Unique variants in the SCN4A gene

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

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

Reported     

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     
-?/. 1 - c.92G>T r.(?) p.(Arg31Leu) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.118C>T r.(?) p.(Gln40Ter) - VUS g.62050084G>A g.63972724G>A SCN4A(NM_000334.4):c.118C>T (p.?) - SCN4A_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 1 c.201G>C r.(?) p.(Arg67Pro) - pathogenic g.62050001C>G g.63972641C>G - - SCN4A_000024 1 more item Leiden, unpublished - - Germline - - - - - Vincent Janmaat
-?/. 1 - c.241G>C r.(?) p.(Glu81Gln) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.248T>C r.(?) p.(Leu83Pro) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 - c.311G>A r.(?) p.(Arg104His) - pathogenic (recessive) g.62049793C>T g.63972433C>T - - SCN4A_000249 - PubMed: Zaharieva 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.314T>C r.(?) p.(Phe105Ser) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.319G>A r.(?) p.(Ala107Thr) - VUS g.62049785C>T g.63972425C>T - - SCN4A_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 4 2 c.355G>A r.(?) p.(Val119Ile) - likely benign, VUS g.62049749C>T g.63972389C>T SCN4A(NM_000334.4):c.355G>A (p.V119I) - SCN4A_000001 PolyPhen-2: benign (PSIC:0.001), VKGL data sharing initiative Nederland Leiden, unpublished - rs41280110 CLASSIFICATION record, Germline - - - - - Andreas Laner, Vincent Janmaat, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+?/. 1 - c.364C>T r.(?) p.(Arg122Cys) - likely pathogenic g.62049740G>A g.63972380G>A - - SCN4A_000245 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
-/-, -/. 15 2 c.366C>T r.(=), r.(?) p.(=), p.(Arg122=), p.(Arg122Arg) - benign g.62049738G>A g.63972378G>A - - SCN4A_000002 VKGL data sharing initiative Nederland Leiden, unpublished - rs41280108 CLASSIFICATION record, Germline - - - - - Birgit Neitzel, Andreas Laner, Vincent Janmaat, VKGL-NL_Nijmegen
-/., ?/. 3 2i c.392+25C>T r.(=), r.(?) p.(=) - benign, VUS g.62049687G>A g.63972327G>A - - SCN4A_000053 - Leiden, unpublished - rs141799189 Germline - - - - - Andreas Laner, Vincent Janmaat
?/. 1 - c.392+31G>C r.(=) p.(=) - VUS g.62049681C>G g.63972321C>G - - SCN4A_000119 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.393-6C>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.403A>C r.(?) p.(Met135Leu) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.404T>C r.(?) p.(Met135Thr) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 - c.421A>G r.(?) p.(Ile141Val) - pathogenic g.62049557T>C g.63972197T>C - - SCN4A_000118 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.443T>C r.(?) p.(Met148Thr) - VUS g.62049535A>G g.63972175A>G - - SCN4A_000117 mother and son: segregation analysis - - - Germline - - - - - Andreas Laner
?/. 3 3i c.483-25C>T r.(?) p.(=) - VUS g.62049235G>A g.63971875G>A - - SCN4A_000003 1 more item Carle [2006], Leiden, unpublished - - Germline - - - - - Vincent Janmaat
-/. 1 3i c.483-25T>C r.(=) p.(=) - benign g.62049235A>G g.63971875A>G - - SCN4A_000098 - - - rs9892013 Germline - - - - - Birgit Neitzel
?/. 1 - c.483-5C>G r.spl? p.? - VUS g.62049215G>C - SCN4A(NM_000334.4):c.483-5C>G - SCN4A_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 4 c.489C>G r.(?) p.(Thr163=), p.(Thr163Thr) - benign, VUS g.62049204G>C g.63971844G>C - - SCN4A_000106 unclassified variant, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Birgit Neitzel, VKGL-NL_Nijmegen
+?/. 1 - c.497G>A r.(?) p.(Gly166Glu) - likely pathogenic g.62049196C>T g.63971836C>T - - SCN4A_000244 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
+/. 3 - c.608T>A r.(?) p.(Met203Lys) - pathogenic (recessive) g.62049085A>T g.63971725A>T - - SCN4A_000248 - PubMed: Zaharieva 2016 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.612-35C>G r.(=) p.(=) - VUS g.62048648G>C g.63971288G>C - - SCN4A_000116 - - - - Germline - - - - - Andreas Laner
+/., +?/. 2 5 c.644T>C r.(?) p.(Ile215Thr) - likely pathogenic g.62048581A>G g.63971221A>G - - SCN4A_000221 - - - - Germline - - - - - Raffaella Brugnoni
+/. 1 - c.664C>T r.(?) p.(Arg222Trp) - pathogenic g.62048561G>A g.63971201G>A - - SCN4A_000115 - - - - Germline - - - - - Andreas Laner
+/., +?/. 2 - c.673C>T r.(?) p.(Arg225Trp) - likely pathogenic, pathogenic (recessive) g.62048552G>A g.63971192G>A - - SCN4A_000181 VKGL data sharing initiative Nederland PubMed: Zaharieva 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 - c.679C>T r.(?) p.(Leu227Phe) - VUS g.62048546G>A g.63971186G>A - - SCN4A_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 22 5i c.703+55C>T r.(?) p.(=) - benign g.62048467G>A g.63971107G>A - - SCN4A_000004 1 more item Leiden, unpublished, Schoser [2007], Wang [1995] - - Germline - - - - - Vincent Janmaat
-/. 1 5i c.703+55T>C r.(=) p.(=) - benign g.62048467A>G g.63971107A>G - - SCN4A_000099 - - - rs2302236 Germline - - - - - Birgit Neitzel
?/. 1 6 c.704-95A>G r.(?) p.(=) - VUS g.62045810T>C g.63968450T>C - - SCN4A_000005 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+?/. 1 6 c.716T>G r.(?) p.(Ile239Ser) - likely pathogenic g.62045703A>C g.63968343A>C - - SCN4A_000223 - - - - Germline yes - - - - Raffaella Brugnoni
+/+ 1 6 c.748C>G r.(?) p.(Leu250Val) - pathogenic g.62045671G>C g.63968311G>C - - SCN4A_000006 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+ 2 6 c.749T>C r.(?) p.(Leu250Pro) - pathogenic g.62045670A>G g.63968310A>G - - SCN4A_000007 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
?/. 1 - c.787G>A r.(?) p.(Val263Ile) ACMG VUS g.62045632C>T - - - SCN4A_000250 ACMG: PM1, PM2, PP3: class 3 - - - Germline ? - - - - Andreas Laner
+/+ 1 6 c.796C>G r.(?) p.(Leu266Val) - pathogenic g.62045623G>C g.63968263G>C - - SCN4A_000008 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+?/. 1 6 c.825C>A r.(?) p.(Asn275Lys) - likely pathogenic g.62045594G>T g.63968234G>T - - SCN4A_000226 - - - - Germline yes - - - - Raffaella Brugnoni
-/-, -/. 8 6 c.864C>T r.(=), r.(?) p.(=), p.(Asn288=), p.(Asn288Asn) - benign g.62045555G>A g.63968195G>A - - SCN4A_000009, SCN4A_000114 8 homozygous; Clinindb (India), VKGL data sharing initiative Nederland Bonhours [2003], Leiden, unpublished, PubMed: Narang 2020, Journal: Narang 2020 - rs7218917 CLASSIFICATION record, Germline - 8/2795 individuals - - - Andreas Laner, Vincent Janmaat, VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.952T>C r.(?) p.(Trp318Arg) - likely benign g.62045467A>G g.63968107A>G - - SCN4A_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.957T>G r.(?) p.(Tyr319Ter) - 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 - - - - - VKGL-NL_Leiden
-?/., ?/. 3 6 c.968C>T r.(?) p.(Thr323Met) - likely benign, VUS g.62045451G>A g.63968091G>A SCN4A(NM_000334.4):c.968C>T (p.(Thr323Met)) - SCN4A_000010, SCN4A_000113 VKGL data sharing initiative Nederland Leiden, unpublished - rs80338952 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Leiden, Vincent Janmaat
-/-, -/., -?/. 6 7i c.1100+7G>A r.(=), r.(?) p.(=) - benign, likely benign g.62043834C>T g.63966474C>T SCN4A(NM_000334.4):c.1100+7G>A (p.(=)) - SCN4A_000011 VKGL data sharing initiative Nederland Leiden, unpublished - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Vincent Janmaat, VKGL-NL_Nijmegen
+/., +?/. 4 - c.1144C>A r.(?) p.(Pro382Thr) - likely pathogenic, pathogenic (recessive) g.62043560G>T g.63966200G>T - - SCN4A_000179 VKGL data sharing initiative Nederland PubMed: Zaharieva 2016 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/-, -/. 6 8 c.1167T>C r.(=), r.(?) p.(=), p.(Tyr389=) - benign g.62043537A>G g.63966177A>G Tyr389Tyr - SCN4A_000012, SCN4A_000132 VKGL data sharing initiative Nederland Leiden, unpublished - rs16947296 CLASSIFICATION record, Germline - - - - - Birgit Neitzel, Andreas Laner, Vincent Janmaat, VKGL-NL_Nijmegen
?/. 1 8 c.1207A>C r.(?) p.(Met403Leu) - VUS g.62043497T>G g.63966137T>G - - SCN4A_000013 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
-/- 95 8i c.1242+105G>C r.(?) p.(=) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Bendahhou [2000], Leiden, unpublished, Ptácek [1991], Sasaki [1999], Tsujino [2003] - - Germline - - - - - Vincent Janmaat
-/. 1 8i c.1243-41A>G r.(=) p.(=) - benign g.62042078T>C g.63964718T>C - - SCN4A_000100 - - - rs2877373 Germline - - - - - Birgit Neitzel
+/+, +/. 7 9 c.1333G>A r.(?) p.(Val445Met) - pathogenic g.62041947C>T g.63964587C>T - - SCN4A_000015, SCN4A_000131 VKGL data sharing initiative Nederland Leiden, unpublished - rs121908552 CLASSIFICATION record, Germline - - - - - Andreas Laner, Vincent Janmaat, VKGL-NL_Nijmegen
+?/. 1 9 c.1333G>T r.(?) p.(Val445Leu) - likely pathogenic g.62041947C>A g.63964587C>A - - SCN4A_000225 - - - - Germline yes - - - - Raffaella Brugnoni
?/. 1 9 c.1354G>A r.(?) p.(Glu452Lys) - VUS g.62041926C>T g.63964566C>T - - SCN4A_000219 - - - rs372631097 Germline/De novo (untested) - - - - - Clinique des maladies neuromusculaires
?/. 1 - c.1364A>C r.(?) p.(Glu455Ala) - VUS g.62041916T>G g.63964556T>G SCN4A(NM_000334.4):c.1364A>C (p.E455A) - SCN4A_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.1408C>T r.(?) p.(Gln470*), p.(Gln470Ter) - likely pathogenic, pathogenic (recessive) g.62041872G>A g.63964512G>A - - SCN4A_000178 VKGL data sharing initiative Nederland PubMed: Zaharieva 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.1413G>A r.(?) p.(Met471Ile) - likely benign g.62041867C>T g.63964507C>T SCN4A(NM_000334.4):c.1413G>A (p.M471I) - SCN4A_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 6 9i c.1453-23C>T r.(=), r.(?) p.(=) - benign, VUS g.62041208G>A g.63963848G>A - - SCN4A_000016, SCN4A_000130 unclassified variant Leiden, unpublished - rs75168694 Germline - - - - - Birgit Neitzel, Andreas Laner, Vincent Janmaat
-?/. 1 - c.1453-4A>G r.spl? p.? - likely benign g.62041189T>C g.63963829T>C SCN4A(NM_000334.4):c.1453-4A>G (p.?) - SCN4A_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 - c.1462G>A r.(?) p.(Ala488Thr) - likely benign, VUS g.62041176C>T g.63963816C>T SCN4A(NM_000334.4):c.1462G>A (p.A488T, p.(Ala488Thr)) - SCN4A_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 5 10 c.1570A>G r.(?) p.(Ser524Gly) - benign g.62041068T>C g.63963708T>C SCN4A(NM_000334.4):c.1570A>G (p.S524G) - SCN4A_000093 VKGL data sharing initiative Nederland - - rs6504191 CLASSIFICATION record, Germline - - - - - Birgit Neitzel, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/- 12 10 c.1570G>A r.(?) p.(Gly524Ser) - benign g.62041068C>T g.63963708C>T - - SCN4A_000017 1 more item Bendahhou [2000], Leiden, unpublished - - Germline - - - - - Vincent Janmaat
-/. 2 - c.1606+20G>A r.(=) p.(=) - benign g.62041012C>T g.63963652C>T - - SCN4A_000129 VKGL data sharing initiative Nederland - - rs73326363 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
+?/., ?/. 2 - c.1762A>G r.(?) p.(Ile588Val) ACMG likely pathogenic, VUS g.62038636T>C g.63961276T>C - - SCN4A_000128 ACMG: PS3,PM2,PP3, PolyPhen-2. benign (PSIC:0.443) - - - Germline - - - - - Andreas Laner
?/. 3 - c.1796A>G r.(?) p.(His599Arg) - VUS g.62038602T>C g.63961242T>C SCN4A(NM_000334.4):c.1796A>G (p.H599R) - SCN4A_000127 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs187401185 CLASSIFICATION record, Germline - 7/2794 individuals - - - Andreas Laner, VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.1844T>G r.(?) p.(Leu615Arg) - likely benign g.62038554A>C g.63961194A>C SCN4A(NM_000334.4):c.1844T>G (p.(Leu615Arg)) - SCN4A_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1845+2T>G r.spl? p.? - likely benign g.62038551A>C g.63961191A>C SCN4A(NM_000334.4):c.1845+2T>G (p.?) - SCN4A_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1845+3A>G r.spl? p.? - likely benign g.62038550T>C g.63961190T>C SCN4A(NM_000334.4):c.1845+3A>G (, p.?) - SCN4A_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1845+7A>G r.(=) p.(=) - likely benign g.62038546T>C g.63961186T>C SCN4A(NM_000334.4):c.1845+7A>G (p.(=)) - SCN4A_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1845+7A>T r.(=) p.(=) - likely benign g.62038546T>A g.63961186T>A SCN4A(NM_000334.4):c.1845+7A>T (p.(=)) - SCN4A_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 12 c.1846-25dup r.(=) p.(=) - VUS g.62036823dup g.63959463dup - - SCN4A_000018 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+, +/. 2 12 c.2006G>A r.(?) p.(Arg669His) - pathogenic g.62036638C>T g.63959278C>T - - SCN4A_000019 VKGL data sharing initiative Nederland Leiden, unpublished - - CLASSIFICATION record, Germline - - - - - Vincent Janmaat, VKGL-NL_Nijmegen
+/+ 2 12 c.2014C>A r.(?) p.(Arg672Ser) - pathogenic g.62036630G>T g.63959270G>T - - SCN4A_000020 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+, +/. 2 12 c.2014C>G r.(?) p.(Arg672Gly) - pathogenic g.62036630G>C g.63959270G>C - - SCN4A_000021 VKGL data sharing initiative Nederland Leiden, unpublished - - CLASSIFICATION record, Germline - - - - - Vincent Janmaat, VKGL-NL_Nijmegen
+/+, +/. 8 12 c.2014C>T r.(?) p.(Arg672Cys) - pathogenic g.62036630G>A g.63959270G>A - - SCN4A_000022, SCN4A_000126 - Kim 2004 Neuromuscul Disord 14, 727, Leiden, unpublished, Lerche [1993] - - Germline - - - - - Birgit Neitzel, Andreas Laner, Vincent Janmaat
+/+, +/. 4 12 c.2015G>A r.(?) p.(Arg672His) ACMG pathogenic g.62036629C>T g.63959269C>T - - SCN4A_000023 1 more item Leiden, unpublished - rs80338788 Germline - - - - - Andreas Laner, Vincent Janmaat
+/+ 1 13 c.2023C>G r.(?) p.(Arg675Gly) - pathogenic g.62034875G>C g.63957515G>C - - SCN4A_000025 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+ 1 13 c.2024C>T r.(?) p.(Arg675Trp) - pathogenic g.62034874G>A g.63957514G>A - - SCN4A_000026 1 more item Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+ 1 13 c.2024G>A r.(?) p.(Arg675Gln) - pathogenic g.62034874C>T g.63957514C>T - - SCN4A_000027 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+ 1 13 c.2065C>A r.(?) p.(Leu689Ile) - pathogenic g.62034833G>T g.63957473G>T - - SCN4A_000028 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+ 1 13 c.2065C>G r.(?) p.(Leu689Val) - pathogenic g.62034833G>C g.63957473G>C - - SCN4A_000029 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/+ 3 13 c.2065C>T r.(?) p.(Leu689Phe) - pathogenic g.62034833G>A g.63957473G>A - - SCN4A_000030 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
+/., +?/. 2 13 c.2076C>G r.(?) p.(Ile692Met) ACMG likely pathogenic, pathogenic g.62034822G>C g.63957462G>C - - SCN4A_000224 ACMG: PS3,PM1,PM2,PP1,PP3; Fan et al. 2017. Clin Genet 91: 859-67 - - - Germline yes - - - - Andreas Laner, Raffaella Brugnoni
+/+, +/. 3 13 c.2078T>C r.(?) p.(Ile693Thr) - pathogenic g.62034820A>G g.63957460A>G - - SCN4A_000031, SCN4A_000125 - Leiden, unpublished - - Germline - - - - - Andreas Laner, Vincent Janmaat
+?/., ?/. 3 13 c.2108T>C r.(2108u>c), r.(?) p.(Leu703Pro) - likely pathogenic, VUS g.62034790A>G g.63957430A>G - - SCN4A_000032, SCN4A_000124 PolyPhen-2: Probably Damaging Leiden, unpublished - - De novo, Germline - - - - - Angela Abicht, Andreas Laner, Vincent Janmaat
+/+, +/., +?/. 10 13 c.2111C>T r.(?) p.(Thr704Met) - likely pathogenic, pathogenic g.62034787G>A g.63957427G>A - - SCN4A_000033, SCN4A_000123 combination of variants not reported, VKGL data sharing initiative Nederland, 1 more item Leiden, unpublished, PubMed: Topf 2020 - rs80338957 CLASSIFICATION record, Germline - 1/1001 cases - - - Johan den Dunnen, Andreas Laner, Vincent Janmaat, VKGL-NL_Nijmegen
?/. 1 - c.2120T>C r.(?) p.(Leu707Pro) - VUS g.62034778A>G g.63957418A>G - - SCN4A_000147 PolyPhen-2: probably damaging (PSIC: 1,0) - - - Germline - - - - - Andreas Laner
?/. 1 13 c.2188G>A r.(?) p.(Val730Met) - VUS g.62034710C>T g.63957350C>T - - SCN4A_000034 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
?/. 1 - c.2266C>T r.(?) p.(Arg756Cys) ACMG VUS g.62034632G>A g.63957272G>A - - SCN4A_000242 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - Gianina Ravenscroft
-/-, -/. 9 13 c.2289C>T r.(=), r.(?) p.(=), p.(Ile763=), p.(Ile763Ile) - benign g.62034609G>A g.63957249G>A - - SCN4A_000035, SCN4A_000146 VKGL data sharing initiative Nederland Leiden, unpublished - - CLASSIFICATION record, Germline - - - - - Birgit Neitzel, Andreas Laner, Vincent Janmaat, VKGL-NL_Nijmegen
?/. 1 - c.2329A>T r.(?) p.(Met777Leu) - VUS g.62034569T>A - SCN4A(NM_000334.4):c.2329A>T (p.M777L) - SCN4A_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+, -/., -?/., ?/. 9 13 c.2341G>A r.(?) p.(Val781Ile) - benign, likely benign, pathogenic, VUS g.62034557C>T g.63957197C>T SCN4A(NM_000334.4):c.2341G>A (p.V781I) - SCN4A_000036 14 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Leiden, unpublished, PubMed: Narang 2020, Journal: Narang 2020 - rs62070884 CLASSIFICATION record, Germline, Unknown - 14/2794 individuals - - - Birgit Neitzel, Uschi Peeters, Andreas Laner, Vincent Janmaat, VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq
-/. 2 13i c.2376+43G>A r.(=), r.(?) p.(=) - benign g.62034479C>T g.63957119C>T - - SCN4A_000103, SCN4A_000145 - - - - Germline - - - - - Birgit Neitzel, Andreas Laner
+/. 1 - c.2411C>T r.(?) p.(Ser804Phe) - pathogenic g.62029226G>A g.63951866G>A - - SCN4A_000144 - - - - Germline - - - - - Andreas Laner
?/. 2 14 c.2411T>A r.(?) p.(Ser804Thr) - VUS g.62029226A>T g.63951866A>T - - SCN4A_000037 1 more item Leiden, unpublished, Okuda [2001] - - Germline - - - - - Vincent Janmaat
?/. 1 - c.2586C>T r.(=) p.(=) - VUS g.62029051G>A g.63951691G>A - - SCN4A_000143 ESE-finder: loss of SRp40-site; Mut.Taster: Poly (0,99) - - - Germline - - - - - Andreas Laner
?/. 1 - c.2596G>A r.(?) p.(Glu866Lys) - VUS g.62029041C>T g.63951681C>T - - SCN4A_000142 - - - - Germline - - - - - Andreas Laner
-?/., ?/. 4 14 c.2623C>T r.(?) p.(Pro875Ser) - likely benign, VUS g.62029014G>A g.63951654G>A SCN4A(NM_000334.4):c.2623C>T (p.(Pro875Ser), p.P875S) - SCN4A_000038 VKGL data sharing initiative Nederland Leiden, unpublished - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Vincent Janmaat, VKGL-NL_Utrecht
?/. 1 - c.2626G>A r.(?) p.(Glu876Lys) ACMG VUS g.62029011C>T g.63951651C>T - - SCN4A_000231 ACMG: BP4,PM2 - - rs886053247 Germline - - - - - Andreas Laner
-/-, -/. 13 14 c.2631T>C r.(=), r.(?) p.(=), p.(Asp877=), p.(Asp877Asp) - benign g.62029006A>G g.63951646A>G - - SCN4A_000039, SCN4A_000141 VKGL data sharing initiative Nederland Leiden, unpublished - - CLASSIFICATION record, Germline - - - - - Birgit Neitzel, Andreas Laner, Vincent Janmaat, VKGL-NL_Nijmegen
-/- 1 14 c.2697G>A r.(?) p.(Leu899Leu) - benign g.62028940C>T g.63951580C>T - - SCN4A_000040 - Leiden, unpublished - - Germline - - - - - Vincent Janmaat
-/-, -/., -?/. 9 14 c.2717G>C r.(?) p.(Ser906Thr) - benign, likely benign g.62028920C>G g.63951560C>G - - SCN4A_000041 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Leiden, unpublished, PubMed: Narang 2020, Journal: Narang 2020 - rs41280102 CLASSIFICATION record, Germline - 1/2794 individuals - - - Vincent Janmaat, VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.2748C>G r.(?) p.(Asn916Lys) - likely benign g.62028889G>C g.63951529G>C SCN4A(NM_000334.4):c.2748C>G (p.N916K) - SCN4A_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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