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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
LOC129995188, LOC129995189
+863 more
Copy number gain
See cases
GPathogenic
LOC129995377, LOC129995378
+676 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+622 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+386 more
Copy number loss
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
LOC129995388, LOC129995389
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
LOC129995374, LOC129995375
+136 more
Copy number loss
See cases
GPathogenic
LOC129995362, LOC129995363
+142 more
Copy number loss
See cases
GPathogenic
ARL10, CDHR2
+129 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+141 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+137 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+134 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+140 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+172 more
Copy number loss
See cases
GPathogenic
LOC129995352, LOC129995353
+65 more
Copy number loss
Sotos syndrome
GPathogenic
CDHR2, EIF4E1B
+71 more
Duplication
5q35 microduplication syndrome
GPathogenic
LOC129995366, LOC129995367
+113 more
Copy number loss
See cases
GPathogenic
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