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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN3A
Single nucleotide variant
(synonymous variant)
SCN3A-related condition
+2 more
GBenign/Likely benign
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
(Q1942R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
(A1804V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
(N1494S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
SCN3A-related condition
+1 more
GConflicting classifications of pathogenicity
SCN3A
Duplication
(intron variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
(I1036V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN3A
(V1035I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+3 more
GBenign/Likely benign
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 62
+3 more
GBenign
SCN3A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
SCN3A
(G668E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
(V587A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
(S540F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GLikely benign
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
Epilepsy, familial focal, with variable foci 4
+3 more
GBenign
SCN3A
(I475L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN3A
Single nucleotide variant
(intron variant)
SCN3A-related condition
+1 more
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
SCN3A
(I99V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SCN3A
Single nucleotide variant
(synonymous variant)
SCN3A-related condition
+4 more
GBenign/Likely benign
SCN3A
(N43del)
Deletion
(inframe_deletion)
Epilepsy, familial focal, with variable foci 4
+3 more
GBenign
SCN3A
(K27T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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