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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+179 more
Copy number gain
See cases
GUncertain significance
A1BG, A1BG-AS1
+215 more
Copy number gain
See cases
GPathogenic
ZNF460
(S12C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF460
(L8M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(P17S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(L35F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(Y48C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(D95N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(P72S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(K117N +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF460
(M135T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(V143A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(P182L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(R244Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(T227R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(R231Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(R363L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(N371S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF460
(G441R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(E464K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(N511K +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF460
(V471I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(T498M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF460
(A503V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
VN1R1, AURKC
+14 more
Copy number loss
not provided
GUncertain significance
ZNF805, ZNF17
+11 more
Duplication
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, AURKC
+64 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
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