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Links from Gene

Items: 1 to 100 of 1792

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN3A
(M644T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN3A
(N624K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(M1491L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(M730V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(T1805S +1 more)
Indel
(missense variant)
not provided
GUncertain significance
SCN3A
Deletion
not provided
GLikely pathogenic
SCN3A
(V625F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SCN3A
(M448I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(G1369A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(A1855P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(L1531F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(N86S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SCN3A
(P1458R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(Q853P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S1001T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(M1555K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(P116S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(R378*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCN3A
(I1045V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(A1194fs +1 more)
Duplication
(frameshift variant)
Epilepsy
GLikely pathogenic
SCN3A
(M916T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
Deletion
not provided
GUncertain significance
SCN3A
(S13N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(L1790P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(I1637M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S638R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S815T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(Y202C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN3A
(A1360V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(A1635T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(G1591R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(G1369D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(R633E +1 more)
Indel
(missense variant)
not provided
GUncertain significance
SCN3A
(D1680E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(V759F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(G1430R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S466L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(T89S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(Y1878S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(L1585R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(F1571Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S815P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(P1918L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(E1137A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(V207A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCN3A
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 62
GLikely pathogenic
SCN3A
(R500G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(M1716T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(M1318V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(Y159C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCN3A
(M899L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(N1317K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(L927P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(N1002fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
SCN3A
(D152N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S1047G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(A1118S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(L1450F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(Y1017S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(V199A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(R1822* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SCN3A
(N86H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(Q1183E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(T1756I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(Q1183R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(I896V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(G518E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(E457K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(M1560L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S1904Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(I236T)
Single nucleotide variant
(missense variant)
SCN3A-related disorder
GUncertain significance
SCN3A
(I1897V +1 more)
Single nucleotide variant
(missense variant)
SCN3A-related disorder
GUncertain significance
SCN3A
(R19T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(C1335F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(T1087S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(D1046G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(H615R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(D1046N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
Deletion
not specified
GUncertain significance
SCN3A
(T1189S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(R1584H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(P524S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(R1032S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(I351T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(F1128L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(P1834L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(S784R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(D1796N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(A1007E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(G1580S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
Duplication
not provided
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCN3A
(T1437R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(F1466C +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(D1838N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(W697R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(R683I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCN3A
(K860N +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
GUncertain significance
SCN3A
(R1572G +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
Gnot provided
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