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Links from MedGen

Items: 1 to 100 of 2889

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RELN
Deletion
Norman-Roberts syndrome
+1 more
GLikely pathogenic
RELN
Deletion
Norman-Roberts syndrome
+1 more
GPathogenic
RELN, SLC26A5-AS1
(Q3431* +1 more)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
GLikely pathogenic
RELN, SLC26A5-AS1
(S3389fs)
Deletion
(frameshift variant)
Norman-Roberts syndrome
GLikely pathogenic
RELN, SLC26A5-AS1
(T2885I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
GUncertain significance
RELN
Single nucleotide variant
(splice donor variant)
Norman-Roberts syndrome
GPathogenic
RELN
(F736C)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(G2101R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(M1635T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(H2006L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN, SLC26A5-AS1
Duplication
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Deletion
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(I1623T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(splice donor variant)
Norman-Roberts syndrome
+1 more
GLikely pathogenic
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(Q1534R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(M1860T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(E2263*)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
+1 more
GPathogenic
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(Y1172C)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(T1516S)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(G2690R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(A2284T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(N1528D)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(V2091F)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(N2373H)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(W2845L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
LOC126860130, RELN
+1 more
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(L1258V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(W3418R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(I1869R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(S2062N)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(A287T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(splice donor variant)
Norman-Roberts syndrome
+1 more
GLikely pathogenic
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(S1282L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Microsatellite
(nonsense)
Norman-Roberts syndrome
+1 more
GPathogenic
RELN
(S281R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(V1658M)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(V98I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(Q2681*)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
+1 more
GPathogenic
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(A2394T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(S1014N)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(H2710Q)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(G3296E)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
LOC126860130, RELN
+1 more
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Deletion
(intron variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN, SLC26A5-AS1
(K2839R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(P2629L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(L2415V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(L2256P)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(D2352N)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(Y30C)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
(R1286*)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
+1 more
GPathogenic
RELN
(L644P)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(E2900*)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
+1 more
GPathogenic
LOC126860131, RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN, SLC26A5-AS1
(P2798S)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
LOC126860130, RELN
+1 more
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN, SLC26A5-AS1
(C2800R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(L950V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(P2339Q)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(V306A)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(P2628T)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(I1091L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(A2846V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+1 more
GLikely benign
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
(T1859I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+1 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+1 more
GBenign
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