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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC109611589, RUNX2
(Q57* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
RUNX2
(G132R +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
RUNX2
(A152fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
RUNX2
(R179* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RUNX2
(D463fs +3 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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