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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065344, LOC130065345
+455 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+833 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
SPEF1, SPTLC3
+571 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
LOC105372493, LOC105372524
+579 more
Copy number gain
See cases
GPathogenic
LOC126863004, LOC126863005
+814 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+581 more
Copy number gain
See cases
GPathogenic
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
ANKEF1, BMP2
+109 more
Copy number loss
See cases
GPathogenic
ANKEF1, BTBD3
+87 more
Copy number gain
See cases
GUncertain significance
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
ESF1, FLRT3
+26 more
Copy number gain
See cases
GUncertain significance
ISM1, ISM1-AS1
+14 more
Copy number gain
See cases
GLikely benign
ISM1, ISM1-AS1
+14 more
Copy number gain
See cases
GUncertain significance
ISM1, ISM1-AS1
+14 more
Copy number loss
See cases
GUncertain significance
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