U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SCN2A
(A34T)
Single nucleotide variant
(missense variant)
SCN2A-related disorder
+5 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 11
+3 more
GBenign
SCN2A
Microsatellite
(inframe_insertion)
not provided
+4 more
GUncertain significance
SCN2A
(T393K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SCN2A
(E459A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(intron variant)
Seizures, benign familial infantile, 3
+3 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 3
+3 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SCN2A
(R853Q)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+2 more
GPathogenic/Likely pathogenic
SCN2A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 3
+2 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SCN2A
(K905E)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+2 more
GConflicting classifications of pathogenicity
SCN2A
(K908R)
Single nucleotide variant
(missense variant)
Episodic ataxia, type 9
+5 more
GBenign/Likely benign
SCN2A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SCN2A
Single nucleotide variant
(synonymous variant)
SCN2A-related disorder
+5 more
GConflicting classifications of pathogenicity
SCN2A
(E1153K)
Single nucleotide variant
(missense variant)
SCN2A-related disorder
+5 more
GConflicting classifications of pathogenicity
SCN2A
(Q1183E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SCN2A
(A1263V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN2A
(C1386G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+2 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 3
+4 more
GConflicting classifications of pathogenicity
SCN2A
(K1495E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN2A
(G1522A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+3 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
SCN2A-related disorder
+6 more
GBenign/Likely benign
SCN2A
Single nucleotide variant
(synonymous variant)
SCN2A-related disorder
+5 more
GBenign/Likely benign
SCN2A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SCN2A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 11
+3 more
GConflicting classifications of pathogenicity
SCN2A
(R1882Q)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 3
+3 more
GPathogenic/Likely pathogenic
SCN2A
(R1918C)
Single nucleotide variant
(missense variant)
SCN2A-related disorder
+5 more
GConflicting classifications of pathogenicity
SCN2A
(V1925I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN2A
(S1958*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination