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Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN3A
(R219G)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(I1552T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(N1676T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(A1446V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(E673*)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 62
+1 more
GPathogenic
SCN3A
(A433V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(M1555T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(P679S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 62
+1 more
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 62
+1 more
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SCN3A
(P614A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN3A
(R802Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+1 more
GUncertain significance
SCN3A
(A2T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN3A
(P555T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+1 more
GUncertain significance
SCN3A
(K1934Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
(S1061A +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(M1716I +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial focal, with variable foci 4
+1 more
GPathogenic/Likely pathogenic
SCN3A
(Y1620C +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
(F1597S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
(K1457fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
(T1437I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+1 more
GPathogenic/Likely pathogenic
SCN3A
(L836F +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
(L806P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN3A
(M1825R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
(L656V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SCN3A
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 4
+2 more
GBenign
SCN3A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SCN3A
(A1356S +1 more)
Single nucleotide variant
(missense variant)
SCN3A-related condition
GUncertain significance
SCN3A
(T1161I +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial focal, with variable foci 4
+2 more
GUncertain significance
SCN3A
(Q557L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(F161L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
SCN3A
(T1547M +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial focal, with variable foci 4
+2 more
GUncertain significance
SCN3A
(A1167T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN3A
Deletion
(splice acceptor variant +1 more)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
(I1419R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+1 more
GLikely pathogenic
SCN3A
(M735V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(L935del +1 more)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 62
+2 more
GBenign/Likely benign
SCN3A
(L1812F +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+1 more
GUncertain significance
SCN3A
(K1197E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(V1347M +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
(E46A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
(V657A)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 62
+1 more
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 4
+2 more
GBenign
SCN3A
(G1734R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 62
+2 more
GBenign
SCN3A
(V1769A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
SCN3A
(R1621Q +1 more)
Single nucleotide variant
(missense variant)
Congenital bilateral perisylvian syndrome
+2 more
GPathogenic/Likely pathogenic
SCN3A
(L209P)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 62
+2 more
GLikely pathogenic
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
SCN3A
(S1078G +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial focal, with variable foci 4
+2 more
GUncertain significance
SCN3A
(P1333L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+1 more
GPathogenic/Likely pathogenic
SCN3A
(I875T +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
SCN3A
(G674D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 62
+3 more
GBenign/Likely benign
SCN3A
(I1036V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
(V1035I +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
SCN3A
(G668E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 62
+3 more
GBenign
SCN3A
Single nucleotide variant
(synonymous variant)
Epilepsy, familial focal, with variable foci 4
+3 more
GBenign
SCN3A
(N43del)
Deletion
(inframe_deletion)
Epilepsy, familial focal, with variable foci 4
+3 more
GBenign
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