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Links from MedGen

Items: 1 to 100 of 1354

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
(K1863R)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
GUncertain significance
SCN2A
(G1522A +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia, type 9
GPathogenic
SCN2A
(R1397S)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
GUncertain significance
SCN2A
(A993P)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
GUncertain significance
SCN2A
(A1226fs)
Microsatellite
(frameshift variant)
Continuous spikes and waves during sleep
+8 more
Gnot provided
SCN2A
(P70A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN2A
Deletion
Developmental and epileptic encephalopathy, 11
+1 more
GLikely pathogenic
SCN2A
Deletion
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
Duplication
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
Deletion
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
CSRNP3, GALNT3
+4 more
Duplication
Developmental and epileptic encephalopathy, 11
+3 more
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(A215V)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
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
(R1319P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely pathogenic
SCN2A
(D284G)
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
(F580L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(N1446S)
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
(I1945V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(I1910T)
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
Single nucleotide variant
(intron 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
(V1325I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(I1252V)
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
Single nucleotide variant
(intron 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
(S1392N)
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
(R15H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(A954T)
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
(E1173K)
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
(A99V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(N53S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(T155A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(A1396V)
Single nucleotide variant
(missense 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
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely pathogenic
SCN2A
(G345V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(N150D)
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
(R722fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
Deletion
(nonsense)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(V251F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely pathogenic
SCN2A
(I417V)
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
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(G1062S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(E289fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 11
+1 more
GPathogenic
SCN2A
(C1052Y)
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
(C1940Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(E1558Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(C1182R)
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
(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
(D1487V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(R701K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(G879R)
Indel
(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
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely benign
SCN2A
(S686N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(P1512R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(A733V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(P1960S)
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
(K506R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(T1552I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(Q1004H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(R633K)
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
(I1673T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(G941R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(F1114L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(K731T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(M133V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(N990K)
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
(M1338V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GLikely pathogenic
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
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
(D1015H)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+1 more
GUncertain significance
SCN2A
(M1679V)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+1 more
GUncertain significance
SCN2A
(F257I)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+1 more
GUncertain significance
SCN2A
(L886V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
SCN2A
(E1256G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+1 more
GUncertain significance
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