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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN3A
Single nucleotide variant
(synonymous variant)
Epilepsy, familial focal, with variable foci 4
+2 more
GBenign/Likely benign
SCN3A
(G1734R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 62
+2 more
GBenign
SCN3A
(V1347M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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)
Early infantile epileptic encephalopathy with suppression bursts
GBenign
SCN3A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
SCN3A
(G674D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
SCN3A
(G668E)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN3A
Deletion
(splice acceptor variant +1 more)
not provided
+2 more
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SCN3A
(E46A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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