Unique variants in the SCN9A gene

Information The variants shown are described using the NM_002977.3 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.20C>T r.(?) p.(Pro7Leu) - - VUS g.167168247G>A g.166311737G>A SCN9A(NM_002977.3):c.20C>T (p.P7L) - SCN9A_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.77G>C r.(?) p.(Arg26Pro) - - VUS g.167168190C>G g.166311680C>G - - SCN9A_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.77G>T r.(?) p.(Arg26Leu) - - VUS g.167168190C>A g.166311680C>A - - SCN9A_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.118A>G r.(?) p.(Lys40Glu) - - VUS g.167168149T>C g.166311639T>C - - SCN9A_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 3 - c.129T>C r.(?) p.(Asp43=) - - likely benign g.167168138A>G g.166311628A>G SCN9A(NM_002977.3):c.129T>C (p.D43=, p.=) - SCN9A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., +/. 5 2 c.174G>A r.(?), r.(=) p.(Gln58=), p.(=) N-terminus - benign, pathogenic g.167168093C>T g.166311583C>T SCN9A(NM_002977.3):c.174G>A (p.Q58=) - SCN9A_000008 VKGL data sharing initiative Nederland PubMed: Drenth 2005 - rs6432901 CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, Andreas Laner, VKGL-NL_AMC, Christoph Lossin
+/. 1 2 c.184A>G r.(?) p.(Ile62Val) N-terminus - pathogenic g.167168083T>C g.166311573T>C - - SCN9A_000012 - PubMed: Singh 2009 - - Germline - - - - - Christoph Lossin
-?/. 1 - c.204C>T r.(?) p.(Pro68=) - - likely benign g.167168063G>A g.166311553G>A - - SCN9A_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.240C>T r.(?) p.(Pro80=) - - likely benign g.167168027G>A g.166311517G>A - - SCN9A_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.252C>T r.(?) p.(Asp84=) - - likely benign g.167168015G>A g.166311505G>A - - SCN9A_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.259-79G>A r.(=) p.(=) - - benign g.167163663C>T g.166307153C>T - - SCN9A_000094 - - - rs4447616 Germline - - - - - Andreas Laner
./. 1 - c.269T>C r.(?) p.(Val90Ala) - - VUS g.167163574A>G g.166307064A>G - - SCN9A_000108 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
./. 1 - c.294C>A r.(?) p.(Phe98Leu) - - VUS g.167163549G>T g.166307039G>T - - SCN9A_000107 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs199824489 Germline - 1/567 controls - - - Dheeraj Bobbili
?/. 2 - c.361A>C r.(?) p.(Lys121Gln) - - VUS g.167163482T>G g.166306972T>G SCN9A(NM_002977.3):c.361A>C (p.K121Q) - SCN9A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.371T>C r.(?) p.(Val124Ala) - - VUS g.167163472A>G - - - SCN9A_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.377+92dup r.(=) p.(=) - - benign g.167163375dup g.166306865dup SCN9A(NM_002977.3):c.377+92dupT - SCN9A_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.377+93G>T r.(=) p.(=) - - benign g.167163373C>A g.166306863C>A SCN9A(NM_002977.3):c.377+93G>T - SCN9A_000011 VKGL data sharing initiative Nederland - - rs4443015 CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Andreas Laner
?/., -/. 3 3i c.377+94A>G r.(=) p.(=) - - VUS, benign g.167163372T>C g.166306862T>C SCN9A(NM_002977.3):c.377+94A>G - SCN9A_000001 VKGL data sharing initiative Nederland Lossin, unpublished data - rs58349687 Germline, CLASSIFICATION record - - - - - Christoph Lossin, VKGL-NL_Utrecht, Andreas Laner
?/. 1 3i c.378-90T>A r.(=) p.(=) - - VUS g.167163199A>T g.166306689A>T - - SCN9A_000002 - Lossin, unpublished data - - Germline - - - - - Christoph Lossin
+/. 1 4 c.406A>G r.(?) p.(Ile136Val) D1/S1 - pathogenic g.167163081T>C g.166306571T>C - - SCN9A_000013 - PubMed: Cheng 2008 - - Germline - - - - - Christoph Lossin
-/., +/. 4 2 c.444A>G r.(?), r.(=) p.(Pro148=), p.(=) D1/S1-S2ex - benign, pathogenic g.167163043T>C g.166306533T>C SCN9A(NM_002977.3):c.444A>G (p.P148=), P148P - SCN9A_000009 VKGL data sharing initiative Nederland PubMed: Drenth 2005 - rs964677 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Groningen, Andreas Laner, Christoph Lossin
+/. 1 4 c.446C>A r.(?) p.(Pro149Gln) D1/S1-S2ex - pathogenic g.167163041G>T g.166306531G>T - - SCN9A_000014 - PubMed: Singh 2009 - - Germline - - - - - Christoph Lossin
?/. 1 - c.457A>C r.(?) p.(Lys153Gln) - - VUS g.167163030T>G g.166306520T>G SCN9A(NM_002977.3):c.457A>C (p.K153Q) - SCN9A_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.465C>T r.(?) p.(Val155=) - - likely benign g.167163022G>A g.166306512G>A - - SCN9A_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., -/., -?/. 5 - c.554G>A r.(?) p.(Arg185His) - - VUS, benign, likely benign g.167162344C>T g.166305834C>T SCN9A(NM_002977.3):c.554G>A (p.R185H) - SCN9A_000150 VKGL data sharing initiative Nederland, classification based on frequency in 305 unrelated individuals, 1 more item PubMed: Le 2019, PubMed: Narang 2020, Journal: Narang 2020 - rs73969684 CLASSIFICATION record, Germline - frequency 0.023, 8/2795 individuals - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Global Variome, with Curator vacancy, Mohammed Faruq
?/., -/. 2 5i c.596+25C>T r.(=) p.(=) - - VUS, benign g.167162277G>A g.166305767G>A - - SCN9A_000003 - Lossin, unpublished data - rs4429487 Germline - - - - - Christoph Lossin, Andreas Laner
?/. 1 - c.599A>G r.(?) p.(Tyr200Cys) - - VUS g.167160837T>C g.166304327T>C - - SCN9A_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.601T>G r.(?) p.(Leu201Val) D1/S3 - pathogenic g.167160835A>C g.166304325A>C - - SCN9A_000015 - PubMed: Hisama 2006. - - Germline - - - - - Christoph Lossin
+/. 1 6 c.616A>G r.(?) p.(Asn206Asp) D1/S3-S4ex - pathogenic g.167160820T>C g.166304310T>C - - SCN9A_000016 - PubMed: Hisama 2006. - - Germline - - - - - Christoph Lossin
?/. 1 - c.619C>G r.(?) p.(Leu207Val) - - VUS g.167160817G>C g.166304307G>C - - SCN9A_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.647T>C r.(?) p.(Phe216Ser) D1/S4 - pathogenic g.167160789A>G g.166304279A>G - - SCN9A_000017 - PubMed: Drenth 2005 - - Germline - - - - - Christoph Lossin
-?/. 1 - c.655T>C r.(?) p.(Leu219=) - - likely benign g.167160781A>G g.166304271A>G - - SCN9A_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.684C>G r.(?) p.(Ile228Met) D1/S4 - pathogenic g.167160752G>C g.166304242G>C - - SCN9A_000018 - PubMed: Singh 2009 - - Germline - - - - - Christoph Lossin
-?/. 1 - c.688+9T>C r.(=) p.(=) - - likely benign g.167160739A>G g.166304229A>G SCN9A(NM_002977.3):c.688+9T>C - SCN9A_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.688+13T>C r.(=) p.(=) - - benign g.167160735A>G g.166304225A>G SCN9A(NM_002977.3):c.688+13T>C - SCN9A_000080 VKGL data sharing initiative Nederland - - rs7444988 CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Andreas Laner
?/. 1 6i c.689-217A>G r.(=) p.(=) - - VUS g.167160029T>C g.166303519T>C - - SCN9A_000004 - Lossin, unpublished data - - Germline - - - - - Christoph Lossin
?/. 1 - c.715A>G r.(?) p.(Ile239Val) - - VUS g.167159786T>C g.166303276T>C SCN9A(NM_002977.3):c.715A>G (p.I239V) - SCN9A_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7 c.721T>A r.(?) p.(Ser241Thr) D1/S4-S5in - pathogenic g.167159780A>T g.166303270A>T - - SCN9A_000019 - PubMed: Lampert 2006 - - Germline - - - - - Christoph Lossin
+/. 1 7 c.774_775del r.(?) p.(Val258Valfs*16) D1/S5 - pathogenic g.167159730_167159731del g.166303220_166303221del 774_775delGT - SCN9A_000020 - PubMed: Nilsen 2009 - - Germline - - - - - Christoph Lossin
?/. 1 - c.796C>A r.(?) p.(Leu266Met) - - VUS g.167159705G>T g.166303195G>T - - SCN9A_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 7 c.829C>T r.(?) p.(Arg277*) P1 - pathogenic g.167159672G>A g.166303162G>A - - SCN9A_000021 - PubMed: Goldberg 2007 - - Germline - - - - - Christoph Lossin
-?/. 1 - c.876C>T r.(?) p.(Thr292=) - - likely benign g.167159625G>A g.166303115G>A - - SCN9A_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.965+13T>C r.(=) p.(=) - - likely benign g.167151096A>G g.166294586A>G - - SCN9A_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.966-8G>A r.(=) p.(=) - - likely benign g.167149890C>T g.166293380C>T SCN9A(NM_002977.3):c.966-8G>A - SCN9A_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 9 c.984C>A r.(?) p.(Tyr328*) P1 - pathogenic g.167149864G>T g.166293354G>T - - SCN9A_000022 - PubMed: Goldberg 2007 - - Germline - - - - - Christoph Lossin
?/. 1 - c.1007A>C r.(?) p.(Asn336Thr) - - VUS g.167149841T>G g.166293331T>G - - SCN9A_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1107+41A>G r.(=) p.(=) - - benign g.167149700T>C g.166293190T>C - - SCN9A_000079 - - - rs41268675 Germline - - - - - Andreas Laner
-/. 1 - c.1107+48C>T r.(=) p.(=) - - benign g.167149693G>A g.166293183G>A - - SCN9A_000078 - - - rs7588632 Germline - - - - - Andreas Laner
?/. 1 - c.1109C>T r.(?) p.(Thr370Met) - - VUS g.167145152G>A g.166288642G>A - - SCN9A_000251 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200391162 Germline - 1/2794 individuals - - - Mohammed Faruq
-/., -?/. 2 - c.1110G>A r.(?) p.(Thr370=) - - benign, likely benign g.167145151C>T g.166288641C>T SCN9A(NM_002977.3):c.1110G>A (p.T370=) - SCN9A_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
?/., -/. 4 10 c.1119T>C r.(?), r.(=) p.(=), p.(Ala373=) P1 - VUS, benign g.167145142A>G g.166288632A>G A373A, SCN1A-AS1(NR_110260.1):n.1030-5933A>G, SCN9A(NM_002977.3):c.1119T>C (p.A373=) - SCN9A_000023 VKGL data sharing initiative Nederland PubMed: Drenth 2005 - rs13414203 Germline, CLASSIFICATION record - - - - - Christoph Lossin, VKGL-NL_Groningen, VKGL-NL_AMC, Andreas Laner
?/. 1 - c.1143_1145del r.(?) p.(Phe382del) - - VUS g.167145120_167145122del g.166288610_166288612del - - SCN9A_000076 - - - - Germline - - - - - Andreas Laner
-/. 3 - c.1155G>T r.(?) p.(Val385=) - - benign g.167145106C>A g.166288596C>A SCN9A(NM_002977.3):c.1155G>T (p.V385=) - SCN9A_000147 VKGL data sharing initiative Nederland - - rs58465962 CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1177C>T r.(?) p.(Leu393=) - - likely benign g.167145084G>A g.166288574G>A - - SCN9A_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 10 c.1185C>A r.(?) p.(Asn395Lys) D1/S6 - pathogenic g.167145076G>T g.166288566G>T N395K - SCN9A_000024 - PubMed: Drenth 2005 - - Germline - - - - - Christoph Lossin
?/., -/. 4 10 c.1266A>G r.(?), r.(=) p.(=), p.(Glu422=) L1 - VUS, benign g.167144995T>C g.166288485T>C E422E, SCN1A-AS1(NR_110260.1):n.1030-6080T>C, SCN9A(NM_002977.3):c.1266A>G (p.E422=) - SCN9A_000025 VKGL data sharing initiative Nederland PubMed: Drenth 2005 - rs13402180 Germline, CLASSIFICATION record - - - - - Christoph Lossin, VKGL-NL_Groningen, VKGL-NL_AMC, Andreas Laner
?/., -/. 4 10 c.1287T>A r.(?), r.(=) p.(=), p.(Arg429=) L1 - VUS, benign g.167144974A>T g.166288464A>T R429R, SCN1A-AS1(NR_110260.1):n.1030-6101A>T, SCN9A(NM_002977.3):c.1287T>A (p.R429=) - SCN9A_000026 VKGL data sharing initiative Nederland PubMed: Drenth 2005 - rs6747673 Germline, CLASSIFICATION record - - - - - Christoph Lossin, VKGL-NL_Groningen, VKGL-NL_AMC, Andreas Laner
?/. 1 - c.1318A>G r.(?) p.(Ile440Val) - - VUS g.167143130T>C g.166286620T>C SCN9A(NM_002977.3):c.1318A>G (p.I440V) - SCN9A_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1326G>A r.(?) p.(Ala442=) - - likely benign g.167143122C>T g.166286612C>T - - SCN9A_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1331C>T r.(?) p.(Ala444Val) - - likely benign g.167143117G>A g.166286607G>A - - SCN9A_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1348A>G r.(?) p.(Ile450Val) - - VUS g.167143100T>C g.166286590T>C - - SCN9A_000158 - - - - Germline - - - - - Andreas Laner
+/. 3 11 c.1376C>G r.(?) p.(Ser459*) L1 - pathogenic, pathogenic (recessive) g.167143072G>C g.166286562G>C S459X - SCN9A_000027 - PubMed: Cox 2006, PubMed: Antoniadi 2015 - rs121908908 Germline - - - - - Christoph Lossin, Johan den Dunnen
-?/. 3 - c.1398C>T r.(?) p.(Ser466=) - - likely benign g.167143050G>A g.166286540G>A SCN9A(NM_002977.3):c.1398C>T (p.S466=, p.=) - SCN9A_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/. 2 - c.1464C>T r.(?) p.(Leu488=) - - likely benign g.167142984G>A g.166286474G>A SCN9A(NM_002977.3):c.1464C>T (p.L488=) - SCN9A_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-/., +/. 5 11 c.1469G>A r.(?) p.(Ser490Asn) L1 - benign, pathogenic g.167142979C>T g.166286469C>T SCN9A(NM_002977.3):c.1469G>A (p.S490N) - SCN9A_000028 VKGL data sharing initiative Nederland PubMed: Singh 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Christoph Lossin, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1497A>G r.(?) p.(Lys499=) - - likely benign g.167142951T>C g.166286441T>C - - SCN9A_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1552G>T r.(?) p.(Val518Phe) - - VUS g.167142896C>A g.166286386C>A - - SCN9A_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., +/., ./. 3 11 c.1555G>A r.(?) p.(Glu519Lys) L1 - VUS, pathogenic g.167142893C>T g.166286383C>T - - SCN9A_000029 VKGL data sharing initiative Nederland PubMed: Singh 2009, PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs187453572 CLASSIFICATION record, Germline - 1/567 controls - - - VKGL-NL_Nijmegen, Christoph Lossin, Dheeraj Bobbili
?/. 1 - c.1592C>A r.(?) p.(Thr531Asn) - - VUS g.167142856G>T g.166286346G>T - - SCN9A_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1602+55T>G r.(=) p.(=) - - VUS g.167142791A>C g.166286281A>C - - SCN9A_000157 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.1603-14T>A r.(=) p.(=) - - likely benign g.167141348A>T g.166284838A>T - - SCN9A_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1691T>C r.(?) p.(Ile564Thr) - - VUS g.167141246A>G g.166284736A>G - - SCN9A_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1804A>G r.(?) p.(Ile602Val) - - likely benign g.167141133T>C g.166284623T>C - - SCN9A_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., -/., -?/. 7 12 c.1828C>A r.(?) p.(Pro610Thr) L1 - pathogenic, benign, likely benign g.167141109G>T g.166284599G>T SCN9A(NM_002977.3):c.1828C>A (p.P610T) - SCN9A_000030 VKGL data sharing initiative Nederland, 1 homozygous; Clinindb (India), 1 more item PubMed: Drenth 2005, PubMed: Narang 2020, Journal: Narang 2020 - rs41268673 Germline, CLASSIFICATION record - 1/2795 individuals, 60/2795 individuals - - - Christoph Lossin, VKGL-NL_Nijmegen, Mohammed Faruq, VKGL-NL_Utrecht, Andreas Laner, VKGL-NL_AMC
-?/. 1 - c.1838C>T r.(?) p.(Pro613Leu) - - likely benign g.167141099G>A g.166284589G>A - - SCN9A_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ./. 2 12 c.1846G>A r.(?) p.(Gly616Arg) L1 - pathogenic, VUS g.167141091C>T g.166284581C>T - - SCN9A_000031 - PubMed: Choi 2010, PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs201338643 Germline - 1/194 cases RE - - - Christoph Lossin, Dheeraj Bobbili
+?/. 1 - c.1867G>A r.(?) p.(Asp623Asn) - - likely pathogenic g.167141070C>T g.166284560C>T - - SCN9A_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1875C>T r.(?) p.(Asn625=) - - likely benign g.167141062G>A g.166284552G>A - - SCN9A_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1881G>A r.(?) p.(Val627=) - - likely benign g.167141056C>T g.166284546C>T SCN9A(NM_002977.3):c.1881G>A (p.V627=) - SCN9A_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1901G>A r.(?) p.(Arg634His) - - likely benign g.167141036C>T g.166284526C>T - - SCN9A_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 12 c.1921A>T r.(?) p.(Asn641Tyr) L1 - pathogenic g.167141016T>A g.166284506T>A - - SCN9A_000032 - PubMed: Singh 2009 - - Germline - - - - - Christoph Lossin
-?/. 1 - c.1941+33C>T r.(=) p.(=) - - likely benign g.167140963G>A g.166284453G>A - - SCN9A_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1941+41C>T r.(=) p.(=) - - benign g.167140955G>A g.166284445G>A - - SCN9A_000155 - - - rs7608201 Germline - - - - - Andreas Laner
?/. 1 - c.1942-27T>G r.(=) p.(=) - - VUS g.167138345A>C g.166281835A>C - - SCN9A_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1942-22C>T r.(=) p.(=) - - likely benign g.167138340G>A g.166281830G>A - - SCN9A_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1942-6T>A r.(=) p.(=) - - benign g.167138324A>T g.166281814A>T SCN9A(NM_002977.3):c.1942-6T>A - SCN9A_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1942-4T>A r.spl? p.? - - likely benign g.167138322A>T g.166281812A>T SCN9A(NM_002977.3):c.1942-4T>A - SCN9A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.1942-3del r.spl? p.? - - benign g.167138330del g.166281820del SCN9A(NM_002977.3):c.1942-3delT - SCN9A_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/., -/. 2 - c.1942-3dup r.spl? p.? - - likely benign, benign g.167138330dup g.166281820dup 1 more item - SCN9A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
./. 1 - c.1946C>T r.(?) p.(Thr649Met) - - VUS g.167138314G>A g.166281804G>A - - SCN9A_000104 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200965749 Germline - 1/194 cases RE - - - Dheeraj Bobbili
-?/. 1 - c.1947G>A r.(?) p.(Thr649=) - - likely benign g.167138313C>T g.166281803C>T - - SCN9A_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., +/. 4 13 c.1964A>G r.(?) p.(Lys655Arg) L1 - likely benign, pathogenic g.167138296T>C g.166281786T>C SCN9A(NM_002977.3):c.1964A>G (p.K655R) - SCN9A_000033 VKGL data sharing initiative Nederland PubMed: Singh 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Christoph Lossin, VKGL-NL_AMC
-?/. 1 - c.1974T>C r.(?) p.(Arg658=) - - likely benign g.167138286A>G g.166281776A>G - - SCN9A_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.2026_2029del r.(?) p.Gln676Glufs*3 - ACMG likely pathogenic g.167138235_167138238del g.166281725_166281728del - - SCN9A_000171 no second variant deceted in SCN9A, LOF variants in SCN9A follow a recessive mode of inheritance - - - Germline - - - - - Andreas Laner
?/. 1 - c.2033C>A r.(?) p.(Ala678Glu) - - VUS g.167138227G>T g.166281717G>T - - SCN9A_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 13 c.2052A>G r.(?) p.(Ile684Met) L1 - pathogenic g.167138208T>C g.166281698T>C - - SCN9A_000035 - PubMed: Singh 2009 - - Germline - - - - - Christoph Lossin
-?/. 1 - c.2071+39T>C r.(=) p.(=) - - likely benign g.167138150A>G g.166281640A>G - - SCN9A_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.2072-70C>T r.(=) p.(=) - - benign g.167137175G>A g.166280665G>A SCN9A(NM_002977.3):c.2072-70C>T - SCN9A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/., -/. 3 13i c.2072-15G>A r.(=) p.(=) - - VUS, benign g.167137120C>T g.166280610C>T SCN1A-AS1(NR_110260.1):n.1029+3363C>T, SCN9A(NM_002977.3):c.2072-15G>A - SCN9A_000005 VKGL data sharing initiative Nederland Lossin, unpublished data - rs4525717 Germline, CLASSIFICATION record - - - - - Christoph Lossin, VKGL-NL_AMC, Andreas Laner
-/. 4 - c.2072-14C>T r.(=) p.(=) - - benign g.167137119G>A g.166280609G>A SCN1A-AS1(NR_110260.1):n.1029+3362G>A, SCN9A(NM_002977.3):c.2072-14C>T - SCN9A_000168 VKGL data sharing initiative Nederland - - rs6432893 CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Utrecht, Andreas Laner
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