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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+333 more
Copy number loss
See cases
GPathogenic
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+275 more
Copy number gain
See cases
GPathogenic
BAZ2B, BAZ2B-AS1
+197 more
Copy number loss
See cases
GPathogenic
TANK-AS1, TBR1
+58 more
Copy number loss
See cases
GLikely pathogenic
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