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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
LINC01535, LOC112543487
+28 more
Copy number loss
See cases
GUncertain significance
ZNF585B
(A769T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF585B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF585B
(V756I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(V719M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(G640R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(R589H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(R589C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(T581P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(R506S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(I495V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(R478W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(Y466F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(K439T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(T427A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF585B
(F391L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(V334F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(I327V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(R318H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(N302K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(K296E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(R289Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(K258N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(A250T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(S217R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(G210R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(E183Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(H176Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(K170R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(L157F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(P152H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF585B
(F135L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(E131K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(Y124F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(R93H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF585B
(R93C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(P84S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(P73A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF585B
(D31E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(V27A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(G20S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585B
(Q9R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ZFP14, ZFP82
+15 more
Copy number loss
not provided
GUncertain significance
SIPA1L3, WDR87
+17 more
Copy number gain
not provided
GUncertain significance
ZNF260, ZNF345
+12 more
Copy number loss
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
ALKBH6, APLP1
+79 more
Copy number loss
Generalized epilepsy with febrile seizures plus, type 1
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ZNF383, ZNF420
+3 more
Copy number loss
See cases
GUncertain significance
SIPA1L3, ALKBH6
+41 more
Copy number gain
See cases
GUncertain significance
DPF1, DYRK1B
+105 more
Copy number gain
See cases
GPathogenic
DPF1, SIPA1L3
+31 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
SIPA1L3, WDR87
+30 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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