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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RUNX2
(Q290* +1 more)
Single nucleotide variant
(nonsense)
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
+1 more
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
Duplication
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
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
RUNX2
(G511S +3 more)
Single nucleotide variant
(missense variant)
Cleidocranial dysostosis
+2 more
GBenign/Likely benign
RUNX2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
LOC109611589, LOC129996578
+2 more
Duplication
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
GPathogenic
RUNX2
(R225Q +1 more)
Single nucleotide variant
(missense variant)
RUNX2-related condition
+3 more
GPathogenic
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