ClinVar for MedGen (Select 462337) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238770	NM_001040142.2(SCN2A):c.4481A>G (p.Gln1494Arg)	SCN2A (Q1494R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3236774	NM_001040142.2(SCN2A):c.1243T>C (p.Tyr415His)	SCN2A (Y415H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3236457	NM_001040142.2(SCN2A):c.1111delinsTG (p.Ser371fs)	SCN2A (S371fs)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3068356	NM_001040142.2(SCN2A):c.3626G>A (p.Trp1209Ter)	SCN2A (W1209*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3066121	NM_001040142.2(SCN2A):c.4295_4297del (p.Val1432del)	SCN2A (V1432del)	Deletion (inframe deletion)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3066036	NM_001040142.2(SCN2A):c.526G>C (p.Ala176Pro)	SCN2A (A176P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 3024239	NM_001040142.2(SCN2A):c.4309-2A>G	SCN2A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia, type 9 +2 more	GLikely pathogenic
Select item 2954483	NM_001040142.2(SCN2A):c.4447T>C (p.Phe1483Leu)	SCN2A (F1483L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2954134	NM_001040142.2(SCN2A):c.3463G>A (p.Glu1155Lys)	SCN2A (E1155K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 2954065	NM_001040142.2(SCN2A):c.261T>A (p.Asn87Lys)	SCN2A (N87K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 2953899	NM_001040142.2(SCN2A):c.4552-15T>C	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +1 more	GLikely benign
Select item 2953844	NM_001040142.2(SCN2A):c.2049A>G (p.Arg683=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +1 more	GLikely benign
Select item 2953833	NM_001040142.2(SCN2A):c.4842G>A (p.Leu1614=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +1 more	GLikely benign
Select item 2953829	NM_001040142.2(SCN2A):c.1094C>G (p.Thr365Arg)	SCN2A (T365R)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 2953494	NM_001040142.2(SCN2A):c.3516A>G (p.Thr1172=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2953373	NM_001040142.2(SCN2A):c.606-18G>A	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2953033	NM_001040142.2(SCN2A):c.1280C>T (p.Ala427Val)	SCN2A (A427V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952879	NM_001040142.2(SCN2A):c.1533A>T (p.Lys511Asn)	SCN2A (K511N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952673	NM_001040142.2(SCN2A):c.2604T>C (p.Asn868=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2952646	NM_001040142.2(SCN2A):c.3052A>G (p.Lys1018Glu)	SCN2A (K1018E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952645	NM_001040142.2(SCN2A):c.3029T>C (p.Met1010Thr)	SCN2A (M1010T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952586	NM_001040142.2(SCN2A):c.4446+16C>T	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2952555	NM_001040142.2(SCN2A):c.4363A>G (p.Ile1455Val)	SCN2A (I1455V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952531	NM_001040142.2(SCN2A):c.1186G>A (p.Ala396Thr)	SCN2A (A396T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952310	NM_001040142.2(SCN2A):c.5578G>C (p.Ala1860Pro)	SCN2A (A1860P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952215	NM_001040142.2(SCN2A):c.1180C>T (p.Leu394=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2952171	NM_001040142.2(SCN2A):c.3179A>T (p.Glu1060Val)	SCN2A (E1060V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2952098	NM_001040142.2(SCN2A):c.606-16_606-3del	SCN2A	Deletion (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2951958	NM_001040142.2(SCN2A):c.4451_4454del (p.Gly1484fs)	SCN2A (G1484fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2951949	NM_001040142.2(SCN2A):c.2656T>A (p.Leu886Met)	SCN2A (L886M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2951900	NM_001040142.2(SCN2A):c.4822+1G>T	SCN2A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2951893	NM_001040142.2(SCN2A):c.5466A>G (p.Ala1822=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2951865	NM_001040142.2(SCN2A):c.4956T>A (p.Ala1652=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2951785	NM_001040142.2(SCN2A):c.4545A>T (p.Arg1515=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2951784	NM_001040142.2(SCN2A):c.3551_3558del (p.Ile1184fs)	SCN2A (I1184fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2951611	NM_001040142.2(SCN2A):c.2266G>A (p.Val756Ile)	SCN2A (V756I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2951510	NM_001040142.2(SCN2A):c.1641A>G (p.Thr547=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2951404	NM_001040142.2(SCN2A):c.1972G>C (p.Gly658Arg)	SCN2A (G658R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2951326	NM_001040142.2(SCN2A):c.1827C>A (p.Asp609Glu)	SCN2A (D609E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2951305	NM_001040142.2(SCN2A):c.4437del (p.Lys1481fs)	SCN2A (K1481fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2951075	NM_001040142.2(SCN2A):c.3458A>T (p.Glu1153Val)	SCN2A (E1153V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950858	NM_001040142.2(SCN2A):c.4840C>A (p.Leu1614Met)	SCN2A (L1614M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950789	NM_001040142.2(SCN2A):c.4797T>C (p.Phe1599=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2950788	NM_001040142.2(SCN2A):c.3780G>T (p.Lys1260Asn)	SCN2A (K1260N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GUncertain significance
Select item 2950683	NM_001040142.2(SCN2A):c.2385C>T (p.Asn795=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +2 more	GBenign/Likely benign
Select item 2950597	NM_001040142.2(SCN2A):c.3246A>G (p.Val1082=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2950596	NM_001040142.2(SCN2A):c.5914C>G (p.Pro1972Ala)	SCN2A (P1972A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950528	NM_001040142.2(SCN2A):c.254A>T (p.Tyr85Phe)	SCN2A (Y85F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950505	NM_001040142.2(SCN2A):c.110C>G (p.Pro37Arg)	SCN2A (P37R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950354	NM_001040142.2(SCN2A):c.2983G>A (p.Asp995Asn)	SCN2A (D995N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950353	NM_001040142.2(SCN2A):c.4141_4142insGTGCACGCTT (p.Asn1381fs)	SCN2A (N1381fs)	Insertion (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2950352	NM_001040142.2(SCN2A):c.4140C>G (p.Val1380=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2950225	NM_001040142.2(SCN2A):c.608A>T (p.Tyr203Phe)	SCN2A (Y203F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950085	NM_001040142.2(SCN2A):c.3170C>T (p.Thr1057Ile)	SCN2A (T1057I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2950020	NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)	SCN2A (N976H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely pathogenic
Select item 2950013	NM_001040142.2(SCN2A):c.5452C>G (p.Leu1818Val)	SCN2A (L1818V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2949967	NM_001040142.2(SCN2A):c.1861C>A (p.Arg621Ser)	SCN2A (R621S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2949850	NM_001040142.2(SCN2A):c.4370T>A (p.Ile1457Asn)	SCN2A (I1457N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2949708	NM_001040142.2(SCN2A):c.4928C>A (p.Ala1643Glu)	SCN2A (A1643E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2949506	NM_001040142.2(SCN2A):c.4660G>T (p.Asp1554Tyr)	SCN2A (D1554Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2949441	NM_001040142.2(SCN2A):c.2936T>C (p.Leu979Ser)	SCN2A (L979S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2949324	NM_001040142.2(SCN2A):c.4258A>G (p.Thr1420Ala)	SCN2A (T1420A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2949323	NM_001040142.2(SCN2A):c.4139T>G (p.Val1380Gly)	SCN2A (V1380G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2949288	NM_001040142.2(SCN2A):c.3849+19G>C	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2949093	NM_001040142.2(SCN2A):c.3211G>T (p.Gly1071Ter)	SCN2A (G1071*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2948820	NM_001040142.2(SCN2A):c.5852T>C (p.Ile1951Thr)	SCN2A (I1951T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2948792	NM_001040142.2(SCN2A):c.1671+14A>T	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2948760	NM_001040142.2(SCN2A):c.1721G>A (p.Arg574Lys)	SCN2A (R574K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2948758	NM_001040142.2(SCN2A):c.911G>T (p.Gly304Val)	SCN2A (G304V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2948572	NM_001040142.2(SCN2A):c.971-10C>G	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2948571	NM_001040142.2(SCN2A):c.3843T>G (p.Ile1281Met)	SCN2A (I1281M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2948552	NM_001040142.2(SCN2A):c.4453G>C (p.Gly1485Arg)	SCN2A (G1485R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2948201	NM_001040142.2(SCN2A):c.198T>C (p.Tyr66=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2948095	NM_001040142.2(SCN2A):c.1177-3C>G	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2948052	NM_001040142.2(SCN2A):c.4552-12T>C	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2947980	NM_001040142.2(SCN2A):c.3760A>T (p.Ile1254Phe)	SCN2A (I1254F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2947820	NM_001040142.2(SCN2A):c.2138A>G (p.Asn713Ser)	SCN2A (N713S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2947810	NM_001040142.2(SCN2A):c.399_400dup (p.Leu134fs)	SCN2A (L134fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2947779	NM_001040142.2(SCN2A):c.970+11C>G	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2947651	NM_001040142.2(SCN2A):c.4255G>T (p.Ala1419Ser)	SCN2A (A1419S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2947502	NM_001040142.2(SCN2A):c.4383A>T (p.Ser1461=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2947455	NM_001040142.2(SCN2A):c.1184G>A (p.Arg395His)	SCN2A (R395H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2947342	NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)	SCN2A (V892F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely pathogenic
Select item 2947222	NM_001040142.2(SCN2A):c.3325G>C (p.Val1109Leu)	SCN2A (V1109L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2947157	NM_001040142.2(SCN2A):c.4446+18T>A	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2946939	NM_001040142.2(SCN2A):c.163G>A (p.Asp55Asn)	SCN2A (D55N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2946739	NM_001040142.2(SCN2A):c.1393G>A (p.Ala465Thr)	SCN2A (A465T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2946330	NM_001040142.2(SCN2A):c.2991T>C (p.Asp997=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2946315	NM_001040142.2(SCN2A):c.2786T>C (p.Phe929Ser)	SCN2A (F929S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2946138	NM_001040142.2(SCN2A):c.351T>C (p.Pro117=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2946097	NM_001040142.2(SCN2A):c.1508del (p.Asn503fs)	SCN2A (N503fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2946085	NM_001040142.2(SCN2A):c.4446+15A>G	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2946060	NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)	SCN2A (W1424*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2945945	NM_001040142.2(SCN2A):c.4268G>A (p.Gly1423Glu)	SCN2A (G1423E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2945836	NM_001040142.2(SCN2A):c.1030del (p.Ala344fs)	SCN2A (A344fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 2945624	NM_001040142.2(SCN2A):c.4779A>T (p.Gly1593=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely benign
Select item 2945553	NM_001040142.2(SCN2A):c.3274T>C (p.Tyr1092His)	SCN2A (Y1092H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2945474	NM_001040142.2(SCN2A):c.1198A>G (p.Thr400Ala)	SCN2A (T400A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2945463	NM_001040142.2(SCN2A):c.163G>C (p.Asp55His)	SCN2A (D55H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 2945301	NM_001040142.2(SCN2A):c.4446+5G>C	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance

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