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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR2A, EPC2
+54 more
Copy number loss
See cases
GPathogenic
ACVR2A, EPC2
+32 more
Copy number gain
See cases
GUncertain significance
KIF5C, LOC129934896
Single nucleotide variant
not provided
GLikely benign
KIF5C, LOC129934896
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
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