List of variants in gene SCN2A reported as likely pathogenic for infancy electroclinical syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 117

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HGVS	dbSNP	gnomAD frequency
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NC_000002.11:g.(?_166210682)_(166211201_?)del
NC_000002.11:g.(?_166231283)_(166236819_?)del
NC_000002.11:g.(?_166237239)_(166239066_?)del
NC_000002.12:g.(?_165342276)_(165389844_?)del
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu)	rs1697569337
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu)	rs2105255430
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys)	rs747086776
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)	rs796053181
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly)	rs796053183
NM_001040142.2(SCN2A):c.1384-2A>G	rs1574571769
NM_001040142.2(SCN2A):c.1672-2A>G
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val)	rs1698670041
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu)	rs1574636716
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe)	rs1699366355
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)	rs1553579225
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val)	rs1699475919
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)	rs1574641522
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser)	rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)	rs1574641605
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)	rs121917751
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer)	rs2105318837
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)	rs796053121
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)	rs1553579488
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val)	rs2105319172
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del)	rs2105319200
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu)	rs2105319230
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)	rs1553583544
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly)	rs1700069881
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys)	rs2105336842
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del)	rs1700070748
NM_001040142.2(SCN2A):c.3520+1G>T
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro)	rs1700783234
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg)	rs1574697769
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg)	rs2105365343
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro)	rs1701139863
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)	rs190111194
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
NM_001040142.2(SCN2A):c.3973-2A>G	rs1701219319
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly)	rs1553593578
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)	rs121917749
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn)	rs1483179196
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr)	rs2105373101
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val)	rs1308555812
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)	rs1574716488
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile)	rs1574716524
NM_001040142.2(SCN2A):c.4255-6T>A	rs1701381827
NM_001040142.2(SCN2A):c.4309-2A>G
NM_001040142.2(SCN2A):c.4379G>A (p.Gly1460Asp)
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile)	rs1701553334
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr)	rs1085307898
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu)	rs2105385669
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val)	rs2105385694
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val)	rs2105385817
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
NM_001040142.2(SCN2A):c.4552-2A>G
NM_001040142.2(SCN2A):c.4614G>T (p.Met1538Ile)	rs1553463042
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile)	rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile)	rs1574746733
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)	rs1057519524
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg)	rs1574746935
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys)	rs1553463119
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met)	rs1553463140
NM_001040142.2(SCN2A):c.4822+1G>A
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala)	rs1702003246
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys)	rs1702003567
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met)	rs796053160
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)	rs1702006673
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro)	rs1702008208
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	rs1060503101
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser)	rs1553463513
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)	rs1553463602
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)	rs1574752700
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp)	rs1553463718
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	rs2105403536
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys)	rs1553463772
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr)	rs2105403619
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn)	rs1702039582
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val)	rs2105243497
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg)	rs1574754680
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)	rs1064796691
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln)	rs1559352517
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser)	rs2105244912
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala)	rs1574556643
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile)	rs2105245017
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)	rs1553567561
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala)	rs1553567561
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr)	rs1064795014
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)

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