"Revvity Omics, Revvity"[submitter] AND "SOX9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323635	NM_000346.4(SOX9):c.124dup (p.Asp42fs)	LOC108021846, SOX9 (D42fs)	Duplication (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 2690060	NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)	SOX9 (R152G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2138103	NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)	SOX9 (R152P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235914	NM_000346.4(SOX9):c.507C>G (p.His169Gln)	SOX9 (H169Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1540301	NM_000346.4(SOX9):c.739C>A (p.Pro247Thr)	SOX9 (P247T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GConflicting classifications of pathogenicity
Select item 2433674	NM_000346.4(SOX9):c.829G>T (p.Glu277Ter)	SOX9 (E277*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GLikely pathogenic
Select item 2436266	NM_000346.4(SOX9):c.904G>A (p.Gly302Ser)	SOX9 (G302S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2081422	NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)	SOX9 (P367A)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GConflicting classifications of pathogenicity

ClinVar