"Eurofins Ntd Llc (ga)"[submitter] AND "SOX9"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 502493	NM_000346.4(SOX9):c.15C>T (p.Asp5=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282933	NM_000346.4(SOX9):c.316A>G (p.Lys106Glu)	LOC108021846, SOX9 (K106E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286974	NM_000346.4(SOX9):c.356C>A (p.Ala119Glu)	LOC108021846, SOX9 (A119E)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GUncertain significance
Select item 235914	NM_000346.4(SOX9):c.507C>G (p.His169Gln)	SOX9 (H169Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 21164	NM_000346.4(SOX9):c.507C>T (p.His169=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +3 more	GBenign
Select item 195066	NM_000346.4(SOX9):c.519G>A (p.Lys173=)	SOX9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 195067	NM_000346.4(SOX9):c.530G>A (p.Arg177Gln)	SOX9 (R177Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287629	NM_000346.4(SOX9):c.531G>A (p.Arg177=)	SOX9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195068	NM_000346.4(SOX9):c.535A>G (p.Arg179Gly)	SOX9 (R179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500285	NM_000346.4(SOX9):c.685+7C>T	SOX9	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
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 502469	NM_000346.4(SOX9):c.686-8del	SOX9	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593386	NM_000346.4(SOX9):c.737A>C (p.Gln246Pro)	SOX9 (Q246P)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GUncertain significance
Select item 497284	NM_000346.4(SOX9):c.781G>T (p.Glu261Ter)	SOX9 (E261*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 287275	NM_000346.4(SOX9):c.918G>A (p.Val306=)	SOX9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290766	NM_000346.4(SOX9):c.1029G>A (p.Pro343=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GConflicting classifications of pathogenicity
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)	Camptomelic dysplasia +3 more	GBenign
Select item 499139	NM_000346.4(SOX9):c.1212C>T (p.Pro404=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 288215	NM_000346.4(SOX9):c.1249C>T (p.Gln417Ter)	SOX9 (Q417*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 281612	NM_000346.4(SOX9):c.1288C>T (p.Pro430Ser)	SOX9 (P430S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 324920	NM_000346.4(SOX9):c.1503C>T (p.Pro501=)	SOX9	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign

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Items: 22