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Items: 1 to 100 of 179

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RELN, SLC26A5-AS1
(N3450S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RELN, SLC26A5-AS1
(M3437T +1 more)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
(R3387K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(I3374V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GUncertain significance
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign
SLC26A5-AS1, RELN
(M3339T)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
SLC26A5-AS1, RELN
Single nucleotide variant
(synonymous variant)
RELN-related condition
+4 more
GConflicting classifications of pathogenicity
LOC126860130, RELN
+1 more
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
LOC126860130, RELN
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126860130, RELN
+1 more
(T3242M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126860130, RELN
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC126860130, RELN
+1 more
(V3225M)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
LOC126860130, RELN
+1 more
(R3207H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126860130, RELN
+1 more
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
SLC26A5-AS1, RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Deletion
(intron variant)
Norman-Roberts syndrome
+4 more
GBenign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RELN, SLC26A5-AS1
(I3114V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RELN, SLC26A5-AS1
(R3110Q)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+4 more
GBenign/Likely benign
RELN, SLC26A5-AS1
(K3100del)
Microsatellite
(inframe_deletion)
RELN-related condition
+6 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
(N3029S)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
RELN, SLC26A5-AS1
(D2982N)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign/Likely benign
RELN, SLC26A5-AS1
(R2955C)
Single nucleotide variant
(missense variant)
RELN-related condition
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+3 more
GBenign/Likely benign
RELN, SLC26A5-AS1
(A2937S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
RELN-related condition
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
(D2865N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign/Likely benign
RELN, SLC26A5-AS1
Microsatellite
(splice donor variant)
not provided
GUncertain significance
RELN, SLC26A5-AS1
(G2783S)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
RELN, SLC26A5-AS1
(R2738W)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+2 more
GBenign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
RELN-related condition
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
RELN
(L2596S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RELN
(E2573D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RELN
(A2545V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RELN
(N2530K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RELN
(G2480S)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN
(S2387L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN
(V2372M)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GConflicting classifications of pathogenicity
RELN
(A2371T)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign
RELN
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN
(D2309N)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GUncertain significance
RELN
(R2242S)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign
RELN
(R2216Q)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
(M2185L)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+4 more
GLikely benign
RELN
(E2174K)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN
(G2153D)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
(H2093P)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN
(V2065I)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
RELN
(A2036T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN
(S2030L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 7
+2 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RELN
(K1987N)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
(G1975S)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign/Likely benign
RELN
(V1941A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RELN
(T1904M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RELN
(I1890V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
(T1873I)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
RELN
(G1822A)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
(R1787P)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GConflicting classifications of pathogenicity
RELN
(V1784M)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GUncertain significance
RELN
(R1782C)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GConflicting classifications of pathogenicity
RELN
(A1780T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RELN
(V1762I)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
Duplication
(intron variant)
Lissencephaly, Recessive
+2 more
GConflicting classifications of pathogenicity
RELN
Deletion
(intron variant)
not specified
+1 more
GBenign
RELN
(L1734V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
(S1719L)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RELN
(P1703R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN
(V1682I)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GUncertain significance
RELN
(M1668V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
Duplication
(intron variant)
not provided
+3 more
GBenign
RELN
Deletion
(intron variant)
Familial temporal lobe epilepsy 7
+2 more
GBenign
RELN
(I1645T)
Single nucleotide variant
(missense variant)
RELN-related condition
+3 more
GBenign/Likely benign
RELN
(M1635V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
RELN-related condition
+4 more
GConflicting classifications of pathogenicity
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