Full data view for gene SCN2A

Information The variants shown are described using the NM_021007.2 transcript reference sequence.

311 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     
./. - c.-572276_*862220del r.0? p.0? Unknown - pathogenic g.165578421_167108554del - - - COBLL1_000312 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-/. - c.-166413C>T r.(?) p.(=) Unknown - benign g.165984284C>T g.165127774C>T - - SCN2A_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-166394T>G r.(?) p.(=) Unknown - likely benign g.165984303T>G g.165127793T>G - - SCN2A_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-166273A>G r.(?) p.(=) Unknown - likely benign g.165984424A>G g.165127914A>G - - SCN2A_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-163949A>G r.(?) p.(=) Unknown - pathogenic g.165986748A>G g.165130238A>G - - SCN3A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-163927G>A r.(?) p.(=) Unknown - likely benign g.165986770G>A - - - SCN2A_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-162927A>G r.(?) p.(=) Unknown - VUS g.165987770A>G g.165131260A>G SCN3A(NM_006922.3):c.2549T>C (p.L850P) - SCN3A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-156259T>C r.(?) p.(=) Unknown - VUS g.165994438T>C - - - SCN2A_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-156233T>C r.(?) p.(=) Unknown - likely benign g.165994464T>C g.165137954T>C - - SCN2A_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-156060C>A r.(?) p.(=) Unknown - likely benign g.165994637C>A - SCN3A(NM_006922.3):c.2153-10G>T - SCN2A_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-154677C>T r.(?) p.(=) Unknown - likely benign g.165996020C>T g.165139510C>T - - SCN2A_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-153462C>A r.(?) p.(=) Unknown - VUS g.165997235C>A g.165140725C>A - - SCN2A_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-153357G>A r.(?) p.(=) Unknown - VUS g.165997340G>A g.165140830G>A - - SCN2A_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-153267C>A r.(?) p.(=) Unknown - likely benign g.165997430C>A g.165140920C>A - - SCN2A_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-147396G>A r.(?) p.(=) Unknown - VUS g.166003301G>A g.165146791G>A SCN3A(NM_006922.3):c.1619C>T (p.S540F) - SCN2A_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-147396G>A r.(?) p.(=) Unknown - likely benign g.166003301G>A - SCN3A(NM_006922.3):c.1619C>T (p.S540F) - SCN2A_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-147177G>A r.(?) p.(=) Unknown - likely benign g.166003520G>A g.165147010G>A - - SCN2A_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-138416A>G r.(?) p.(=) Unknown - likely benign g.166012281A>G - - - SCN2A_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-138356G>T r.(?) p.(=) Unknown - likely benign g.166012341G>T - - - SCN2A_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-131884C>T r.(?) p.(=) Unknown - VUS g.166018813C>T g.165162303C>T - - SCN2A_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-131455A>G r.(?) p.(=) Unknown - VUS g.166019242A>G - - - SCN2A_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-130539G>A r.(?) p.(=) Unknown - VUS g.166020158G>A - SCN3A(NM_006922.4):c.664C>T (p.R222*) - SCN2A_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-129744G>A r.(?) p.(=) Unknown - VUS g.166020953G>A g.165164443G>A - - SCN2A_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-129674A>G r.(?) p.(=) Unknown - VUS g.166021023A>G g.165164513A>G - - SCN2A_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-125407T>A r.(?) p.(=) Unknown - likely benign g.166025290T>A g.165168780T>A - - SCN2A_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-117963A>G r.(?) p.(=) Unknown - benign g.166032734A>G g.165176224A>G - - SCN2A_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-117874G>A r.(?) p.(=) Unknown - VUS g.166032823G>A g.165176313G>A - - SCN2A_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-117824G>T r.(?) p.(=) Unknown - VUS g.166032873G>T g.165176363G>T - - SCN2A_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.-51-225_2389-114dup r.? p.? Unknown - pathogenic g.166152058_166198692dup g.165295548_165342182dup - - SCN2A_000020 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-/. - c.-51-61A>G r.(=) p.(=) Unknown - benign g.166152222A>G g.165295712A>G SCN2A(NM_021007.3):c.-51-61A>G - SCN2A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.16C>A r.(?) p.(Leu6Met) Unknown ACMG VUS g.166152349C>A - - - SCN2A_000292 ACMG: PM2_SUP, PP2, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - EIEE-11 185035 - - M no Germany - - 0 - - 1 Andreas Laner
-/. - c.56G>A r.(?) p.(Arg19Lys) Unknown - benign g.166152389G>A g.165295879G>A SCN2A(NM_021007.3):c.56G>A (p.R19K) - SCN2A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.82C>T r.(?) p.(Arg28Cys) Unknown - benign g.166152415C>T g.165295905C>T SCN2A(NM_021007.3):c.82C>T (p.R28C) - SCN2A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.82C>T r.(?) p.(Arg28Cys) Unknown - VUS g.166152415C>T g.165295905C>T SCN2A(NM_021007.3):c.82C>T (p.R28C) - SCN2A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82C>T r.(?) p.(Arg28Cys) Unknown - likely benign g.166152415C>T g.165295905C>T SCN2A(NM_021007.3):c.82C>T (p.R28C) - SCN2A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.100G>A r.(?) p.(Ala34Thr) Unknown - VUS g.166152433G>A g.165295923G>A - - SCN2A_000030 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs144814658 Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_47:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
-?/. - c.100G>A r.(?) p.(Ala34Thr) Unknown - likely benign g.166152433G>A g.165295923G>A SCN2A(NM_021007.3):c.100G>A (p.A34T) - SCN2A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.115C>T r.(?) p.(Gln39Ter) Unknown - VUS g.166152448C>T g.165295938C>T SCN2A(NM_021007.2):c.115C>T (p.(Gln39Ter)) - SCN2A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.267+51G>A r.(=) p.(=) Unknown - benign g.166152651G>A g.165296141G>A SCN2A(NM_021007.3):c.267+51G>A - SCN2A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.268-52T>C r.(=) p.(=) Unknown - likely benign g.166153475T>C g.165296965T>C SCN2A(NM_021007.3):c.268-52T>C - SCN2A_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268-44A>G r.(=) p.(=) Unknown - likely benign g.166153483A>G g.165296973A>G SCN2A(NM_021007.3):c.268-44A>G - SCN2A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.268-28A>G r.(=) p.(=) Unknown - benign g.166153499A>G g.165296989A>G SCN2A(NM_021007.3):c.268-28A>G - SCN2A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.270G>A r.(?) p.(Thr90=) Unknown - likely benign g.166153529G>A g.165297019G>A SCN2A(NM_001040142.1):c.270G>A (p.(=)) - SCN2A_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.304C>T r.(?) p.(Arg102*) Unknown - pathogenic g.166153563C>T g.165297053C>T - - SCN2A_000021 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.304C>T r.(?) p.(Arg102Ter) Unknown - pathogenic g.166153563C>T g.165297053C>T - - SCN2A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.386+17C>T r.(=) p.(=) Unknown - benign g.166153662C>T g.165297152C>T SCN2A(NM_021007.3):c.386+17C>T - SCN2A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.386+46C>G r.(=) p.(=) Unknown - VUS g.166153691C>G g.165297181C>G SCN2A(NM_021007.3):c.386+46C>G - SCN2A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.387-135del r.(=) p.(=) Unknown - benign g.166164223del g.165307713del SCN2A(NM_021007.3):c.387-135delA - SCN2A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.387-99G>T r.(=) p.(=) Unknown - likely benign g.166164259G>T g.165307749G>T SCN2A(NM_021007.3):c.387-99G>T - SCN2A_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.387-39T>G r.(=) p.(=) Unknown - likely benign g.166164319T>G g.165307809T>G SCN2A(NM_021007.3):c.387-39T>G - SCN2A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.387-32A>G r.(=) p.(=) Unknown - VUS g.166164326A>G g.165307816A>G SCN2A(NM_021007.3):c.387-32A>G - SCN2A_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.387-10G>A r.(=) p.(=) Unknown - benign g.166164348G>A g.165307838G>A SCN2A(NM_021007.3):c.387-10G>A - SCN2A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.408G>T r.(?) p.(Met136Ile) Unknown - pathogenic (dominant) g.166164379G>T g.165307869G>T - - SCN2A_000264 - PubMed: Carvill 2013 - - De novo - - - 0 - DNA MIP, SEQ, SEQ-NG - 65-gene panel EE T20632 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.414G>A r.(?) p.(Thr138=) Unknown - likely benign g.166164385G>A g.165307875G>A SCN2A(NM_021007.2):c.414G>A (p.T138=) - SCN2A_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.415A>G r.(?) p.(Ile139Val) Unknown - likely pathogenic g.166164386A>G g.165307876A>G - - SCN2A_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432A>G r.(?) p.(Val144=) Unknown - likely benign g.166164403A>G - SCN2A(NM_021007.3):c.432A>G (p.V144=) - SCN2A_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488C>G r.(?) p.(Thr163Arg) Unknown - VUS g.166165187C>G g.165308677C>G SCN2A(NM_021007.3):c.488C>G (p.T163R) - SCN2A_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.515T>G r.(?) p.(Ile172Ser) Maternal (confirmed) - pathogenic g.166165214T>G g.165308704T>G - - SCN2A_000022 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/. - c.562C>T r.(?) p.(Arg188Trp) Unknown - pathogenic g.166165261C>T g.165308751C>T SCN2A(NM_021007.3):c.562C>T (p.R188W) - SCN2A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.605+1G>A r.spl? p.? Unknown - pathogenic g.166165305G>A g.165308795G>A - - SCN2A_000023 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.605+1G>A r.spl? p.? Unknown - pathogenic g.166165305G>A g.165308795G>A SCN2A(NM_021007.3):c.605+1G>A - SCN2A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.605+57T>A r.(=) p.(=) Unknown - likely benign g.166165361T>A g.165308851T>A SCN2A(NM_021007.3):c.605+57T>A - SCN2A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.606-138T>A r.(=) p.(=) Unknown - VUS g.166165724T>A g.165309214T>A - - SCN2A_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.623T>C r.(?) p.(Val208Ala) Unknown - likely pathogenic g.166165879T>C g.165309369T>C SCN2A(NM_021007.3):c.623T>C (p.V208A) - SCN2A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.623T>G r.(?) p.(Val208Gly) Unknown - pathogenic g.166165879T>G g.165309369T>G - - SCN2A_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697+64G>A r.(=) p.(=) Unknown - likely benign g.166166017G>A g.165309507G>A SCN2A(NM_021007.3):c.697+64G>A - SCN2A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.697+103T>C r.(=) p.(=) Unknown - benign g.166166056T>C g.165309546T>C SCN2A(NM_021007.3):c.697+103T>C - SCN2A_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697+124G>A r.(=) p.(=) Unknown - likely benign g.166166077G>A g.165309567G>A SCN2A(NM_021007.3):c.697+124G>A - SCN2A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.730T>C r.(?) p.(Ser244Pro) Unknown - likely pathogenic g.166166865T>C g.165310355T>C - - SCN2A_000186 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
+/. - c.781G>A r.(?) p.(Val261Met) Unknown - pathogenic g.166166916G>A g.165310406G>A SCN2A(NM_021007.3):c.781G>A (p.V261M) - SCN2A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.781G>A r.(?) p.(Val261Met) Unknown - pathogenic g.166166916G>A g.165310406G>A SCN2A(NM_021007.3):c.781G>A (p.V261M) - SCN2A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.788C>T r.(?) p.(Ala263Val) Unknown - pathogenic g.166166923C>T g.165310413C>T SCN2A(NM_021007.3):c.788C>T (p.A263V) - SCN2A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.788C>T r.(?) p.(Ala263Val) Unknown - pathogenic g.166166923C>T g.165310413C>T SCN2A(NM_021007.3):c.788C>T (p.A263V) - SCN2A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.823C>T r.(?) p.(Arg275Ter) Unknown - pathogenic g.166166958C>T g.165310448C>T SCN2A(NM_021007.3):c.823C>T (p.R275*) - SCN2A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.881C>T r.(?) p.(Ser294Phe) Unknown - VUS g.166167016C>T g.165310506C>T - - SCN2A_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.923A>G r.(?) p.(Asn308Ser) Unknown - VUS g.166167058A>G - SCN2A(NM_021007.2):c.923A>G (p.N308S) - SCN2A_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934A>G r.(?) p.(Ser312Gly) Unknown - VUS g.166167069A>G - SCN2A(NM_021007.3):c.934A>G (p.S312G) - SCN2A_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970+6A>T r.(=) p.(=) Unknown - VUS g.166167111A>T g.165310601A>T SCN2A(NM_021007.3):c.970+6A>T - SCN2A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.971-32A>G r.(=) p.(=) Unknown - benign g.166168503A>G g.165311993A>G SCN2A(NM_021007.3):c.971-32A>G - SCN2A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.971-3T>G r.spl? p.? Unknown - likely pathogenic g.166168532T>G g.165312022T>G - - SCN2A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.971-2A>G r.spl? p.? Unknown - likely pathogenic g.166168533A>G g.165312023A>G - - SCN2A_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1035-163A>G r.(=) p.(=) Unknown - benign g.166169967A>G g.165313457A>G SCN2A(NM_021007.3):c.1035-163A>G - SCN2A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1035-55C>A r.(=) p.(=) Unknown - likely benign g.166170075C>A g.165313565C>A SCN2A(NM_021007.3):c.1035-55C>A - SCN2A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1035-26C>G r.(=) p.(=) Unknown - VUS g.166170104C>G g.165313594C>G SCN2A(NM_021007.3):c.1035-26C>G - SCN2A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1035-19T>G r.(=) p.(=) Unknown - benign g.166170111T>G g.165313601T>G SCN2A(NM_021007.3):c.1035-19T>G - SCN2A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1035-3T>C r.spl? p.? Unknown - benign g.166170127T>C g.165313617T>C SCN2A(NM_021007.3):c.1035-3T>C - SCN2A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1035-3T>C r.spl? p.? Unknown - benign g.166170127T>C g.165313617T>C SCN2A(NM_021007.3):c.1035-3T>C - SCN2A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1094C>T r.(?) p.(Thr365Met) Unknown - VUS g.166170189C>T g.165313679C>T SCN2A(NM_021007.3):c.1094C>T (p.T365M) - SCN2A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1094C>T r.(?) p.(Thr365Met) Unknown - likely pathogenic g.166170189C>T g.165313679C>T SCN2A(NM_021007.3):c.1094C>T (p.T365M) - SCN2A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1119del r.(?) p.(Leu375Cysfs*7) Unknown - pathogenic g.166170214del g.165313704del 1119delC - SCN2A_000184 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
+?/. - c.1160A>G r.(?) p.(Glu387Gly) Unknown - likely pathogenic g.166170255A>G - SCN2A(NM_021007.3):c.1160A>G (p.E387G) - SCN2A_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1176+41A>C r.(=) p.(=) Unknown - likely benign g.166170312A>C g.165313802A>C SCN2A(NM_021007.3):c.1176+41A>C - SCN2A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1184G>A r.(?) p.(Arg395His) Unknown - likely pathogenic g.166170419G>A g.165313909G>A SCN2A(NM_021007.2):c.1184G>A (p.(Arg395His)) - SCN2A_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1210T>C r.(?) p.(Phe404Leu) Unknown - VUS g.166170445T>C g.165313935T>C SCN2A(NM_021007.3):c.1210T>C (p.F404L) - SCN2A_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1220T>C r.(?) p.(Leu407Pro) Unknown - VUS g.166170455T>C g.165313945T>C - - SCN2A_000286 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-987 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.1269G>A r.(?) p.(Val423=) Unknown - likely benign g.166170504G>A g.165313994G>A SCN2A(NM_021007.3):c.1269G>A (p.V423=) - SCN2A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1283A>G r.(?) p.(Tyr428Cys) Unknown - pathogenic g.166170518A>G g.165314008A>G - - SCN2A_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1376A>C r.(?) p.(Glu459Ala) Unknown - VUS g.166170611A>C g.165314101A>C - - SCN2A_000262 - - - rs184769423 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
?/. - c.1399G>T r.(?) p.(Ala467Ser) Unknown - VUS g.166171996G>T g.165315486G>T SCN2A(NM_021007.3):c.1399G>T (p.A467S) - SCN2A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1399G>T r.(?) p.(Ala467Ser) Unknown - VUS g.166171996G>T g.165315486G>T SCN2A(NM_021007.3):c.1399G>T (p.A467S) - SCN2A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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