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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
ANKRD27, C19orf12
+210 more
Copy number gain
See cases
GUncertain significance
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ANKRD27, CD22
+193 more
Copy number loss
See cases
GPathogenic
ANKRD27, DPY19L3
+19 more
Copy number loss
See cases
GUncertain significance
ANKRD27
(R1020G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(N999Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(G991R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD27
(P964A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(T952I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(W923S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(D881N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(R875Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(E860K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(V859I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(P803S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S799L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(K794T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(N769D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(P761S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(A757V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD27
(R756P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(H754R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(A752V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(A752S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(P747L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S741N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANKRD27
(V739M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(R726G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(P713L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANKRD27
(L688V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(V685L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S638F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(R637L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S628F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S628P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S627T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S627P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(R623S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(R574H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(H570R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S555L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(Y551H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(Y550H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(A547S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(T531M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(E523Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(A522V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(A522S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(L481F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(D480N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(Q475E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(H468L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(T455I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(L448F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(A406P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(P371R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(P371T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(L343S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD27
(R339M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(I335T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(T323A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(S297C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(L271P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(E270G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(Q251E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(M231V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(V228L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(V212L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(K209R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(H194N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(C166R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(F159L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(E150K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(K136E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(N102S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(K40E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(I34L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD27
(R21H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ANKRD27, CEBPA
+17 more
Copy number gain
not provided
GUncertain significance
ANKRD27, NUDT19
+2 more
Copy number loss
not specified
GUncertain significance
ANKRD27, CEBPA
+28 more
Copy number gain
not specified
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ANKRD27, ATP4A
+58 more
Copy number gain
See cases
GPathogenic
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