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Items: 57

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
ZNF585A
(V763I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF585A
(T684A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(N732S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(Q651R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(A587T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(A582T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(T574R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(R589H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(R589C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(N483S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(N525S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF585A
(T517A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(H457R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(K446R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(R423L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(R423Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(M467V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(T393I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(G389E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(G441R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(P382S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(T337P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(Y327C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(T302I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(S353F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(E275K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(R318H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(R263C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(T293S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(A223T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(I216V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(H232R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(K157N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(H93P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(A133T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(S57T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF585A
(G89A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF585A
(S65A +1 more)
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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