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Items: 1 to 100 of 107

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMC3
Single nucleotide variant
(splice acceptor variant)
Cornelia de Lange syndrome 3
GLikely pathogenic
ANKRD11
(K453*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(E53fs)
Deletion
(frameshift variant +1 more)
KBG syndrome
GPathogenic
ANKRD11
(S429*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ANKRD11
(T1504fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(E1010*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(R2340fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(D1429fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(I721fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(K400fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
Single nucleotide variant
(splice acceptor variant)
KBG syndrome
GLikely pathogenic
ANKRD11
Deletion
KBG syndrome
GLikely pathogenic
ANKRD11
(D798fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(N1550fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ACSF3, ANKRD11
+21 more
Deletion
KBG syndrome
GPathogenic
ANKRD11
(D549fs)
Microsatellite
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(G1383fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(S729fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(C1339fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(K1842*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(N2100fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(D1196fs)
Microsatellite
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(G108fs)
Deletion
(frameshift variant +1 more)
KBG syndrome
GPathogenic
ANKRD11
(S935fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(I1042fs)
Microsatellite
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(S2060fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(E943fs)
Microsatellite
(frameshift variant)
KBG syndrome
+1 more
GPathogenic/Likely pathogenic
ANKRD11
(R2328*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic/Likely pathogenic
ANKRD11
(E675fs)
Duplication
(frameshift variant)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(D1081fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(K93fs)
Deletion
(frameshift variant +1 more)
KBG syndrome
GPathogenic
ANKRD11
(E697fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(K1457fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(L1080fs)
Microsatellite
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(D578*)
Duplication
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(P1447fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(Y2015*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(S870fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(Q1313fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(Q1812*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
NIPBL
(V2106L)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
+3 more
GConflicting classifications of pathogenicity
SMC1A
(R564W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ANKRD11
Single nucleotide variant
(splice acceptor variant)
KBG syndrome
GLikely pathogenic
ANKRD11
(E190*)
Single nucleotide variant
(nonsense +1 more)
KBG syndrome
GPathogenic
ANKRD11
Deletion
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(S2208*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(G2108fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(D723fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(E2204fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(A2258fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
Single nucleotide variant
(splice acceptor variant)
KBG syndrome
GLikely pathogenic
ANKRD11
(K1107fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ANKRD11
(Q2398*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ANKRD11
(S2355fs)
Duplication
(frameshift variant)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(T1707fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(Y1715*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
NIPBL
(G1861V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 1
GUncertain significance
ANKRD11
(R440*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RAD21
(G408*)
Single nucleotide variant
(nonsense)
Cornelia de Lange syndrome 4
+1 more
GPathogenic
SMC3
(Q1147E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
ANKRD11
(R1311*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ANKRD11
(E1945*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(S1745fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(Y659*)
Duplication
(nonsense)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(R838*)
Single nucleotide variant
(nonsense)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(D1073fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(R493fs)
Deletion
(frameshift variant)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(S2011fs)
Deletion
(frameshift variant)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(E1927fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
ANKRD11
(K1464fs)
Microsatellite
(frameshift variant)
KBG syndrome
+2 more
GPathogenic
ANKRD11
(R2230fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ANKRD11
(R906*)
Single nucleotide variant
(nonsense)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(Q541*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(R458*)
Single nucleotide variant
(nonsense)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(R1895fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(L758fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(N819*)
Duplication
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(E461fs)
Microsatellite
(frameshift variant)
Global developmental delay
+3 more
GPathogenic/Likely pathogenic
ANKRD11
(R898*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
ANKRD11, LOC105371414
Deletion
KBG syndrome
GPathogenic
ANKRD11
(K1237fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(A2323fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ANKRD11
(R54*)
Single nucleotide variant
(nonsense +1 more)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(K1235fs)
Deletion
(frameshift variant)
ANKRD11-related disorder
+2 more
GPathogenic
ANKRD11
(S488fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic
ANKRD11
(A2265fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
ANKRD11
(V2279fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
ANKRD11
(F2066*)
Indel
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(R2328fs)
Duplication
(frameshift variant)
KBG syndrome
+1 more
GPathogenic/Likely pathogenic
ANKRD11
(E2224*)
Single nucleotide variant
(nonsense)
KBG syndrome
GPathogenic
ANKRD11
(E1075fs)
Microsatellite
(frameshift variant)
KBG syndrome
+1 more
GPathogenic
ANKRD11
(P2073fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
ANKRD11
(R733*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ANKRD11
(R1462fs)
Duplication
(frameshift variant)
See cases
+3 more
GPathogenic
ANKRD11
(R601*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
ANKRD11
(K635fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+11 more
GPathogenic/Likely pathogenic
ANKRD11
(K803fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
ANKRD11
(N725fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ANKRD11
(G2006fs)
Duplication
(frameshift variant)
KBG syndrome
GPathogenic
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