Full data view for gene SCN7A

Information The variants shown are described using the NM_002976.3 transcript reference sequence.

129 entries on 2 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.146del r.(?) p.(Lys49SerfsTer33) Unknown - VUS g.167334065del g.166477555del - - SCN7A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281C>T r.(?) p.(Ala94Val) Unknown - VUS g.167330808G>A - - - SCN7A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301T>A r.(?) p.(Leu101Met) Unknown - likely benign g.167330788A>T g.166474278A>T - - SCN7A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.314A>G r.(?) p.(Asn105Ser) Unknown - likely benign g.167330775T>C - - - SCN7A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.319A>G r.(?) p.(Ile107Val) Unknown - likely benign g.167330770T>C g.166474260T>C - - SCN7A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.353+6C>A r.(=) p.(=) Unknown - likely benign g.167330730G>T g.166474220G>T - - SCN7A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528C>T r.(?) p.(Leu176=) Unknown - likely benign g.167328871G>A - - - SCN7A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532G>A r.(?) p.(Asp178Asn) Unknown - VUS g.167328867C>T - - - SCN7A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558C>T r.(?) p.(Ser186=) Unknown - likely benign g.167328841G>A - - - SCN7A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559G>A r.(?) p.(Val187Ile) Unknown - VUS g.167328840C>T - - - SCN7A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.611C>T r.(?) p.(Thr204Met) Unknown - likely benign g.167327178G>A - - - SCN7A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612G>A r.(?) p.(Thr204=) Unknown - likely benign g.167327177C>T g.166470667C>T - - SCN7A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.638T>G r.(?) p.(Ile213Ser) Unknown - VUS g.167327151A>C - - - SCN7A_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.665-8C>T r.(=) p.(=) Unknown - likely benign g.167322505G>A - - - SCN7A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707A>C r.(?) p.(Gln236Pro) Unknown - likely benign g.167322455T>G - - - SCN7A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741T>C r.(?) p.(Phe247=) Unknown - likely benign g.167322421A>G - - - SCN7A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757C>G r.(?) p.(Leu253Val) Unknown - VUS g.167322405G>C - - - SCN7A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.805C>T r.(?) p.(Arg269Ter) Parent #2 - likely pathogenic g.167322357G>A g.166465847G>A - - SCN7A_000057 concordant segregation, functional data: increased and persistent expression of SCN7A in the epileptic rat and human hippocampus PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
-?/. - c.860A>G r.(?) p.(Tyr287Cys) Unknown - likely benign g.167322302T>C - - - SCN7A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.872-19T>C r.(=) p.(=) Unknown - likely benign g.167322060A>G g.166465550A>G - - SCN7A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.934G>A r.(?) p.(Asp312Asn) Unknown - VUS g.167321979C>T - - - SCN7A_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003A>G r.(?) p.(Asn335Asp) Unknown - likely benign g.167318979T>C g.166462469T>C - - SCN7A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043G>A r.(?) p.(Arg348Gln) Unknown - VUS g.167318939C>T g.166462429C>T - - SCN7A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1046T>A r.(?) p.(Leu349Ter) Unknown - VUS g.167318936A>T g.166462426A>T - - SCN7A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1069G>A r.(?) p.(Val357Ile) Unknown - likely benign g.167318913C>T g.166462403C>T - - SCN7A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248A>G r.(?) p.(Gln416=) Unknown - likely benign g.167313422T>C g.166456912T>C SCN7A(NM_002976.3):c.1248A>G (p.Q416=) - SCN7A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248A>G r.(?) p.(Gln416=) Unknown - likely benign g.167313422T>C - SCN7A(NM_002976.3):c.1248A>G (p.Q416=) - SCN7A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1253C>A r.(?) p.(Thr418Asn) Unknown - likely benign g.167313417G>T - - - SCN7A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1290+6T>C r.(=) p.(=) Unknown - likely benign g.167313374A>G - - - SCN7A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1300A>G r.(?) p.(Ile434Val) Unknown - VUS g.167304209T>C - SCN7A(NM_002976.4):c.1300A>G (p.(Ile434Val)) - SCN7A_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1317G>C r.(?) p.(Lys439Asn) Unknown - likely benign g.167304192C>G - - - SCN7A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1341C>T r.(?) p.(Asp447=) Unknown - likely benign g.167304168G>A g.166447658G>A SCN7A(NM_002976.3):c.1341C>T (p.D447=) - SCN7A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1348T>C r.(?) p.(Leu450=) Unknown - likely benign g.167304161A>G g.166447651A>G - - SCN7A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364A>G r.(?) p.(Asp455Gly) Unknown - VUS g.167304145T>C - - - SCN7A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1367C>G r.(?) p.(Ala456Gly) Unknown - likely benign g.167304142G>C g.166447632G>C - - SCN7A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1374C>T r.(?) p.(Leu458=) Unknown - likely benign g.167304135G>A - - - SCN7A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398A>G r.(?) p.(Lys466=) Unknown - likely benign g.167301500T>C g.166444990T>C - - SCN7A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1407G>A r.(?) p.(Lys469=) Unknown - likely benign g.167301491C>T - - - SCN7A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1479A>G r.(?) p.(Lys493=) Unknown - likely benign g.167301419T>C - - - SCN7A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501A>C r.(?) p.(Ile501Leu) Unknown - likely benign g.167301397T>G g.166444887T>G - - SCN7A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1539A>G r.(?) p.(Ile513Met) Unknown - likely benign g.167301359T>C - - - SCN7A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1613A>G r.(?) p.(Asn538Ser) Unknown - likely benign g.167301285T>C - - - SCN7A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1646C>T r.(?) p.(Thr549Ile) Unknown - VUS g.167300167G>A - - - SCN7A_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1685A>G r.(?) p.(Tyr562Cys) Unknown - benign g.167300128T>C g.166443618T>C - - SCN7A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1685A>G r.(?) p.(Tyr562Cys) Parent #1 - benign g.167300128T>C g.166443618T>C - - SCN7A_000037 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143491867 Germline - 7/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.1798A>T r.(?) p.(Met600Leu) Unknown - likely benign g.167300015T>A g.166443505T>A SCN7A(NM_002976.4):c.1798A>T (p.(Met600Leu)) - SCN7A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1798A>T r.(?) p.(Met600Leu) Unknown - benign g.167300015T>A - SCN7A(NM_002976.4):c.1798A>T (p.(Met600Leu)) - SCN7A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1930T>A r.(?) p.(Phe644Ile) Unknown - likely benign g.167298133A>T - - - SCN7A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1932C>T r.(?) p.(Phe644=) Unknown - likely benign g.167298131G>A - - - SCN7A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1970T>C r.(?) p.(Val657Ala) Unknown - likely benign g.167298093A>G g.166441583A>G - - SCN7A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1995A>G r.(?) p.(Gln665=) Unknown - likely benign g.167298068T>C - - - SCN7A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1996C>G r.(?) p.(Leu666Val) Unknown - likely benign g.167298067G>C g.166441557G>C - - SCN7A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2042T>C r.(?) p.(Val681Ala) Unknown - VUS g.167298021A>G - - - SCN7A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2047C>T r.(?) p.(Arg683Ter) Unknown - VUS g.167298016G>A g.166441506G>A - - SCN7A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2048G>A r.(?) p.(Arg683Gln) Unknown - likely benign g.167298015C>T g.166441505C>T - - SCN7A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2048G>A r.(?) p.(Arg683Gln) Parent #1 - benign g.167298015C>T g.166441505C>T - - SCN7A_000033 89 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116825611 Germline - 89/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 89 Mohammed Faruq
-/. - c.2048G>A r.(?) p.(Arg683Gln) Both (homozygous) - benign g.167298015C>T g.166441505C>T - - SCN7A_000033 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116825611 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.2081G>A r.(?) p.(Trp694Ter) Parent #1 - likely pathogenic g.167297982C>T g.166441472C>T - - SCN7A_000056 concordant segregation, functional data: increased and persistent expression of SCN7A in the epileptic rat and human hippocampus PubMed: Lefebvre 2021 - - Germline - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus F - France - - - - - 1 Johan den Dunnen
-?/. - c.2157+15C>A r.(=) p.(=) Unknown - likely benign g.167297891G>T - - - SCN7A_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2157+19T>C r.(=) p.(=) Unknown - likely benign g.167297887A>G - - - SCN7A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2158-4T>G r.spl? p.? Unknown - likely benign g.167289266A>C - - - SCN7A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2171T>G r.(?) p.(Phe724Cys) Unknown - VUS g.167289249A>C - - - SCN7A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2204A>G r.(?) p.(Lys735Arg) Unknown - likely benign g.167289216T>C - SCN7A(NM_002976.4):c.2204A>G (p.(Lys735Arg)) - SCN7A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2257del r.(?) p.(Ala753GlnfsTer7) Unknown - VUS g.167289164del g.166432654del - - SCN7A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2408A>T r.(?) p.(Asp803Val) Unknown - benign g.167289012T>A g.166432502T>A - - SCN7A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2431A>G r.(?) p.(Ser811Gly) Unknown - likely benign g.167288989T>C - - - SCN7A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2452G>T r.(?) p.(Ala818Ser) Unknown - likely benign g.167288968C>A - - - SCN7A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2454T>C r.(?) p.(Ala818=) Unknown - likely benign g.167288966A>G g.166432456A>G - - SCN7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2477T>A r.(?) p.(Leu826His) Unknown - likely benign g.167288943A>T - SCN7A(NM_002976.3):c.2477T>A (p.(Leu826His)) - SCN7A_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2502A>T r.(?) p.(Glu834Asp) Unknown - likely benign g.167288918T>A - - - SCN7A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2541T>C r.(?) p.(Asn847=) Unknown - likely benign g.167288879A>G g.166432369A>G - - SCN7A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2604A>G r.(?) p.(Gln868=) Unknown - likely benign g.167285773T>C - - - SCN7A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2699-5G>A r.spl? p.? Unknown - likely benign g.167284457C>T - - - SCN7A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2707C>T r.(?) p.(Arg903Cys) Unknown - likely benign g.167284444G>A - - - SCN7A_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2710G>A r.(?) p.(Gly904Arg) Unknown - benign g.167284441C>T - - - SCN7A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2720T>C r.(?) p.(Leu907Pro) Unknown - likely benign g.167284431A>G g.166427921A>G - - SCN7A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2795A>C r.(?) p.(Glu932Ala) Unknown - VUS g.167284356T>G g.166427846T>G - - SCN7A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2867T>C r.(?) p.(Ile956Thr) Unknown - VUS g.167279929A>G g.166423419A>G - - SCN7A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3027+7A>G r.(=) p.(=) Unknown - likely benign g.167279762T>C g.166423252T>C - - SCN7A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3028-9A>T r.(=) p.(=) Unknown - benign g.167277816T>A g.166421306T>A SCN7A(NM_002976.4):c.3028-9A>T - SCN7A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3028-9A>T r.(=) p.(=) Unknown - likely benign g.167277816T>A - SCN7A(NM_002976.4):c.3028-9A>T - SCN7A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3038T>G r.(?) p.(Leu1013Arg) Unknown - likely benign g.167277797A>C - - - SCN7A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3059G>A r.(?) p.(Arg1020Gln) Unknown - likely benign g.167277776C>T g.166421266C>T - - SCN7A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3128G>A r.(?) p.(Arg1043Lys) Unknown - likely benign g.167277707C>T - - - SCN7A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3243T>C r.(?) p.(Ala1081=) Unknown - likely benign g.167273388A>G - - - SCN7A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3316C>T r.(?) p.(Arg1106Trp) Unknown - likely benign g.167273315G>A - - - SCN7A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3339C>T r.(?) p.(Asn1113=) Unknown - likely benign g.167273292G>A - - - SCN7A_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3340G>A r.(?) p.(Glu1114Lys) Unknown - likely benign g.167273291C>T - - - SCN7A_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3415-17G>A r.(=) p.(=) Unknown - likely benign g.167269648C>T g.166413138C>T - - SCN7A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3461C>A r.(?) p.(Ser1154Tyr) Unknown - VUS g.167269585G>T - - - SCN7A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3551_3554del r.(?) p.(Pro1184ArgfsTer4) Unknown - VUS g.167269092_167269095del - SCN7A(NM_002976.4):c.3551_3554delCTCT (p.P1184Rfs*4) - SCN7A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3610G>A r.(?) p.(Gly1204Arg) Unknown - VUS g.167266831C>T g.166410321C>T - - SCN7A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3630A>G r.(?) p.(Ile1210Met) Unknown - likely benign g.167266811T>C - - - SCN7A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3664A>T r.(?) p.(Lys1222*) Unknown - VUS g.167266777T>A - - - SCN7A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3712-12T>C r.(=) p.(=) Unknown - likely benign g.167266457A>G g.166409947A>G - - SCN7A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3712-2A>G r.spl? p.? Both (homozygous) - pathogenic g.167266447T>C g.166409937T>C - - SCN7A_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.3712-2A>G r.spl? p.? Unknown - benign g.167266447T>C - - - SCN7A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3735T>C r.(?) p.(Phe1245=) Unknown - likely benign g.167266422A>G g.166409912A>G - - SCN7A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3787T>C r.(?) p.(Phe1263Leu) Unknown - likely benign g.167266370A>G - - - SCN7A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3805A>G r.(?) p.(Met1269Val) Unknown - VUS g.167266352T>C - - - SCN7A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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