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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ACTBL2, ANKRD55
+269 more
Copy number loss
See cases
GPathogenic
LOC129993982, LOC129993983
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
DEPDC1B, DIMT1
+49 more
Copy number loss
See cases
GPathogenic
DIMT1, IPO11
+16 more
Copy number gain
See cases
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(Q5K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(S7F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(Q37H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R47P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(S53I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(T62I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(T81R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(S85F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(I96M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(F114L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R122C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(G126R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(P148L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R167C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R167H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(A207P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(G212R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(S213T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(N222D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(S229R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(P245S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R263T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R265K)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IPO11, IPO11-LRRC70
+1 more
(H280R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(S284R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(H285R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(N301D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(K306T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(I315T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(A325S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(S349F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(Q386R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R394G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R397H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IPO11, IPO11-LRRC70
+1 more
(I409R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(V417I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(T428P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(A429V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(H435R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(T439I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(T460I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(N470S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(D505V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(C517Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(I536V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(I542T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(K548R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(F572L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(T587A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(P589S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(L592P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
+1 more
(R601Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IPO11, IPO11-LRRC70
(Q864H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
(I911T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
(N912S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
(G877S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
(M882V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
(M937I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IPO11, IPO11-LRRC70
(E990G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
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