"Illumina Laboratory Services, Illumina"[submitter] AND "SOX9"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973323	NM_000346.4(SOX9):c.503A>G (p.Asp168Gly)	SOX9 (D168G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 324918	NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup)	SOX9	Microsatellite (inframe_insertion)	Camptomelic dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 324929	NM_000346.4(SOX9):c.*744dup	SOX9	Duplication (3 prime UTR variant)	Camptomelic dysplasia	GUncertain significance
Select item 324930	NM_000346.4(SOX9):c.*744del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia	GLikely benign
Select item 324935	NM_000346.4(SOX9):c.932_933del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 324939	NM_000346.4(SOX9):c.*1164del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia	GUncertain significance
Select item 324940	NM_000346.4(SOX9):c.*1167del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia	GUncertain significance
Select item 324941	NM_000346.4(SOX9):c.*1183del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia	GUncertain significance
Select item 324942	NM_000346.4(SOX9):c.1523_1528del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia	GUncertain significance
Select item 324948	NM_000346.4(SOX9):c.*1989dup	SOX9	Duplication (3 prime UTR variant)	Camptomelic dysplasia	GUncertain significance
Select item 324950	NM_000346.4(SOX9):c.1988_1989del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia	GUncertain significance
Select item 324949	NM_000346.4(SOX9):c.*1989del	SOX9	Deletion (3 prime UTR variant)	Camptomelic dysplasia	GBenign