All variants in the SCN5A gene

Information The variants shown are described using the NM_198056.2 transcript reference sequence.

1944 entries on 20 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.-53+1G>A r.spl? p.? - VUS g.38691021C>T g.38649530C>T - - SCN5A_001301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-53+114_-53+116dup r.(=) p.(=) - likely benign g.38690906_38690908dup g.38649415_38649417dup - - SCN5A_001347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-52-153A>C r.(=) p.(=) - likely benign g.38675003T>G g.38633512T>G - - SCN5A_001346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-6_-4del r.(?) p.(=) - likely benign g.38674802_38674804del g.38633311_38633313del SCN5A(NM_001099404.2):c.-6_-4delGAG - SCN5A_001133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1_28 c.= r.3229_3231del p.Gln1077del - benign g.= - Gln1077del - SCN5A_000000 alternative splicing exon 18 PubMed: Makielski 2003 - - Germline - - - - - Johan den Dunnen
+?/. - c.? r.? p.? ACMG likely pathogenic (dominant) g.38603925G>A g.38562434G>A NM_198056.2:c.3944C>T (Arg1315Gln) - SCN5A_001471 ACMG PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - - Germline - - - - - Jan Traeger-Synodinos
?/. - c.? r.? p.? - VUS g.? - no variant - OPA1_000149 variant definitively linked to disease Fusco 2042, submitted - rs45627438 Germline - - - - - Carmela Fusco
+/. 2 c.3G>A r.(?) p.(?) - pathogenic g.38674796C>T g.38633305C>T G3A - SCN5A_000665 data from Inherited Arrhythmias web site (GenRecord): Mutation in start codon of gene SCN5A transcript 001. PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.4G>A r.(?) p.(Ala2Thr) - VUS g.38674795C>T g.38633304C>T SCN5A(NM_001099404.1):c.4G>A (p.A2T), SCN5A(NM_198056.3):c.4G>A (p.A2T) - SCN5A_001299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4G>A r.(?) p.(Ala2Thr) - VUS g.38674795C>T - SCN5A(NM_001099404.1):c.4G>A (p.A2T), SCN5A(NM_198056.3):c.4G>A (p.A2T) - SCN5A_001299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.22C>T r.(?) p.(Arg8Trp) - VUS g.38674777G>A - SCN5A(NM_198056.3):c.22C>T (p.R8W) - SCN5A_001572 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.23G>A r.(?) p.(Arg8Gln) - VUS g.38674776C>T g.38633285C>T SCN5A(NM_001099404.1):c.23G>A (p.R8Q) - SCN5A_001298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.27G>T r.(?) p.(?) - pathogenic g.38674772C>A - G27T - SCN5A_000891 data from Inherited Arrhythmias web site (variantchecker): G not found at position 221, found C instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Millat 2006 - - Germline - - - - - Johan den Dunnen
?/. - c.40C>T r.(?) p.(Arg14Cys) - VUS g.38674759G>A - SCN5A(NM_001099404.1):c.40C>T (p.R14C) - SCN5A_001394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.44G>C r.(?) p.(Arg15Thr) - VUS g.38674755C>G g.38633264C>G - - SCN5A_001297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.52C>T r.(?) p.(Arg18Trp) - pathogenic g.38674747G>A g.38633256G>A C52T - SCN5A_000890 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - - - Johan den Dunnen
?/. - c.52C>T r.(?) p.(Arg18Trp) - VUS g.38674747G>A g.38633256G>A SCN5A(NM_001099404.1):c.52C>T (p.(Arg18Trp)), SCN5A(NM_001099404.2):c.52C>T (p.R18W), SCN5A(NM_198056.2):c.52C>T (p.R18W), SCN5A(NM_198056.3):c.52C... - SCN5A_000890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.52C>T r.(?) p.(Arg18Trp) - VUS g.38674747G>A g.38633256G>A SCN5A(NM_001099404.1):c.52C>T (p.(Arg18Trp)), SCN5A(NM_001099404.2):c.52C>T (p.R18W), SCN5A(NM_198056.2):c.52C>T (p.R18W), SCN5A(NM_198056.3):c.52C... - SCN5A_000890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.52C>T r.(?) p.(Arg18Trp) - likely benign g.38674747G>A g.38633256G>A SCN5A(NM_001099404.1):c.52C>T (p.(Arg18Trp)), SCN5A(NM_001099404.2):c.52C>T (p.R18W), SCN5A(NM_198056.2):c.52C>T (p.R18W), SCN5A(NM_198056.3):c.52C... - SCN5A_000890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.52C>T r.(?) p.(Arg18Trp) - likely benign g.38674747G>A g.38633256G>A SCN5A(NM_001099404.1):c.52C>T (p.(Arg18Trp)), SCN5A(NM_001099404.2):c.52C>T (p.R18W), SCN5A(NM_198056.2):c.52C>T (p.R18W), SCN5A(NM_198056.3):c.52C... - SCN5A_000890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.52C>T r.(?) p.(Arg18Trp) ACMG likely benign g.38674747G>A g.38633256G>A - - SCN5A_000890 - - - rs199473044 Germline - - - - - Andreas Laner
-?/. - c.52C>T r.(?) p.(Arg18Trp) - likely benign g.38674747G>A - SCN5A(NM_001099404.1):c.52C>T (p.(Arg18Trp)), SCN5A(NM_001099404.2):c.52C>T (p.R18W), SCN5A(NM_198056.2):c.52C>T (p.R18W), SCN5A(NM_198056.3):c.52C... - SCN5A_000890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.53G>A r.(?) p.(Arg18Gln) - VUS g.38674746C>T g.38633255C>T - - SCN5A_000159 - - - - Germline - - - - - Hideki Itoh
+/. 2 c.53G>A r.(?) p.(Arg18Gln) - pathogenic g.38674746C>T g.38633255C>T G53A - SCN5A_000159 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
-?/. - c.53G>A r.(?) p.(Arg18Gln) - likely benign g.38674746C>T g.38633255C>T SCN5A(NM_198056.3):c.53G>A (p.R18Q) - SCN5A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.53G>A r.(?) p.(Arg18Gln) - VUS g.38674746C>T - SCN5A(NM_198056.3):c.53G>A (p.R18Q) - SCN5A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.54G>A r.(?) p.(Arg18=) - likely benign g.38674745C>T - - - SCN5A_001467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.79C>T r.(?) p.(Arg27Cys) - VUS g.38674720G>A g.38633229G>A SCN5A(NM_198056.3):c.79C>T (p.R27C) - SCN5A_001132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.79C>T r.(?) p.(Arg27Cys) - VUS g.38674720G>A - SCN5A(NM_198056.3):c.79C>T (p.R27C) - SCN5A_001132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.80G>A r.(?) p.(Arg27His) - pathogenic g.38674719C>T g.38633228C>T G80A - SCN5A_000664 data from Inherited Arrhythmias web site PubMed: Priori 2002 - - Germline - - - - - Johan den Dunnen
?/. - c.80G>A r.(?) p.(Arg27His) - VUS g.38674719C>T - SCN5A(NM_001099404.1):c.80G>A (p.R27H), SCN5A(NM_198056.3):c.80G>A (p.R27H) - SCN5A_000664 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.80G>A r.(?) p.(Arg27His) - likely benign g.38674719C>T - SCN5A(NM_001099404.1):c.80G>A (p.R27H), SCN5A(NM_198056.3):c.80G>A (p.R27H) - SCN5A_000664 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.80G>A r.(?) p.(Arg27His) - likely benign g.38674719C>T - SCN5A(NM_001099404.1):c.80G>A (p.R27H), SCN5A(NM_198056.3):c.80G>A (p.R27H) - SCN5A_000664 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.86C>T r.(?) p.(Ala29Val) - VUS g.38674713G>A - - - SCN5A_001403 - PubMed: Haskell 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.86C>T r.(?) p.(Ala29Val) - VUS g.38674713G>A - SCN5A(NM_001099404.1):c.86C>T (p.A29V) - SCN5A_001403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 c.87A>G r.(=) p.(Ala28=) - benign g.38674712T>C g.38633221T>C G87A (A28A) - SCN5A_000835 data from Inherited Arrhythmias web site PubMed: Takahata 2003 - - Germline - - - - - Johan den Dunnen
-/. - c.87A>G r.(?) p.(Ala29=) - benign g.38674712T>C g.38633221T>C SCN5A(NM_001099404.2):c.87A>G (p.A29=), SCN5A(NM_198056.2):c.87A>G (p.A29=) - SCN5A_000835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.87A>G r.(?) p.(Ala29=) - benign g.38674712T>C g.38633221T>C SCN5A(NM_001099404.2):c.87A>G (p.A29=), SCN5A(NM_198056.2):c.87A>G (p.A29=) - SCN5A_000835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.87A>G r.(?) p.(Ala29=) - benign g.38674712T>C g.38633221T>C SCN5A(NM_001099404.2):c.87A>G (p.A29=), SCN5A(NM_198056.2):c.87A>G (p.A29=) - SCN5A_000835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.87A>G r.(?) p.(Ala29=) - benign g.38674712T>C g.38633221T>C SCN5A(NM_001099404.2):c.87A>G (p.A29=), SCN5A(NM_198056.2):c.87A>G (p.A29=) - SCN5A_000835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.87A>G r.(?) p.(Ala29=) - benign g.38674712T>C g.38633221T>C SCN5A(NM_001099404.2):c.87A>G (p.A29=), SCN5A(NM_198056.2):c.87A>G (p.A29=) - SCN5A_000835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 c.87G>A r.(?) p.(?) - benign g.38674712C>T - G87A - SCN5A_000889 data from Inherited Arrhythmias web site (variantchecker): G not found at position 281, found A instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Chen 2004 - - Germline - - - - - Johan den Dunnen
-/. 2 c.87G>A r.(?) p.(?) - benign g.38674712C>T - G87A - SCN5A_000889 data from Inherited Arrhythmias web site (variantchecker): G not found at position 281, found A instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aydin 2005 - - Germline - - - - - Johan den Dunnen
-/. 2 c.100C>T r.(?) p.(Arg34Cys) - benign g.38674699G>A g.38633208G>A C100T - SCN5A_000340 data from Inherited Arrhythmias web site PubMed: Yang 2002;http://circ.ahajournals.org/cgi/content/abstract/105/16/1943 - - Germline - - - - - Johan den Dunnen
-/. 2 c.100C>T r.(?) p.(Arg34Cys) - benign g.38674699G>A g.38633208G>A C100T - SCN5A_000340 data from Inherited Arrhythmias web site PubMed: Mank-Seymour 2006 - rs6791924 Germline - - - - - Johan den Dunnen
-/. - c.100C>T r.(?) p.(Arg34Cys) - benign g.38674699G>A g.38633208G>A SCN5A(NM_000335.5):c.100C>T (p.(Arg34Cys)), SCN5A(NM_198056.2):c.100C>T (p.R34C), SCN5A(NM_198056.3):c.100C>T (p.R34C) - SCN5A_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.100C>T r.(?) p.(Arg34Cys) - benign g.38674699G>A g.38633208G>A SCN5A(NM_000335.5):c.100C>T (p.(Arg34Cys)), SCN5A(NM_198056.2):c.100C>T (p.R34C), SCN5A(NM_198056.3):c.100C>T (p.R34C) - SCN5A_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.100C>T r.(?) p.(Arg34Cys) - benign g.38674699G>A g.38633208G>A SCN5A(NM_000335.5):c.100C>T (p.(Arg34Cys)), SCN5A(NM_198056.2):c.100C>T (p.R34C), SCN5A(NM_198056.3):c.100C>T (p.R34C) - SCN5A_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.100C>T r.(?) p.(Arg34Cys) - benign g.38674699G>A - SCN5A(NM_000335.5):c.100C>T (p.(Arg34Cys)), SCN5A(NM_198056.2):c.100C>T (p.R34C), SCN5A(NM_198056.3):c.100C>T (p.R34C) - SCN5A_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.101G>A r.(?) p.(Arg34His) - VUS g.38674698C>T g.38633207C>T - - SCN5A_001296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.102C>T r.(?) p.(Arg34=) - benign g.38674697G>A - SCN5A(NM_198056.3):c.102C>T (p.R34=) - SCN5A_001504 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 c.104dup r.? p.(Ser36Leufs*53) - pathogenic (dominant) g.38674696dup g.38633205dup - - SCN5A_001472 - - - - Germline yes - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.113C>T r.(?) p.(Thr38Ile) - VUS g.38674686G>A - SCN5A(NM_198056.3):c.113C>T (p.T38I) - SCN5A_001401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.127C>T r.(?) p.(Arg43*) - pathogenic g.38674672G>A - SCN5A(NM_198056.3):c.127C>T (p.R43*) - SCN5A_001520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.128G>C r.(?) p.(Arg43Pro) - VUS g.38674671C>G g.38633180C>G - - SCN5A_001294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.142G>A r.(?) p.(Glu48Lys) - VUS g.38674657C>T g.38633166C>T SCN5A(NM_198056.3):c.142G>A (p.E48K) - SCN5A_001293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.142G>A r.(?) p.(Glu48Lys) ACMG VUS g.38674657C>T g.38633166C>T - - SCN5A_001293 - - - rs199473048 Germline - - - - - Andreas Laner
?/. - c.142G>A r.(?) p.(Glu48Lys) - VUS g.38674657C>T - SCN5A(NM_198056.3):c.142G>A (p.E48K) - SCN5A_001293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.154C>T r.(?) p.(Pro52Ser) - VUS g.38674645G>A g.38633154G>A SCN5A(NM_198056.3):c.154C>T (p.P52S) - SCN5A_001292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.155C>A r.(?) p.(Pro52His) - VUS g.38674644G>T g.38633153G>T - - SCN5A_001345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.157C>T r.(?) p.(Arg53Trp) - VUS g.38674642G>A g.38633151G>A SCN5A(NM_001099404.2):c.157C>T (p.R53W) - SCN5A_001131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.157C>T r.(?) p.(Arg53Trp) - VUS g.38674642G>A - SCN5A(NM_001099404.2):c.157C>T (p.R53W) - SCN5A_001131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.158G>A r.(?) p.(Arg53Gln) - VUS g.38674641C>T - SCN5A(NM_198056.3):c.158G>A (p.R53Q) - SCN5A_001466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 c.191_193del r.(?) p.(Leu64del) - pathogenic g.38674608_38674610del g.38633117_38633119del 191_193delTGC - SCN5A_000663 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
+?/. - c.193C>T r.(?) p.(Pro65Ser) - VUS g.38674606G>A g.38633115G>A NM_000335.5:c.193C>T - SCN5A_001552 - PubMed: Mansoorshahi 2024 - rs1202614416 Germline - - - - - Johan den Dunnen
?/. - c.209A>G r.(?) p.(Asn70Ser) - VUS g.38674590T>C - SCN5A(NM_198056.3):c.209A>G (p.N70S) - SCN5A_001519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 c.210T>G r.(?) p.(Asn70Lys) - pathogenic g.38674589A>C g.38633098A>C T210G - SCN5A_000662 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.210T>G r.(?) p.(Asn70Lys) - VUS g.38674589A>C g.38633098A>C SCN5A(NM_001099404.2):c.210T>G (p.N70K) - SCN5A_000662 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.210T>G r.(?) p.(Asn70Lys) - VUS g.38674589A>C g.38633098A>C SCN5A(NM_001099404.2):c.210T>G (p.N70K) - SCN5A_000662 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.210T>G r.(?) p.(Asn70Lys) ACMG VUS g.38674589A>C g.38633098A>C - - SCN5A_000662 ACMG: PM2,PP5 - - rs199473050 Germline - - - - - Andreas Laner
+/. 2 c.217C>T r.(?) p.(Gln73*) - pathogenic g.38674582G>A g.38633091G>A C217T - SCN5A_000661 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
+?/. 2 c.246C>G r.(?) p.(Asp82Glu) - VUS g.38674553G>C - - - SCN5A_001469 - - - - Unknown - - beatrice.alessandrini - - Beatrice Alessandrini
+/. 2 c.250G>A r.(?) p.(Asp84Asn) - pathogenic g.38674549C>T g.38633058C>T G250A - SCN5A_000660 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
+/. 2 c.253G>A r.(?) p.(?) - pathogenic g.38674546C>T g.38633055C>T G253A - SCN5A_000659 data from Inherited Arrhythmias web site (variantchecker): G not found at position 447, found C instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Levy-Nissenmaum 2001 - - Germline - - - - - Johan den Dunnen
?/. - c.262A>G r.(?) p.(Ser88Gly) - VUS g.38674537T>C g.38633046T>C - - SCN5A_001291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.273G>C r.(?) p.(Lys91Asn) - VUS g.38674526C>G - SCN5A(NM_000335.5):c.273G>C (p.(Lys91Asn)) - SCN5A_001576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.273+7A>G r.(=) p.(=) - benign g.38674519T>C g.38633028T>C SCN5A(NM_001099404.2):c.273+7A>G - SCN5A_001129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.273+51G>A r.(=) p.(=) - benign g.38674475C>T g.38632984C>T SCN5A(NM_001099404.1):c.273+51G>A - SCN5A_001128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.273+51G>A r.(=) p.(=) - benign g.38674475C>T g.38632984C>T SCN5A(NM_001099404.1):c.273+51G>A - SCN5A_001128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.274-25G>A r.(=) p.(=) - benign g.38671945C>T g.38630454C>T SCN5A(NM_001099404.1):c.274-25G>A - SCN5A_001127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.274-25_274-24delinsAT r.(=) p.(=) - benign g.38671944_38671945delinsAT g.38630453_38630454delinsAT SCN5A(NM_198056.2):c.274-25_274-24delGCinsAT - SCN5A_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.274-24C>T r.(=) p.(=) - likely benign g.38671944G>A g.38630453G>A SCN5A(NM_001099404.1):c.274-24C>T - SCN5A_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.274-24C>T r.(=) p.(=) - benign g.38671944G>A g.38630453G>A SCN5A(NM_001099404.1):c.274-24C>T - SCN5A_001125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.274-18G>T r.(=) p.(=) - likely benign g.38671938C>A g.38630447C>A - - SCN5A_001344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.275C>T r.(?) p.(Thr92Ile) - VUS g.38671919G>A g.38630428G>A - - SCN5A_000803 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
+/. 3 c.278T>C r.(?) p.(Phe93Ser) - pathogenic g.38671916A>G g.38630425A>G T278C - SCN5A_000658 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 c.281T>G r.(?) p.(Ile94Ser) - pathogenic g.38671913A>C g.38630422A>C T281G - SCN5A_000657 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 c.283G>A r.(?) p.(Val95Ile) - pathogenic g.38671911C>T g.38630420C>T V95I - SCN5A_000811 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database PubMed: Linag 2006 - - Germline - - - - - Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(?) - pathogenic g.38671905C>A - G289T - SCN5A_000888 data from Inherited Arrhythmias web site (variantchecker): G not found at position 483, found A instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Ackerman 2001 - - Germline - - - - - Johan den Dunnen
-/. - c.300G>A r.(?) p.(Lys100=) - benign g.38671894C>T g.38630403C>T SCN5A(NM_001099404.2):c.300G>A (p.K100=) - SCN5A_001124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 c.310C>T r.(?) p.(Arg104Trp) - pathogenic g.38671884G>A g.38630393G>A C310T - SCN5A_000656 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 c.311G>A r.(?) p.(Arg104Gln) - pathogenic g.38671883C>T g.38630392C>T G311A - SCN5A_000655 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
+/. - c.311G>A r.(?) p.(Arg104Gln) - pathogenic g.38671883C>T g.38630392C>T - - SCN5A_000655 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.311G>A r.(?) p.(Arg104Gln) ACMG likely pathogenic g.38671883C>T g.38630392C>T - - SCN5A_000655 ACMG: PS1_moderat, PS3_m,PM1,PM2,PM5,PP3 - - - Germline ? - - - - Andreas Laner
+/. - c.311G>A r.(?) p.(Arg104Gln) ACMG pathogenic g.38671883C>T g.38630392C>T - - SCN5A_000655 ACMG: PP3,PS1,PM2,PM5,PS3; p.Arg104Gln (R104Q) CGG>CAG: c.311 G>A in exon 3 of the SCN5A gene (NM _198056.2) The R104Q mutation in th e SCN5A gene has been reported in o ne Moroccan individual with Brugada syndrome who had a family history of Brugada syndrome in two siblings (Levy-Nissenbaum E et al., 2001). Furthermore, in vitro studies in a mammalian expression system showed that R104Q did not result in a func tional sodium channel (Gutter C et al., 2013). R104Q is a non-conserva tive amino acid substitution as the se residues differ in polarity, cha rge, size and/or other properties a nd is more likely to impact seconda ry structure. The R104 residue is h ighly conserved across species (Lev y-Nissenbaum E et al., 2001). Mutat ions in the same residue (R104G, R1 04W) and in nearby residues (V95I, N109K) have been reported in associ ation with arrhythmia, further supp orting the functional importance of this residue and this region of th e protein. Additionally, the R104Q mutation was not observed in approx imately 6500 individuals of Europea n and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common beni gn variant in these populations. Th e variant is found in CARDIOMYOPATH Y panel(s).; Gütter et al. 2013. Front Physiol 4: 153; Levy-Nissenbaum et al. 2001. Genet Test 5: 331 - - rs199473554 Germline - - - - - Andreas Laner
?/. - c.326A>G r.(?) p.(Asn109Ser) - VUS g.38671868T>C g.38630377T>C SCN5A(NM_198056.3):c.326A>G (p.N109S) - SCN5A_001123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 c.327C>A r.(?) p.(Asn109Lys) - pathogenic g.38671867G>T g.38630376G>T C327A - SCN5A_000654 data from Inherited Arrhythmias web site PubMed: Kapplinger 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.327C>A r.(?) p.(Asn109Lys) - VUS g.38671867G>T - - - SCN5A_000654 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.327C>T r.(?) p.(Asn109=) - likely benign g.38671867G>A g.38630376G>A SCN5A(NM_001099404.1):c.327C>T (p.N109=), SCN5A(NM_001099404.2):c.327C>T (p.N109=), SCN5A(NM_198056.2):c.327C>T (p.N109=), SCN5A(NM_198056.3):c.327... - SCN5A_001122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.327C>T r.(?) p.(Asn109=) - likely benign g.38671867G>A g.38630376G>A SCN5A(NM_001099404.1):c.327C>T (p.N109=), SCN5A(NM_001099404.2):c.327C>T (p.N109=), SCN5A(NM_198056.2):c.327C>T (p.N109=), SCN5A(NM_198056.3):c.327... - SCN5A_001122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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