U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant +1 more)
RELN-related disorder
GUncertain significance
RELN, SLC26A5-AS1
(R3387K)
Single nucleotide variant
(missense variant)
RELN-related disorder
+1 more
GUncertain significance
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+2 more
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+2 more
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+3 more
GBenign
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+4 more
GConflicting classifications of pathogenicity
LOC126860130, RELN
+1 more
(E3251K)
Single nucleotide variant
(missense variant)
RELN-related disorder
+2 more
GUncertain significance
SLC26A5-AS1, RELN
Deletion
(intron variant)
RELN-related disorder
+4 more
GBenign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
RELN, SLC26A5-AS1
(K3100del)
Microsatellite
(inframe_deletion)
Norman-Roberts syndrome
+6 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
RELN-related disorder
GLikely benign
RELN, SLC26A5-AS1
Microsatellite
(intron variant)
RELN-related disorder
+2 more
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SLC26A5-AS1, RELN
(R2955C)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 7
+2 more
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
RELN-related disorder
GLikely benign
RELN, SLC26A5-AS1
Deletion
(intron variant)
not specified
+1 more
GBenign/Likely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
RELN, SLC26A5-AS1
Deletion
(intron variant)
RELN-related disorder
+4 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+3 more
GBenign/Likely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+2 more
GBenign
RELN, SLC26A5-AS1
Deletion
(intron variant)
RELN-related disorder
GUncertain significance
RELN, SLC26A5-AS1
Deletion
(intron variant)
RELN-related disorder
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+4 more
GBenign/Likely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
RELN
(A2696T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
RELN
(D2646E)
Single nucleotide variant
(missense variant)
RELN-related disorder
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+2 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
RELN
(G2621R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+2 more
GLikely benign
RELN
(S2618G)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
RELN
(S2548L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
(S2513C)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+2 more
GBenign
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
GUncertain significance
RELN
(N2418K)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
not specified
+3 more
GLikely benign
RELN
Single nucleotide variant
(intron variant)
RELN-related disorder
GLikely benign
RELN
Single nucleotide variant
(intron variant)
RELN-related disorder
GLikely benign
RELN
Deletion
(intron variant)
RELN-related disorder
GLikely benign
RELN
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
RELN
Single nucleotide variant
(intron variant)
not specified
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+3 more
GBenign
RELN
(T2321M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+2 more
GLikely benign
RELN
Duplication
(intron variant)
not specified
GLikely benign
RELN
(R2216Q)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
Insertion
(intron variant)
not specified
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
RELN
(A2049V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
GLikely benign
RELN
(M1996V)
Single nucleotide variant
(missense variant)
RELN-related disorder
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+4 more
GBenign
RELN
(I1906M)
Single nucleotide variant
(missense variant)
RELN-related disorder
+2 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+2 more
GLikely benign
RELN
(T1873I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
(E1819Q)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
(V1762I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+2 more
GLikely benign
RELN
Deletion
(intron variant)
RELN-related disorder
+1 more
GBenign
RELN
Insertion
(intron variant)
RELN-related disorder
GLikely benign
RELN
Single nucleotide variant
(intron variant)
RELN-related disorder
GLikely benign
RELN
(S1719L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(intron variant)
RELN-related disorder
+2 more
GLikely benign
RELN
(I1645T)
Single nucleotide variant
(missense variant)
RELN-related disorder
+3 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
RELN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
RELN
(G1473D)
Single nucleotide variant
(missense variant)
RELN-related disorder
GUncertain significance
RELN
(V1470I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(intron variant)
RELN-related disorder
+3 more
GConflicting classifications of pathogenicity
RELN
(G1280E)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
RELN
(N1238H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
GLikely benign
RELN
(E1207S)
Inversion
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
RELN
(N1159K)
Single nucleotide variant
(missense variant)
RELN-related disorder
+4 more
GBenign/Likely benign
RELN
Single nucleotide variant
(intron variant)
RELN-related disorder
GLikely benign
RELN
(V1086F)
Single nucleotide variant
(missense variant)
RELN-related disorder
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+5 more
GBenign/Likely benign
RELN
(L997V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GBenign
RELN
(T989I)
Single nucleotide variant
(missense variant)
RELN-related disorder
GUncertain significance
RELN
(I982T)
Single nucleotide variant
(missense variant)
RELN-related disorder
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 7
+3 more
GBenign/Likely benign
RELN
Single nucleotide variant
(intron variant)
RELN-related disorder
+2 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
RELN-related disorder
+3 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination