"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21164	NM_000346.4(SOX9):c.507C>T (p.His169=)	SOX9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 195069	NM_000346.4(SOX9):c.685+8G>A	SOX9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 931834	NM_000346.4(SOX9):c.710dup (p.Pro238fs)	SOX9 (P238fs)	Duplication (frameshift variant)	Camptomelic dysplasia	GUncertain significance
Select item 695192	NM_000346.4(SOX9):c.711A>C (p.Pro237=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 1206156	NM_000346.4(SOX9):c.715A>C (p.Thr239Pro)	SOX9 (T239P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206147	NM_000346.4(SOX9):c.718A>C (p.Thr240Pro)	SOX9 (T240P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 196257	NM_000346.4(SOX9):c.1113G>A (p.Ala371=)	SOX9	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign

ClinVar