Full data view for gene SCN11A

Information The variants shown are described using the NM_014139.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-28G>C r.(?) p.(=) Unknown - likely benign g.38991881C>G g.38950390C>G - - SCN11A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19C>G r.(?) p.(Pro7Ala) Unknown - VUS g.38991835G>C g.38950344G>C SCN11A(NM_014139.3):c.19C>G (p.P7A) - SCN11A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19C>G r.(?) p.(Pro7Ala) Unknown - likely benign g.38991835G>C - SCN11A(NM_014139.3):c.19C>G (p.P7A) - SCN11A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95C>T r.(?) p.(Ala32Val) Unknown - likely benign g.38991759G>A g.38950268G>A SCN11A(NM_014139.3):c.95C>T (p.A32V) - SCN11A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95C>T r.(?) p.(Ala32Val) Unknown - likely benign g.38991759G>A g.38950268G>A SCN11A(NM_014139.3):c.95C>T (p.A32V) - SCN11A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151C>T r.(?) p.(Arg51Trp) Unknown - VUS g.38991703G>A g.38950212G>A - - SCN11A_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153G>T r.(?) p.(Arg51=) Unknown - likely benign g.38991701C>A g.38950210C>A - - SCN11A_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160C>T r.(?) p.(Leu54Phe) Unknown - likely benign g.38991694G>A g.38950203G>A - - SCN11A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201C>T r.(?) p.(Gly67=) Unknown - likely benign g.38991653G>A - - - SCN11A_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.256C>A r.(?) p.(Arg86=) Unknown - benign g.38991598G>T g.38950107G>T SCN11A(NM_014139.3):c.256C>A (p.R86=) - SCN11A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256C>G r.(?) p.(Arg86Gly) Unknown - likely benign g.38991598G>C - - - SCN11A_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267+9T>C r.(=) p.(=) Unknown - likely benign g.38991578A>G - SCN11A(NM_001349253.2):c.267+9T>C - SCN11A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+14_267+17dup r.(=) p.(=) Unknown - benign g.38991573_38991576dup g.38950082_38950085dup SCN11A(NM_014139.3):c.267+14_267+17dupCGGG - SCN11A_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+16G>C r.(=) p.(=) Unknown - benign g.38991571C>G g.38950080C>G SCN11A(NM_014139.3):c.267+16G>C - SCN11A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267+17_267+18insC r.(=) p.(=) Unknown - likely benign g.38991569_38991570insG g.38950078_38950079insG SCN11A(NM_001349253.2):c.267+17_267+18insC - SCN11A_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267+17_267+18insCG r.(=) p.(=) Unknown - likely benign g.38991570_38991571insGC g.38950079_38950080insGC SCN11A(NM_014139.3):c.267+17_267+18insCG - SCN11A_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+17_267+18insCGG r.(=) p.(=) Unknown - benign g.38991571_38991572insGCC g.38950080_38950081insGCC SCN11A(NM_014139.3):c.267+17_267+18insCGG - SCN11A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267+18G>A r.(=) p.(=) Unknown - likely benign g.38991569C>T - SCN11A(NM_001349253.2):c.267+18G>A - SCN11A_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+18G>C r.(=) p.(=) Unknown - benign g.38991569C>G g.38950078C>G SCN11A(NM_014139.3):c.267+18G>C - SCN11A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+19G>C r.(=) p.(=) Unknown - benign g.38991568C>G g.38950077C>G SCN11A(NM_014139.3):c.267+19G>C - SCN11A_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+20G>T r.(=) p.(=) Unknown - benign g.38991567C>A - SCN11A(NM_001349253.2):c.267+20G>T - SCN11A_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+20_267+21insT r.(=) p.(=) Unknown - benign g.38991566_38991567insA g.38950075_38950076insA SCN11A(NM_014139.3):c.267+20_267+21insT - SCN11A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+22_267+38del r.(=) p.(=) Unknown - benign g.38991554_38991570del g.38950063_38950079del - - SCN11A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.268-10dup r.(=) p.(=) Unknown - benign g.38988415dup g.38946924dup SCN11A(NM_014139.3):c.268-10dupT - SCN11A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.268-10dup r.(=) p.(=) Unknown - benign g.38988415dup g.38946924dup SCN11A(NM_014139.3):c.268-10dupT - SCN11A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268-3C>T r.spl? p.? Unknown - likely benign g.38988401G>A g.38946910G>A SCN11A(NM_001349253.2):c.268-3C>T, SCN11A(NM_014139.2):c.268-3C>T (p.?) - SCN11A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268-3C>T r.spl? p.? Unknown - likely benign g.38988401G>A g.38946910G>A SCN11A(NM_001349253.2):c.268-3C>T, SCN11A(NM_014139.2):c.268-3C>T (p.?) - SCN11A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268-3C>T r.spl? p.? Unknown - likely benign g.38988401G>A g.38946910G>A SCN11A(NM_001349253.2):c.268-3C>T, SCN11A(NM_014139.2):c.268-3C>T (p.?) - SCN11A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268-3C>T r.spl? p.? Unknown - likely benign g.38988401G>A - SCN11A(NM_001349253.2):c.268-3C>T, SCN11A(NM_014139.2):c.268-3C>T (p.?) - SCN11A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268-3C>T r.spl? p.? Unknown - likely benign g.38988401G>A - SCN11A(NM_001349253.2):c.268-3C>T, SCN11A(NM_014139.2):c.268-3C>T (p.?) - SCN11A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276G>T r.(?) p.(Met92Ile) Unknown - likely benign g.38988390C>A g.38946899C>A - - SCN11A_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>A r.(?) p.(Val93Met) Unknown - VUS g.38988389C>T - SCN11A(NM_001349253.2):c.277G>A (p.(Val93Met)) - SCN11A_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.327G>T r.(?) p.(Leu109Phe) Unknown - VUS g.38988339C>A - - - SCN11A_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.386+8T>C r.(=) p.(=) Unknown - likely benign g.38988272A>G - SCN11A(NM_014139.3):c.386+8T>C - SCN11A_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387-12G>T r.(=) p.(=) Unknown - likely benign g.38987015C>A g.38945524C>A - - SCN11A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>T r.(?) p.(Ile136=) Unknown - likely benign g.38986982G>A - - - SCN11A_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462C>T r.(?) p.(Ser154=) Unknown - likely benign g.38986928G>A - - - SCN11A_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494_501dup r.(?) p.(Gly168Serfs*11) Unknown - VUS g.38968410_38968417dup - SCN11A(NM_001349253.2):c.494_501dupTCTTCACT (p.G168Sfs*11) - SCN11A_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499A>T r.(?) p.(Thr167Ser) Unknown - VUS g.38968412T>A g.38926921T>A - - SCN11A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547T>G r.(?) p.(Phe183Val) Unknown - VUS g.38968364A>C g.38926873A>C SCN11A(NM_014139.3):c.547T>G (p.F183V) - SCN11A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - VUS g.38968336C>T - SCN11A(NM_001349253.2):c.575G>A (p.R192Q) - SCN11A_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604G>T r.(?) p.(Val202Phe) Unknown - VUS g.38968307C>A - - - SCN11A_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.673C>T r.(?) p.(Arg225Cys) Unknown - VUS g.38966945G>A g.38925454G>A - - SCN11A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.695C>T r.(?) p.(Ala232Val) Unknown - VUS g.38966923G>A g.38925432G>A - - SCN11A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712C>T r.(?) p.(Arg238Cys) Unknown - VUS g.38966906G>A g.38925415G>A SCN11A(NM_001349253.1):c.712C>T (p.R238C), SCN11A(NM_014139.3):c.712C>T (p.R238C) - SCN11A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.712C>T r.(?) p.(Arg238Cys) Unknown - likely benign g.38966906G>A - SCN11A(NM_001349253.1):c.712C>T (p.R238C), SCN11A(NM_014139.3):c.712C>T (p.R238C) - SCN11A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.713-12C>A r.(=) p.(=) Unknown - benign g.38962758G>T g.38921267G>T SCN11A(NM_014139.3):c.713-12C>A - SCN11A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.713-12C>A r.(=) p.(=) Unknown - benign g.38962758G>T g.38921267G>T SCN11A(NM_014139.3):c.713-12C>A - SCN11A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.757C>T r.(?) p.(Leu253=) Unknown - benign g.38962702G>A g.38921211G>A SCN11A(NM_014139.2):c.757C>T (p.L253=), SCN11A(NM_014139.3):c.757C>T (p.L253=) - SCN11A_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.757C>T r.(?) p.(Leu253=) Unknown - benign g.38962702G>A g.38921211G>A SCN11A(NM_014139.2):c.757C>T (p.L253=), SCN11A(NM_014139.3):c.757C>T (p.L253=) - SCN11A_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.757C>T r.(?) p.(Leu253=) Unknown - benign g.38962702G>A g.38921211G>A SCN11A(NM_014139.2):c.757C>T (p.L253=), SCN11A(NM_014139.3):c.757C>T (p.L253=) - SCN11A_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.760G>T r.(?) p.(Val254Phe) Unknown - likely benign g.38962699C>A - - - SCN11A_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807G>A r.(?) p.(Leu269=) Unknown - likely benign g.38962652C>T g.38921161C>T SCN11A(NM_001349253.2):c.807G>A (p.L269=) - SCN11A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.865A>G r.(?) p.(Lys289Glu) Unknown - likely benign g.38962594T>C g.38921103T>C - - SCN11A_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.881C>T r.(?) p.(Pro294Leu) Unknown - likely benign g.38962578G>A - SCN11A(NM_001349253.1):c.881C>T (p.P294L) - SCN11A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.892+24C>T r.(=) p.(=) Unknown - likely benign g.38962543G>A g.38921052G>A - - SCN11A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.959+5G>A r.spl? p.? Unknown - likely benign g.38961421C>T - - - SCN11A_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.988C>A r.(?) p.(His330Asn) Unknown - VUS g.38951670G>T - SCN11A(NM_001349253.2):c.988C>A (p.H330N) - SCN11A_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.998T>G r.(?) p.(Ile333Ser) Unknown - likely benign g.38951660A>C g.38910169A>C - - SCN11A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1060C>T r.(?) p.(Arg354Trp) Unknown - likely pathogenic g.38951598G>A g.38910107G>A SCN11A(NM_001349253.2):c.1060C>T (p.R354W) - SCN11A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060C>T r.(?) p.(Arg354Trp) Unknown - VUS g.38951598G>A - SCN11A(NM_001349253.2):c.1060C>T (p.R354W) - SCN11A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1062G>A r.(?) p.(Arg354=) Unknown - benign g.38951596C>T g.38910105C>T SCN11A(NM_014139.3):c.1062G>A (p.R354=) - SCN11A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070C>T r.(?) p.(Thr357Ile) Unknown - VUS g.38951588G>A - - - SCN11A_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1097A>G r.(?) p.(Gln366Arg) Unknown - likely benign g.38951561T>C - SCN11A(NM_001349253.2):c.1097A>G (p.Q366R) - SCN11A_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1097A>G r.(?) p.(Gln366Arg) Unknown - likely benign g.38951561T>C - SCN11A(NM_001349253.2):c.1097A>G (p.Q366R) - SCN11A_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1102-5T>C r.spl? p.? Unknown - likely benign g.38950690A>G g.38909199A>G - - SCN11A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1138_1140del r.(?) p.(Phe380del) Unknown - VUS g.38950655_38950657del - - - SCN11A_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1142T>C r.(?) p.(Ile381Thr) Unknown - likely pathogenic g.38950645A>G g.38909154A>G SCN11A(NM_001349253.2):c.1142T>C (p.(Ile381Thr)) - SCN11A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1142T>C r.(?) p.(Ile381Thr) Unknown - VUS g.38950645A>G - SCN11A(NM_001349253.2):c.1142T>C (p.(Ile381Thr)) - SCN11A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1172T>G r.(?) p.(Leu391Arg) Unknown - VUS g.38950615A>C - SCN11A(NM_001349253.2):c.1172T>G (p.L391R) - SCN11A_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1187T>C r.(?) p.(Leu396Pro) Unknown - likely pathogenic g.38950600A>G g.38909109A>G - - SCN11A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220A>G r.(?) p.(Asn407Ser) Unknown - VUS g.38950567T>C - SCN11A(NM_001349253.2):c.1220A>G (p.(Asn407Ser)) - SCN11A_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1257G>T r.(?) p.(Lys419Asn) Unknown - VUS g.38950530C>A g.38909039C>A SCN11A(NM_014139.3):c.1257G>T (p.K419N) - SCN11A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1257G>T r.(?) p.(Lys419Asn) Unknown - likely benign g.38950530C>A g.38909039C>A SCN11A(NM_014139.3):c.1257G>T (p.K419N) - SCN11A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1300-18C>G r.(=) p.(=) Unknown - likely benign g.38949631G>C g.38908140G>C SCN11A(NM_014139.3):c.1300-18C>G - SCN11A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1300-18C>G r.(=) p.(=) Unknown - likely benign g.38949631G>C g.38908140G>C SCN11A(NM_014139.3):c.1300-18C>G - SCN11A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1399A>G r.(?) p.(Lys467Glu) Unknown - VUS g.38949514T>C - SCN11A(NM_001287223.1):c.1399A>G (p.(Lys467Glu)) - SCN11A_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1442G>A r.(?) p.(Gly481Glu) Unknown - benign g.38949471C>T g.38907980C>T SCN11A(NM_014139.3):c.1442G>A (p.G481E) - SCN11A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1442G>A r.(?) p.(Gly481Glu) Parent #1 - benign g.38949471C>T g.38907980C>T - - SCN11A_000022 60 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13059805 Germline - 60/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 60 Mohammed Faruq
-/. - c.1442G>A r.(?) p.(Gly481Glu) Both (homozygous) - benign g.38949471C>T g.38907980C>T - - SCN11A_000022 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13059805 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1473+12C>T r.(=) p.(=) Unknown - likely benign g.38949428G>A g.38907937G>A SCN11A(NM_001349253.2):c.1473+12C>T - SCN11A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1473+12C>T r.(=) p.(=) Unknown - benign g.38949428G>A - SCN11A(NM_001349253.2):c.1473+12C>T - SCN11A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501C>T r.(?) p.(Leu501=) Unknown - likely benign g.38946785G>A g.38905294G>A - - SCN11A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1566A>G r.(?) p.(Ala522=) Unknown - likely benign g.38946720T>C g.38905229T>C - - SCN11A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1575T>C r.(?) p.(Ala525=) Unknown - likely benign g.38946711A>G - - - SCN11A_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1599G>A r.(?) p.(Met533Ile) Unknown - VUS g.38946687C>T g.38905196C>T - - SCN11A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1604-18T>C r.(=) p.(=) Unknown - likely benign g.38945612A>G g.38904121A>G - - SCN11A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1632C>A r.(?) p.(=) Unknown - likely benign g.38945566G>T - - - SCN11A_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1638T>C r.(?) p.(Cys546=) Unknown - benign g.38945560A>G g.38904069A>G SCN11A(NM_014139.3):c.1638T>C (p.C546=) - SCN11A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681C>T r.(?) p.(Pro561Ser) Unknown - likely benign g.38945517G>A - - - SCN11A_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1683C>A r.(?) p.(Pro561=) Unknown - likely benign g.38945515G>T - SCN11A(NM_001349253.1):c.1683C>A (p.P561=) - SCN11A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1696G>A r.(?) p.(Val566Ile) Unknown - likely benign g.38945502C>T g.38904011C>T - - SCN11A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1744G>A r.(?) p.(Ala582Thr) Unknown - VUS g.38945454C>T g.38903963C>T - - SCN11A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1843-39C>T r.(=) p.(=) Unknown - likely benign g.38941603G>A g.38900112G>A - - SCN11A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1843-10C>A r.(=) p.(=) Unknown - likely benign g.38941574G>T g.38900083G>T SCN11A(NM_001349253.1):c.1843-10C>A, SCN11A(NM_001349253.2):c.1843-10C>A, SCN11A(NM_014139.3):c.1843-10C>A - SCN11A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1843-10C>A r.(=) p.(=) Unknown - likely benign g.38941574G>T g.38900083G>T SCN11A(NM_001349253.1):c.1843-10C>A, SCN11A(NM_001349253.2):c.1843-10C>A, SCN11A(NM_014139.3):c.1843-10C>A - SCN11A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1843-10C>A r.(=) p.(=) Unknown - likely benign g.38941574G>T - SCN11A(NM_001349253.1):c.1843-10C>A, SCN11A(NM_001349253.2):c.1843-10C>A, SCN11A(NM_014139.3):c.1843-10C>A - SCN11A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1843-10C>A r.(=) p.(=) Unknown - likely benign g.38941574G>T - SCN11A(NM_001349253.1):c.1843-10C>A, SCN11A(NM_001349253.2):c.1843-10C>A, SCN11A(NM_014139.3):c.1843-10C>A - SCN11A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1843-4C>T r.spl? p.? Unknown - likely benign g.38941568G>A - - - SCN11A_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1913G>A r.(?) p.(Arg638His) Unknown - VUS g.38941494C>T - SCN11A(NM_001349253.2):c.1913G>A (p.R638H) - SCN11A_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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