"Baylor Genetics"[submitter] AND "SOX9"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582587	NM_000346.4(SOX9):c.326T>C (p.Met109Thr)	LOC108021846, SOX9 (M109T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
Select item 996802	NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)	SOX9 (P170A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374384	NM_000346.4(SOX9):c.1427T>C (p.Met476Thr)	SOX9 (M476T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely pathogenic

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