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Links from MedGen

Items: 1 to 100 of 1691

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
(F1527V)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
GUncertain significance
SCN2A
Single nucleotide variant
(splice acceptor variant)
Episodic ataxia, type 9
+2 more
GLikely pathogenic
SCN2A
(F1483L)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+1 more
GUncertain significance
SCN2A
(E1155K)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+1 more
GUncertain significance
SCN2A
(N87K)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Seizures, benign familial infantile, 3
+1 more
GLikely benign
SCN2A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 3
+1 more
GLikely benign
SCN2A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 3
+1 more
GLikely benign
SCN2A
(T365R)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(A427V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(K511N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(K1018E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(M1010T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(I1455V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(A396T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(A1860P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(E1060V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(G1484fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(L886M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(I1184fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(V756I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(G658R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(D609E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(K1481fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(E1153V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(L1614M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(K1260N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+2 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
SCN2A-related disorder
+2 more
GBenign/Likely benign
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(P1972A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(Y85F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(P37R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(D995N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(N1381fs)
Insertion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(Y203F)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(T1057I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(N976H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely pathogenic
SCN2A
(L1818V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(R621S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(I1457N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(A1643E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(D1554Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(L979S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(T1420A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(V1380G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(G1071*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(I1951T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(R574K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(G304V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(I1281M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(G1485R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(I1254F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(N713S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(L134fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(A1419S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(R395H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(V892F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely pathogenic
SCN2A
(V1109L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(D55N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(A465T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(F929S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(N503fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(W1424*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SCN2A
(G1423E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(A344fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(Y1092H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(T400A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(D55H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(V1159A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(L1341V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
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