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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC109611589, RUNX2
(Q44fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
(N106K +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GPathogenic