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Links from MedGen

Items: 1 to 100 of 160

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RUNX2
Single nucleotide variant
(splice donor variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
(S177G +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
(T101fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
LOC109611589, RUNX2
(Q44fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
(F340fs +3 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
Single nucleotide variant
(splice acceptor variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(N106K +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(K120E +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
(R155Q +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(P281fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(L122fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
Single nucleotide variant
(splice acceptor variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(R211L +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
Gnot provided
RUNX2
(S298F +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
(S233fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(Q287* +1 more)
Single nucleotide variant
(nonsense)
Cleidocranial dysostosis
GPathogenic
RUNX2
(Q347* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cleidocranial dysostosis
GPathogenic
RUNX2
(A166E +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(R176W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
RUNX2
(P288L +1 more)
Single nucleotide variant
(missense variant)
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
+1 more
GUncertain significance
RUNX2
(Y199fs +1 more)
Duplication
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
Deletion
(splice donor variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
(F362fs +3 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
LOC109611589, RUNX2
(Q57* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
RUNX2
(S17fs +1 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
Indel
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
RUNX2, SUPT3H
(T11fs)
Duplication
(frameshift variant +2 more)
Cleidocranial dysostosis
GPathogenic
RUNX2
(V148fs +1 more)
Indel
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(G392fs +3 more)
Deletion
(frameshift variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(G327V +3 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
(R155W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
LOC109611589, RUNX2
(Q54fs +1 more)
Indel
(frameshift variant)
Cleidocranial dysostosis
GLikely pathogenic
RUNX2
Single nucleotide variant
(intron variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
(P366S +3 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
(P299Q +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
+1 more
GUncertain significance
RUNX2
(T191A +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
(M161V +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
+1 more
GConflicting classifications of pathogenicity
RUNX2
(D147N +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
+1 more
GUncertain significance
RUNX2
(R100S +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GUncertain significance
LOC109611589, RUNX2
(Q45R +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
+1 more
GConflicting classifications of pathogenicity
RUNX2
(V42L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RUNX2, SUPT3H
Single nucleotide variant
(synonymous variant +2 more)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
+1 more
GConflicting classifications of pathogenicity
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
+1 more
GBenign/Likely benign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
(R179* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RUNX2
(C123Y +1 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
(S124* +1 more)
Single nucleotide variant
(nonsense)
Cleidocranial dysostosis
GPathogenic
RUNX2
Single nucleotide variant
(synonymous variant)
Cleidocranial dysostosis
GPathogenic
RUNX2
(P460L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC109611589, RUNX2
(A59fs +1 more)
Deletion
(frameshift variant)
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
+1 more
GConflicting classifications of pathogenicity
LOC109611589, RUNX2
(A79fs +1 more)
Insertion
(frameshift variant)
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
+1 more
GUncertain significance
LOC109611589, RUNX2
Microsatellite
(inframe_insertion)
Cleidocranial dysostosis
+1 more
GUncertain significance
RUNX2
Single nucleotide variant
Cleidocranial dysostosis
GPathogenic
RUNX2
(R190Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
+1 more
GConflicting classifications of pathogenicity
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Deletion
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Deletion
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Microsatellite
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GUncertain significance
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GBenign
RUNX2
Single nucleotide variant
(3 prime UTR variant)
Cleidocranial dysostosis
GLikely benign
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