Full data view for gene SCN4A

Information The variants shown are described using the NM_000334.4 transcript reference sequence.

968 entries on 10 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.92G>T r.(?) p.(Arg31Leu) Unknown - likely benign g.62050110C>A g.63972750C>A SCN4A(NM_000334.4):c.92G>T (p.(Arg31Leu)) - SCN4A_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118C>T r.(?) p.(Gln40Ter) Unknown - VUS g.62050084G>A g.63972724G>A SCN4A(NM_000334.4):c.118C>T (p.?) - SCN4A_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.201G>C r.(?) p.(Arg67Pro) Unknown - pathogenic g.62050001C>G g.63972641C>G - - SCN4A_000024 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-?/. - c.241G>C r.(?) p.(Glu81Gln) Unknown - likely benign g.62049961C>G g.63972601C>G SCN4A(NM_000334.4):c.241G>C (p.(Glu81Gln)) - SCN4A_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.248T>C r.(?) p.(Leu83Pro) Unknown - likely benign g.62049954A>G g.63972594A>G SCN4A(NM_000334.4):c.248T>C (p.L83P) - SCN4A_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.311G>A r.(?) p.(Arg104His) Parent #1 - pathogenic (recessive) g.62049793C>T g.63972433C>T - - SCN4A_000249 - PubMed: Zaharieva 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Fam1PatII1 PubMed: Zaharieva 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
?/. - c.314T>C r.(?) p.(Phe105Ser) Unknown - VUS g.62049790A>G g.63972430A>G SCN4A(NM_000334.4):c.314T>C (p.(Phe105Ser)) - SCN4A_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319G>A r.(?) p.(Ala107Thr) Unknown - VUS g.62049785C>T g.63972425C>T - - SCN4A_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.355G>A r.(?) p.(Val119Ile) Parent #1 - VUS g.62049749C>T g.63972389C>T - - SCN4A_000001 PolyPhen-2: benign (PSIC:0.001) - - rs41280110 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 2 c.355G>A r.(?) p.(Val119Ile) Unknown - VUS g.62049749C>T g.63972389C>T - - SCN4A_000001 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-?/. - c.355G>A r.(?) p.(Val119Ile) Unknown - likely benign g.62049749C>T g.63972389C>T SCN4A(NM_000334.4):c.355G>A (p.V119I) - SCN4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355G>A r.(?) p.(Val119Ile) Unknown - likely benign g.62049749C>T - SCN4A(NM_000334.4):c.355G>A (p.V119I) - SCN4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.364C>T r.(?) p.(Arg122Cys) Unknown - likely pathogenic g.62049740G>A g.63972380G>A - - SCN4A_000245 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
-/. - c.366C>T r.(=) p.(=) Parent #1 - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - - - rs41280108 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - - - rs41280108 Germline - - - 0 - DNA SEQ - - ? - - - - - (Germany) - - 0 - - 1 Birgit Neitzel
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 2 c.366C>T r.(?) p.(Arg122Arg) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 - Leiden, unpublished - rs41280108 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/. - c.366C>T r.(?) p.(Arg122=) Unknown - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.392+25C>T r.(=) p.(=) Parent #1 - benign g.62049687G>A g.63972327G>A - - SCN4A_000053 - - - rs141799189 Germline - - - 0 - DNA SEQ - - myopathy, mitochondrial - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 2i c.392+25C>T r.(?) p.(=) Unknown - VUS g.62049687G>A g.63972327G>A - - SCN4A_000053 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
?/. 2i c.392+25C>T r.(?) p.(=) Unknown - VUS g.62049687G>A g.63972327G>A - - SCN4A_000053 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - myotonia congenita, autosomal dominant (Thomsen disease) - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
?/. - c.392+31G>C r.(=) p.(=) Parent #1 - VUS g.62049681C>G g.63972321C>G - - SCN4A_000119 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.393-6C>A r.(=) p.(=) Unknown - likely benign g.62049591G>T g.63972231G>T SCN4A(NM_000334.4):c.393-6C>A - SCN4A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.403A>C r.(?) p.(Met135Leu) Unknown - likely benign g.62049575T>G g.63972215T>G SCN4A(NM_000334.4):c.403A>C (p.M135L) - SCN4A_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404T>C r.(?) p.(Met135Thr) Unknown - likely benign g.62049574A>G g.63972214A>G SCN4A(NM_000334.4):c.404T>C (p.M135T) - SCN4A_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.421A>G r.(?) p.(Ile141Val) Parent #1 - pathogenic g.62049557T>C g.63972197T>C - - SCN4A_000118 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.443T>C r.(?) p.(Met148Thr) Parent #1 - VUS g.62049535A>G g.63972175A>G - - SCN4A_000117 mother and son: segregation analysis - - - Germline - - - 0 - DNA SEQ - - myopathy, mitochondrial - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 3i c.483-25C>T r.(?) p.(=) Unknown - VUS g.62049235G>A g.63971875G>A - - SCN4A_000003 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
?/. 3i c.483-25C>T r.(?) p.(=) Unknown - VUS g.62049235G>A g.63971875G>A - - SCN4A_000003 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HOKPP - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
?/. 3i c.483-25C>T r.(?) p.(=) Unknown - VUS g.62049235G>A g.63971875G>A - - SCN4A_000003 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. Carle [2006] - - Germline - - - 0 - DNA SEQ - - PMC - Carle [2006] Treatment with a perfusion of KCl induced full recovery of the skeletal muscle function, and normalization of kalemia within a day. - - - - - 0 - - 1 Vincent Janmaat
-/. 3i c.483-25T>C r.(=) p.(=) Parent #1 - benign g.62049235A>G g.63971875A>G - - SCN4A_000098 - - - rs9892013 Germline - - - 0 - DNA SEQ - - ? - - - - - (Germany) - - 0 - - 1 Birgit Neitzel
?/. - c.483-5C>G r.spl? p.? Unknown - VUS g.62049215G>C - SCN4A(NM_000334.4):c.483-5C>G - SCN4A_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.489C>G r.(?) p.(Thr163Thr) Unknown - VUS g.62049204G>C g.63971844G>C - - SCN4A_000106 unclassified variant - - - Germline - - - 0 - DNA SEQ - - ? - - - - - (Germany) - - 0 - - 1 Birgit Neitzel
-/. - c.489C>G r.(?) p.(Thr163=) Unknown - benign g.62049204G>C g.63971844G>C - - SCN4A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.497G>A r.(?) p.(Gly166Glu) Unknown - likely pathogenic g.62049196C>T g.63971836C>T - - SCN4A_000244 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+/. - c.608T>A r.(?) p.(Met203Lys) Parent #2 - pathogenic (recessive) g.62049085A>T g.63971725A>T - - SCN4A_000248 - PubMed: Zaharieva 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES ? Fam6PatII1 PubMed: Zaharieva 2016 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents F no Australia white <0d 0 - - 3 Johan den Dunnen
+/. - c.608T>A r.(?) p.(Met203Lys) Parent #2 - pathogenic (recessive) g.62049085A>T g.63971725A>T - - SCN4A_000248 - PubMed: Zaharieva 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES ? Fam6PatII2 PubMed: Zaharieva 2016 sister F no Australia white <0d 0 - - 1 Johan den Dunnen
+/. - c.608T>A r.(?) p.(Met203Lys) Parent #2 - pathogenic (recessive) g.62049085A>T g.63971725A>T - - SCN4A_000248 - PubMed: Zaharieva 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES ? Fam6PatII3 PubMed: Zaharieva 2016 fetus - no Australia white <0d 0 - - 1 Johan den Dunnen
?/. - c.612-35C>G r.(=) p.(=) Parent #1 - VUS g.62048648G>C g.63971288G>C - - SCN4A_000116 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. 5 c.644T>C r.(?) p.(Ile215Thr) Unknown - likely pathogenic g.62048581A>G g.63971221A>G - - SCN4A_000221 - - - - Germline - - - 0 - DNA SEQ - - - Raffaella Brugnoni - - - - Italy - - 0 - - 1 Raffaella Brugnoni
+/. 5 c.644T>C r.(?) p.(Ile215Thr) Unknown - likely pathogenic g.62048581A>G g.63971221A>G - - SCN4A_000221 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Raffaella Brugnoni
+/. - c.664C>T r.(?) p.(Arg222Trp) Parent #1 - pathogenic g.62048561G>A g.63971201G>A - - SCN4A_000115 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.673C>T r.(?) p.(Arg225Trp) Unknown - likely pathogenic g.62048552G>A g.63971192G>A - - SCN4A_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.673C>T r.(?) p.(Arg225Trp) Parent #1 - pathogenic (recessive) g.62048552G>A g.63971192G>A - - SCN4A_000181 - PubMed: Zaharieva 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Fam2PatII1 PubMed: Zaharieva 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Denmark white - 0 - - 1 Johan den Dunnen
?/. - c.679C>T r.(?) p.(Leu227Phe) Unknown - VUS g.62048546G>A g.63971186G>A - - SCN4A_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HOKPP - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Paternal (confirmed) - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Maternal (confirmed) - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Schoser [2007] - - Germline - - - 0 - DNA SEQ - - ? - Schoser [2007] The myotonia becomes more severe with aging - - - - - 0 - - 1 Vincent Janmaat
-/- 5i c.703+55C>T r.(?) p.(=) Unknown - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 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. Wang [1995] - - Germline - - - 0 - DNA SEQ - - ? - Wang [1995] - - - - - - 0 - - 1 Vincent Janmaat
-/. 5i c.703+55T>C r.(=) p.(=) Parent #1 - benign g.62048467A>G g.63971107A>G - - SCN4A_000099 - - - rs2302236 Germline - - - 0 - DNA SEQ - - ? - - - - - (Germany) - - 0 - - 1 Birgit Neitzel
?/. 6 c.704-95A>G r.(?) p.(=) Unknown - VUS g.62045810T>C g.63968450T>C - - SCN4A_000005 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
+?/. 6 c.716T>G r.(?) p.(Ile239Ser) Unknown - likely pathogenic g.62045703A>C g.63968343A>C - - SCN4A_000223 - - - - Germline yes - - 0 - DNA SEQ - - myotonia, potassium-aggravated - - - M no Italy white - 0 - - 5 Raffaella Brugnoni
+/+ 6 c.748C>G r.(?) p.(Leu250Val) Unknown - pathogenic g.62045671G>C g.63968311G>C - - SCN4A_000006 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
+/+ 6 c.749T>C r.(?) p.(Leu250Pro) Unknown - pathogenic g.62045670A>G g.63968310A>G - - SCN4A_000007 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
+/+ 6 c.749T>C r.(?) p.(Leu250Pro) Unknown - pathogenic g.62045670A>G g.63968310A>G - - SCN4A_000007 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
?/. - c.787G>A r.(?) p.(Val263Ile) Unknown ACMG VUS g.62045632C>T - - - SCN4A_000250 ACMG: PM1, PM2, PP3: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - SIDS 155454 - submission for publication Schoen et al.; 2021: sudden unexplained death ? ? Germany - - 0 - - 1 Andreas Laner
+/+ 6 c.796C>G r.(?) p.(Leu266Val) Unknown - pathogenic g.62045623G>C g.63968263G>C - - SCN4A_000008 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
+?/. 6 c.825C>A r.(?) p.(Asn275Lys) Unknown - likely pathogenic g.62045594G>T g.63968234G>T - - SCN4A_000226 - - - - Germline yes - - 0 - DNA SEQ - - myotonia, potassium-aggravated - - - F no Italy - - 0 - 1 1 Raffaella Brugnoni
-/. - c.864C>T r.(=) p.(=) Parent #1 - benign g.62045555G>A g.63968195G>A - - SCN4A_000114 - - - rs7218917 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/- 6 c.864C>T r.(?) p.(Asn288Asn) Unknown - benign g.62045555G>A g.63968195G>A - - SCN4A_000009 - Leiden, unpublished - rs7218917 Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 6 c.864C>T r.(?) p.(Asn288Asn) Unknown - benign g.62045555G>A g.63968195G>A - - SCN4A_000009 - Leiden, unpublished - rs7218917 Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 6 c.864C>T r.(?) p.(Asn288Asn) Unknown - benign g.62045555G>A g.63968195G>A - - SCN4A_000009 - Leiden, unpublished - rs7218917 Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 6 c.864C>T r.(?) p.(Asn288Asn) Unknown - benign g.62045555G>A g.63968195G>A - - SCN4A_000009 - Leiden, unpublished - rs7218917 Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-/- 6 c.864C>T r.(?) p.(Asn288Asn) Unknown - benign g.62045555G>A g.63968195G>A - - SCN4A_000009 - Bonhours [2003] - rs7218917 Germline - - - 0 - DNA SEQ - - ? - Bonhours [2003] Slow inactivation is enhanced. - - - - - 0 - - 1 Vincent Janmaat
-/. - c.864C>T r.(?) p.(Asn288=) Unknown - benign g.62045555G>A g.63968195G>A - - SCN4A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.864C>T r.(=) p.(=) Both (homozygous) - benign g.62045555G>A g.63968195G>A - - SCN4A_000009 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7218917 Germline - 8/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 8 Mohammed Faruq
-?/. - c.952T>C r.(?) p.(Trp318Arg) Unknown - likely benign g.62045467A>G g.63968107A>G - - SCN4A_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.957T>G r.(?) p.(Tyr319Ter) Unknown - VUS g.62045462A>C g.63968102A>C SCN4A(NM_000334.4):c.957T>G (p.(Tyr319Ter)) - SCN4A_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.968C>T r.(?) p.(Thr323Met) Parent #1 - VUS g.62045451G>A g.63968091G>A - - SCN4A_000113 - - - rs80338952 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 6 c.968C>T r.(?) p.(Thr323Met) Unknown - VUS g.62045451G>A g.63968091G>A - - SCN4A_000010 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
-?/. - c.968C>T r.(?) p.(Thr323Met) Unknown - likely benign g.62045451G>A - SCN4A(NM_000334.4):c.968C>T (p.(Thr323Met)) - SCN4A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 7i c.1100+7G>A r.(?) p.(=) Unknown - benign g.62043834C>T g.63966474C>T - - SCN4A_000011 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - 0 - - 1 Vincent Janmaat
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