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Links from MedGen

Items: 1 to 100 of 1216

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIPBL
(V1424fs)
Duplication
(frameshift variant)
Cornelia de Lange syndrome 1
GLikely pathogenic
NIPBL
(A1183fs)
Duplication
(frameshift variant)
Cornelia de Lange syndrome 1
GPathogenic
NIPBL
(G2351del)
Deletion
(inframe deletion)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(V2459L)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(I570fs)
Deletion
(frameshift variant)
Cornelia de Lange syndrome 1
GLikely pathogenic
NIPBL
(Q2232E)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(K927fs)
Deletion
(frameshift variant)
NIPBL-related condition
+1 more
GPathogenic/Likely pathogenic
NIPBL
(Q1776R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GPathogenic
NIPBL
(T35A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(S1150N)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(K1034R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(L1669I)
Single nucleotide variant
(missense variant)
NIPBL-related condition
+1 more
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
NIPBL-related condition
+1 more
GBenign/Likely benign
NIPBL
(D1095A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(C1391S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(E2636del)
Microsatellite
(inframe_deletion)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(N1744D)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Deletion
(5 prime UTR variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(L297V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(V2379I)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(T196S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(Q298L)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(H1705Y)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(M1535V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(L866P)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(L65V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(R710Q)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Deletion
(intron variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant +1 more)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
NIPBL-related condition
+1 more
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(T1918A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(P1576T)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(Y1676C)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(N2415S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(T1409A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(P2500L)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(N820del)
Microsatellite
(inframe_deletion)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(A2777S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(D2764G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(D2517N)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(P397L)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(I390T)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(K802E)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Deletion
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(M344I)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(Q582R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Insertion
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
Deletion
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(Q1178R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
+1 more
GConflicting classifications of pathogenicity
NIPBL
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(P606S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(T773A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(R1682Q)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
(D1153E)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
NIPBL
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 1
GLikely benign
NIPBL
(L1570R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
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