ClinVar for MedGen (Select 762788) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1405763	NM_001024630.4(RUNX2):c.868C>T (p.Gln290Ter)	RUNX2 (Q290* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1071563	NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp)	RUNX2 (R176W +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +3 more	GPathogenic
Select item 1032545	NM_001024630.4(RUNX2):c.863C>T (p.Pro288Leu)	RUNX2 (P288L +1 more)	Single nucleotide variant (missense variant)	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more	GUncertain significance
Select item 691870	NM_001024630.3:c.(58+1_59-269)_(859+1_860-1)dup	RUNX2	Duplication	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	GPathogenic
Select item 634441	NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu)	RUNX2 (P460L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 548612	NM_001024630.4(RUNX2):c.217del (p.Ala73fs)	LOC109611589, RUNX2 (A59fs +1 more)	Deletion (frameshift variant)	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more	GConflicting classifications of pathogenicity
Select item 548611	NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs)	LOC109611589, RUNX2 (A79fs +1 more)	Insertion (frameshift variant)	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more	GUncertain significance
Select item 357096	NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser)	RUNX2 (G511S +3 more)	Single nucleotide variant (missense variant)	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +2 more	GBenign/Likely benign
Select item 257096	NM_001024630.4(RUNX2):c.423+39G>C	RUNX2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 40202	NC_000006.12:g.45341183_45446148dup	LOC109611589, LOC129996578 +2 more	Duplication	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	GPathogenic
Select item 9302	NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)	RUNX2 (R225Q +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +2 more	GPathogenic