SCN8A_000011 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
-?/. - c.975G>A r.(?) p.(Gly325=) - likely benign g.52094974G>A g.51701190G>A - - SCN8A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.979A>C r.(?) p.(Ser327Arg) - 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 - - - - - VKGL-NL_Groningen
?/. - c.1020G>A r.(?) p.(Met340Ile) - VUS g.52096584G>A g.51702800G>A - - SCN8A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1200C>A r.(?) p.(Phe400Leu) - VUS g.52099266C>A g.51705482C>A - - SCN8A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1215del r.(?) p.(Ile406SerfsTer58) - likely pathogenic g.52099281del - SCN8A(NM_014191.4):c.1215delG (p.I406Sfs*58) - SCN8A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1460G>T r.(?) p.(Ser487Ile) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1470A>G r.(?) p.(Glu490=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1470A>G r.(?) p.(Glu490=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.1509C>A r.(?) p.(Leu503=) - likely benign g.52100373C>A - SCN8A(NM_001330260.2):c.1509C>A (p.L503=) - SCN8A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1534C>T r.(?) p.(Pro512Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1620T>C r.(?) p.(Phe540=) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.1717C>T - - - VUS g.52115411C>T g.51721627C>T - - SCN8A_000012 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - Dheeraj Bobbili
-?/. - c.1740G>A r.(?) p.(Glu580=) - likely benign g.52115434G>A - SCN8A(NM_014191.4):c.1740G>A (p.E580=) - SCN8A_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1769C>T r.(?) p.(Thr590Met) - VUS g.52115463C>T g.51721679C>T - - SCN8A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1779G>C r.(?) p.(Glu593Asp) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.1779G>C r.(?) p.(Glu593Asp) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.1779G>C r.(?) p.(Glu593Asp) - 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 - - - - - VKGL-NL_VUmc
+?/. - c.1790G>A r.(?) p.(Arg597His) ACMG likely pathogenic (recessive) g.52115484G>A g.51721700G>A - - SCN8A_000182 - PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1819G>A r.(?) p.(Ala607Thr) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1819G>A r.(?) p.(Ala607Thr) - 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 - - - - - VKGL-NL_Nijmegen
-?/. - c.1833G>T r.(?) p.(Arg611=) - likely benign g.52115527G>T g.51721743G>T - - SCN8A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1849dup r.(?) p.(Tyr617LeufsTer54) - pathogenic g.52115543dup g.51721759dup SCN8A(NM_014191.4):c.1849dupT (p.Y617Lfs*54) - SCN8A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1855_1863del r.(?) p.(Gly619_Ser621del) - 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 - - - 0 - VKGL-NL_Leiden
?/. - c.1855_1863del r.(?) p.(Gly619_Ser621del) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.1876T>A r.(?) p.(Ser626Thr) - VUS g.52115570T>A g.51721786T>A - - SCN8A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1876T>C r.(?) p.(Ser626Pro) - VUS g.52115570T>C - - - SCN8A_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1890C>G r.(?) p.(Phe630Leu) - likely benign g.52115584C>G g.51721800C>G - - SCN8A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1963C>T r.(?) p.(Pro655Ser) - likely benign g.52115657C>T g.51721873C>T - - SCN8A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1984C>T r.(?) p.(Arg662Cys) - VUS g.52115678C>T g.51721894C>T - - SCN8A_000159 father unavailable PubMed: Carvill 2013 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-/. - c.1999-5del r.spl? p.? - benign g.52139682del g.51745898del SCN8A(NM_014191.4):c.1999-5delT - SCN8A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1999-5dup r.spl? p.? - benign g.52139682dup g.51745898dup SCN8A(NM_014191.4):c.1999-5_1999-4insT - SCN8A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1999-5T>A r.spl? p.? - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.1999-4A>T r.spl? p.? - likely benign g.52139683A>T g.51745899A>T SCN8A(NM_001330260.1):c.1999-4A>T - SCN8A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2002A>G r.(?) p.(Thr668Ala) - VUS g.52139690A>G g.51745906A>G SCN8A(NM_001177984.2):c.2002A>G (p.(Thr668Ala)), SCN8A(NM_001330260.1):c.2002A>G (p.T668A) - SCN8A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2002A>G r.(?) p.(Thr668Ala) - likely benign g.52139690A>G g.51745906A>G SCN8A(NM_001177984.2):c.2002A>G (p.(Thr668Ala)), SCN8A(NM_001330260.1):c.2002A>G (p.T668A) - SCN8A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2042T>A r.(?) p.(Leu681His) - VUS g.52139730T>A g.51745946T>A SCN8A(NM_001330260.1):c.2042T>A (p.L681H) - SCN8A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2109T>C r.(?) p.(Val703=) - likely benign g.52139797T>C g.51746013T>C SCN8A(NM_001330260.1):c.2109T>C (p.V703=) - SCN8A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2109T>C r.(?) p.(Val703=) - likely benign g.52139797T>C g.51746013T>C SCN8A(NM_001330260.1):c.2109T>C (p.V703=) - SCN8A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2127A>C r.(?) p.(Val709=) - likely benign g.52139815A>C g.51746031A>C SCN8A(NM_014191.3):c.2127A>C (p.V709=) - SCN8A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2132-50T>G r.(=) p.(=) - benign g.52145089T>G g.51751305T>G SCN8A(NM_014191.4):c.2132-50T>G - SCN8A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2273C>T r.(?) p.(Ala758Val) - VUS g.52145280C>T - SCN8A(NM_014191.4):c.2273C>T (p.A758V) - SCN8A_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2371-6A>G r.(=) p.(=) - likely benign g.52156281A>G g.51762497A>G SCN8A(NM_014191.4):c.2371-6A>G - SCN8A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2371-6A>G - - - likely benign g.52156281A>G g.51762497A>G - - SCN8A_000083 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs187002252 Germline - 5/2785 individuals - 0 - Mohammed Faruq
+?/. - c.2424dup r.(?) p.(Pro809Serfs*13) - likely pathogenic g.52156340dup g.51762556dup 2424dupT - SCN8A_000152 variant also present in clinically unaffected sib PubMed: Hughes 2020 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2464G>A r.(?) p.(Gly822Arg) ACMG likely pathogenic (recessive) g.52156380G>A g.51762596G>A - - SCN8A_000163 ACMG PS3, PM2, PP2 PubMed: Johannesen 2020, PubMed: Wengert 2019 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2530C>T r.(?) p.(Arg844*) - likely pathogenic (dominant) g.52156446C>T g.51762662C>T - - SCN8A_000168 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.2531G>A r.(?) p.(Arg844Gln) - VUS g.52156447G>A g.51762663G>A SCN8A(NM_014191.3):c.2531G>A (p.(Arg844Gln)) - SCN8A_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2534C>T - - - likely pathogenic g.52156450C>T g.51762666C>T - - SCN8A_000153 80 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796053210 Germline - 80/2795 individuals - 0 - Mohammed Faruq
-/. - c.2545-7dup r.(=) p.(=) - benign g.52159448dup g.51765664dup SCN8A(NM_014191.3):c.2545-7dupT, SCN8A(NM_014191.4):c.2545-7_2545-6insT, SCN8A(NM_014191.4):c.2545-7dupT - SCN8A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2545-7dup r.(=) p.(=) - benign g.52159448dup g.51765664dup SCN8A(NM_014191.3):c.2545-7dupT, SCN8A(NM_014191.4):c.2545-7_2545-6insT, SCN8A(NM_014191.4):c.2545-7dupT - SCN8A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2545-7dup r.(=) p.(=) - benign g.52159448dup g.51765664dup SCN8A(NM_014191.3):c.2545-7dupT, SCN8A(NM_014191.4):c.2545-7_2545-6insT, SCN8A(NM_014191.4):c.2545-7dupT - SCN8A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2545-6C>A r.(=) p.(=) - likely benign g.52159449C>A g.51765665C>A SCN8A(NM_014191.4):c.2545-6C>A - SCN8A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2545-5dup r.spl? p.? - benign g.52159450dup g.51765666dup SCN8A(NM_014191.4):c.2545-5dupC - SCN8A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.2548C>T r.(?) p.(Arg850*) - likely pathogenic g.52159458C>T - SCN8A(NM_001330260.2):c.2548C>T (p.R850*) - SCN8A_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.2566A>G r.(?) p.(Lys856Glu) - VUS g.52159476A>G - SCN8A(NM_014191.4):c.2566A>G (p.K856E) - SCN8A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2586C>T r.(?) p.(Asn862=) - likely benign g.52159496C>T g.51765712C>T SCN8A(NM_001330260.2):c.2586C>T (p.N862=) - SCN8A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2586C>T r.(?) p.(Asn862=) - likely benign g.52159496C>T - SCN8A(NM_001330260.2):c.2586C>T (p.N862=) - SCN8A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2630A>G r.(?) p.(Asn877Ser) - VUS g.52159540A>G g.51765756A>G - - SCN8A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2632C>T r.(?) p.(Leu878=) - likely benign g.52159542C>T g.51765758C>T SCN8A(NM_001330260.1):c.2632C>T (p.L878=) - SCN8A_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2632C>T r.(?) p.(Leu878=) - likely benign g.52159542C>T - SCN8A(NM_001330260.1):c.2632C>T (p.L878=) - SCN8A_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2670C>T r.(?) p.(Ala890=) - likely benign g.52159580C>T g.51765796C>T - - SCN8A_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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