"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702493	NM_000346.4(SOX9):c.68del (p.Ser23fs)	LOC108021846, SOX9 (S23fs)	Deletion (frameshift variant)	Connective tissue disorder	GLikely pathogenic
Select item 1702491	NM_000346.4(SOX9):c.320G>A (p.Arg107Gln)	LOC108021846, SOX9 (R107Q)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1702492	NM_000346.4(SOX9):c.432-3C>A	SOX9	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 21164	NM_000346.4(SOX9):c.507C>T (p.His169=)	SOX9	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign
Select item 195069	NM_000346.4(SOX9):c.685+8G>A	SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia +3 more	GBenign/Likely benign
Select item 1702494	NM_000346.4(SOX9):c.916G>T (p.Val306Leu)	SOX9 (V306L)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 618379	NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser)	SOX9 (P345S)	Single nucleotide variant (missense variant)	SOX9-related disorder +3 more	GBenign/Likely benign
Select item 1702488	NM_000346.4(SOX9):c.1095_1115del (p.364AAPPQQP[1])	SOX9	Deletion (inframe_deletion)	Connective tissue disorder	GUncertain significance
Select item 285254	NM_000346.4(SOX9):c.1092G>A (p.Ala364=)	SOX9	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GUncertain significance
Select item 196257	NM_000346.4(SOX9):c.1113G>A (p.Ala371=)	SOX9	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign
Select item 1702489	NM_000346.4(SOX9):c.1132C>T (p.Gln378Ter)	SOX9 (Q378*)	Single nucleotide variant (nonsense)	Connective tissue disorder	GLikely pathogenic
Select item 2510	NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter)	SOX9 (Y440*)	Single nucleotide variant (nonsense)	Connective tissue disorder +1 more	GPathogenic
Select item 1702490	NM_000346.4(SOX9):c.1379_1380dup (p.Gly461fs)	SOX9 (G461fs)	Duplication (frameshift variant)	Connective tissue disorder	GLikely pathogenic