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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RUNX2
(S17fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
RUNX2
(T200A +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysplasia 1, forme fruste, dental anomalies only
+1 more
GPathogenic
RUNX2
(R225W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
RUNX2
(R211L +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
Gnot provided
RUNX2
(R225Q +1 more)
Single nucleotide variant
(missense variant)
RUNX2-related condition
+3 more
GPathogenic
RUNX2
(R391* +3 more)
Single nucleotide variant
(nonsense)
Cleidocranial dysostosis
+1 more
GPathogenic
RUNX2
(P389fs +3 more)
Duplication
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
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