"Eurofins Ntd Llc (ga)"[submitter] AND "LOC109611589"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497059	NM_001024630.4(RUNX2):c.159_185del (p.Gln63_Gln71del)	LOC109611589, RUNX2	Deletion (inframe_deletion)	not specified	GLikely benign
Select item 500283	NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys)	LOC109611589, RUNX2 (Q51K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 196302	NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 257095	NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)	LOC109611589, RUNX2	Microsatellite (inframe_deletion)	not specified +2 more	GBenign/Likely benign
Select item 196301	NM_001024630.4(RUNX2):c.240G>A (p.Ala80=)	LOC109611589, RUNX2	Single nucleotide variant (synonymous variant)	Cleidocranial dysostosis +2 more	GBenign

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