U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTAN1
(Y44C)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
SPTAN1
(V233fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTAN1
(A254E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTAN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SPTAN1
(R320C)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
SPTAN1
(R320H)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(V444I)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GBenign/Likely benign
SPTAN1
(S446F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTAN1
(A504V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SPTAN1
(E510K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SPTAN1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(R652C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTAN1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SPTAN1
(Q745K)
Single nucleotide variant
(missense variant)
SPTAN1-related condition
+5 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
SPTAN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SPTAN1
(S889C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SPTAN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GBenign/Likely benign
SPTAN1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SPTAN1
(R1045W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SPTAN1
Microsatellite
(splice acceptor variant)
SPTAN1-related condition
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 5
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(intron variant)
SPTAN1-related condition
+5 more
GBenign/Likely benign
SPTAN1
(S1322N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPTAN1
(G1325V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTAN1
(A1428G +2 more)
Single nucleotide variant
(missense variant)
SPTAN1-related condition
+5 more
GBenign/Likely benign
SPTAN1
(G1520R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTAN1
(N1527S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPTAN1
(G1749R +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Microsatellite
(intron variant)
not specified
+1 more
GLikely benign
SPTAN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SPTAN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GBenign/Likely benign
SPTAN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SPTAN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SPTAN1
(R2092H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTAN1
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SPTAN1
(H2218Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTAN1
(R2255C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
SPTAN1
Microsatellite
(inframe_insertion)
SPTAN1-related condition
+4 more
GPathogenic/Likely pathogenic
SPTAN1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SPTAN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SPTAN1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SPTAN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SPTAN1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination