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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
ATF2
(N362K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
ATF2, ATP5MC3
+9 more
Copy number loss
See cases
GLikely pathogenic
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