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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
LOC130057907, LOC130057908
+630 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
MIR11181, MIR1179
+517 more
Copy number gain
See cases
GPathogenic
LOC130057997, LOC130057998
+500 more
Copy number gain
See cases
GPathogenic
LOC130057929, LOC130057930
+311 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
AP3S2, ARPIN
+29 more
Copy number loss
See cases
GLikely benign
ZNF710, ZNF710-AS1
(L614V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF710, ZNF710-AS1
(S620A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF710, ZNF710-AS1
(A645T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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