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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD4, ANG
+312 more
Copy number loss
See cases
GPathogenic
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
TRDC, TRDD1
+859 more
Copy number gain
See cases
GPathogenic
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC130055370, LOC130055371
+840 more
Copy number loss
See cases
GPathogenic
ABHD4, ACIN1
+529 more
Copy number gain
See cases
GLikely pathogenic
ABHD4, ARHGEF40
+242 more
Copy number gain
See cases
GUncertain significance
LOC112214171, LOC121838587
+74 more
Copy number loss
See cases
GBenign
LOC112214171, LOC121838587
+85 more
Copy number loss
See cases
GBenign
LOC121838587, LOC130055288
+38 more
Copy number loss
See cases
GBenign
LOC121838587, LOC130055288
+35 more
Copy number loss
See cases
GBenign
DAD1, LINC02332
+123 more
Copy number loss
See cases
GBenign
LOC112214171, LOC126861891
+44 more
Copy number loss
See cases
GBenign
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