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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TWIST1
(K133I)
Indel
(missense variant +1 more)
Coronal craniosynostosis
GUncertain significance
TWIST1
(A127T)
Single nucleotide variant
(missense variant +1 more)
Coronal craniosynostosis
GUncertain significance
TCF12
Single nucleotide variant
(splice donor variant)
Coronal craniosynostosis
GLikely pathogenic
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