"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC108021 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 705752	NM_000346.4(SOX9):c.48G>A (p.Lys16=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	SOX9-related disorder +2 more	GLikely benign
Select item 3032236	NM_000346.4(SOX9):c.66del (p.Ser23fs)	LOC108021846, SOX9 (S23fs)	Deletion (frameshift variant)	SOX9-related disorder	GLikely pathogenic
Select item 700391	NM_000346.4(SOX9):c.76A>G (p.Met26Val)	LOC108021846, SOX9 (M26V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +2 more	GBenign/Likely benign
Select item 2630008	NM_000346.4(SOX9):c.164dup (p.Glu57fs)	LOC108021846, SOX9 (E57fs)	Duplication (frameshift variant)	SOX9-related disorder	GPathogenic
Select item 2630717	NM_000346.4(SOX9):c.310C>G (p.His104Asp)	LOC108021846, SOX9 (H104D)	Single nucleotide variant (missense variant)	SOX9-related disorder	GUncertain significance
Select item 520782	NM_000346.4(SOX9):c.331G>A (p.Ala111Thr)	LOC108021846, SOX9 (A111T)	Single nucleotide variant (missense variant)	SOX9-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2720198	NM_000346.4(SOX9):c.431+8C>T	LOC108021846, SOX9	Single nucleotide variant (intron variant)	SOX9-related disorder +1 more	GLikely benign
Select item 3047323	NM_000346.4(SOX9):c.431+10G>A	LOC108021846, SOX9	Single nucleotide variant (intron variant)	SOX9-related disorder	GLikely benign

ClinVar