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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNMT, LRP1B
+2 more
Copy number loss
Syndromic craniosynostosis
GLikely pathogenic
CMPK2, RNF144A
+2 more
Copy number gain
Syndromic craniosynostosis
GLikely pathogenic
HDAC9, PRPS1L1
+1 more
Copy number loss
Syndromic craniosynostosis
GLikely pathogenic
ACO2, ADSL
+25 more
Copy number gain
Syndromic craniosynostosis
GLikely pathogenic
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