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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC130009879, LOC130009880
+657 more
Copy number loss
See cases
GPathogenic
LOC130010101, LOC130010102
+705 more
Copy number gain
See cases
GPathogenic
LOC126861817, LOC126861818
+344 more
Copy number gain
See cases
GPathogenic
GPC5
Copy number loss
See cases
GUncertain significance
GPC5
Copy number loss
See cases
GLikely benign
GPC5
Copy number loss
See cases
GLikely benign
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