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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057806, LOC130057807
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
ADAMTSL3, ALPK3
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC130057831, LOC130057832
+664 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ALPK3, LINC00933
+42 more
Copy number loss
See cases
GUncertain significance
LOC130057805, LOC130057806
+40 more
Copy number gain
See cases
GUncertain significance
ALPK3, LINC00933
+41 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+40 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+42 more
Copy number loss
See cases
GUncertain significance
ALPK3, LINC00933
+39 more
Deletion
not provided
GUncertain significance
LINC00933, LOC105370947
+5 more
Copy number gain
See cases
GLikely benign
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