"GeneDx"[submitter] AND "SOX9"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1196892	NC_000017.11:g.72120679GC[5]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GLikely benign
Select item 1264490	NC_000017.11:g.72120684_72120685insGCAC	LOC108021846, SOX9 +1 more	Insertion	not provided	GBenign
Select item 1229218	NC_000017.11:g.72120684CA[12]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GBenign
Select item 1199135	NC_000017.11:g.72120684_72120685insGCACAC	LOC108021846, SOX9 +1 more	Insertion	not provided	GLikely benign
Select item 1284079	NC_000017.11:g.72120684CA[10]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GBenign
Select item 152566	GRCh38/hg38 17q24.3(chr17:72120958-72123189)x3	LOC108021846, SOX9	Copy number gain	See cases	GBenign
Select item 324902	NM_000346.4(SOX9):c.-169G>A	LOC108021846, SOX9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign/Likely benign
Select item 324903	NM_000346.4(SOX9):c.-156T>A	LOC108021846, SOX9	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1290975	NM_000346.4(SOX9):c.-83G>A	LOC108021846, SOX9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2183871	NM_000346.4(SOX9):c.16C>T (p.Pro6Ser)	LOC108021846, SOX9 (P6S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 507525	NM_000346.4(SOX9):c.18C>T (p.Pro6=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GLikely benign
Select item 705752	NM_000346.4(SOX9):c.48G>A (p.Lys16=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GLikely benign
Select item 1217940	NM_000346.4(SOX9):c.181AAG[1] (p.Lys62del)	LOC108021846, SOX9 (K62del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3373081	NM_000346.4(SOX9):c.216C>T (p.Cys72=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1706148	NM_000346.4(SOX9):c.226G>T (p.Ala76Ser)	LOC108021846, SOX9 (A76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304243	NM_000346.4(SOX9):c.247G>A (p.Gly83Ser)	LOC108021846, SOX9 (G83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546496	NM_000346.4(SOX9):c.272dup (p.Met91fs)	LOC108021846, SOX9 (M91fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 378637	NM_000346.4(SOX9):c.276G>T (p.Pro92=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1254813	NM_000346.4(SOX9):c.337A>G (p.Met113Val)	LOC108021846, SOX9 (M113V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GPathogenic
Select item 392305	NM_000346.4(SOX9):c.370G>C (p.Ala124Pro)	LOC108021846, SOX9 (A124P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499969	NM_000346.4(SOX9):c.396C>G (p.Asn132Lys)	LOC108021846, SOX9 (N132K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453015	NM_000346.4(SOX9):c.413C>A (p.Thr138Lys)	LOC108021846, SOX9 (T138K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 151583	GRCh38/hg38 17q24.3(chr17:72122288-72124232)x3	LOC108021846, SOX9	Copy number gain	See cases	GBenign
Select item 667624	NM_000346.4(SOX9):c.432-161G>A	LOC108021846, SOX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 279897	NM_000346.4(SOX9):c.442G>T (p.Glu148Ter)	SOX9 (E148*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2138103	NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)	SOX9 (R152P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3343201	NM_000346.4(SOX9):c.464T>G (p.Val155Gly)	SOX9 (V155G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191722	NM_000346.4(SOX9):c.473C>T (p.Ala158Val)	SOX9 (A158V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 373438	NM_000346.4(SOX9):c.479G>C (p.Arg160Pro)	SOX9 (R160P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 387272	NM_000346.4(SOX9):c.480G>A (p.Arg160=)	SOX9	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3338856	NM_000346.4(SOX9):c.494A>C (p.His165Pro)	SOX9 (H165P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1485794	NM_000346.4(SOX9):c.508C>A (p.Pro170Thr)	SOX9 (P170T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 559879	NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)	SOX9 (P170S)	Single nucleotide variant (missense variant)	Campomelic dysplasia with autosomal sex reversal +3 more	GPathogenic/Likely pathogenic
Select item 3252744	NM_000346.4(SOX9):c.509C>G (p.Pro170Arg)	SOX9 (P170R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 429733	NM_000346.4(SOX9):c.509C>T (p.Pro170Leu)	SOX9 (P170L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 620560	NM_000346.4(SOX9):c.522C>A (p.Tyr174Ter)	SOX9 (Y174*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 419613	NM_000346.4(SOX9):c.522C>G (p.Tyr174Ter)	SOX9 (Y174*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3252142	NM_000346.4(SOX9):c.524A>G (p.Gln175Arg)	SOX9 (Q175R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432189	NM_000346.4(SOX9):c.526C>T (p.Pro176Ser)	SOX9 (P176S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 451006	NM_000346.4(SOX9):c.527C>G (p.Pro176Arg)	SOX9 (P176R)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GLikely pathogenic
Select item 1164035	NM_000346.4(SOX9):c.529C>T (p.Arg177Trp)	SOX9 (R177W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 265652	NM_000346.4(SOX9):c.555del (p.Gln186fs)	SOX9 (Q186fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 546497	NM_000346.4(SOX9):c.628del (p.Asp210fs)	SOX9 (D210fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 667625	NM_000346.4(SOX9):c.685+132C>G	SOX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817191	NM_000346.4(SOX9):c.723del (p.Thr243fs)	SOX9 (T243fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 418969	NM_000346.4(SOX9):c.738del (p.Gln246fs)	SOX9 (Q246fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2505010	NM_000346.4(SOX9):c.763G>A (p.Glu255Lys)	SOX9 (E255K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817208	NM_000346.4(SOX9):c.825dup (p.Gly276fs)	SOX9 (G276fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 696172	NM_000346.4(SOX9):c.858C>A (p.Ile286=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GBenign/Likely benign
Select item 817124	NM_000346.4(SOX9):c.888_889dup (p.Tyr297fs)	SOX9 (Y297fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 381978	NM_000346.4(SOX9):c.948G>A (p.Thr316=)	SOX9	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 450200	NM_000346.4(SOX9):c.965G>A (p.Ser322Asn)	SOX9 (S322N)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GUncertain significance
Select item 489071	NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter)	SOX9 (Q340*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 817692	NM_000346.4(SOX9):c.1031dup (p.Pro345fs)	SOX9 (P345fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 618379	NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser)	SOX9 (P345S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +2 more	GBenign/Likely benign
Select item 1195644	NM_000346.4(SOX9):c.1061_1087del (p.Pro354_Pro362del)	SOX9	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1194502	NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln)	SOX9 (P353Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 958593	NM_000346.4(SOX9):c.1080_1100del (p.Pro362_Gln368del)	SOX9	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 504084	NM_000346.4(SOX9):c.1100dup (p.Gln368fs)	SOX9 (Q368fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 373101	NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter)	SOX9 (R394*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 391344	NM_000346.4(SOX9):c.1193A>G (p.Lys398Arg)	SOX9 (K398R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372514	NM_000346.4(SOX9):c.1262_1278del (p.Ser421fs)	SOX9 (S421fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1312849	NM_000346.4(SOX9):c.1304_1306delinsCCC (p.Ile435_Thr436delinsThrPro)	SOX9	Indel (missense variant)	not provided	GUncertain significance
Select item 669152	NM_000346.4(SOX9):c.1320C>T (p.Tyr440=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GBenign/Likely benign
Select item 21163	NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter)	SOX9 (Y440*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1307369	NM_000346.4(SOX9):c.1330G>A (p.Asp444Asn)	SOX9 (D444N)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GUncertain significance
Select item 423957	NM_000346.4(SOX9):c.1418A>G (p.Gln473Arg)	SOX9 (Q473R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 515442	NM_000346.4(SOX9):c.1482C>T (p.Ser494=)	SOX9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 324920	NM_000346.4(SOX9):c.1503C>T (p.Pro501=)	SOX9	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1290861	NM_000346.4(SOX9):c.*9C>T	SOX9	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1286592	NM_000346.4(SOX9):c.*23A>C	SOX9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1291883	NC_000017.11:g.72126443C>A	SOX9	Single nucleotide variant	not provided	GBenign
Select item 3362078	NM_000346.4(SOX9):c.512A>T (p.Asp171Val)	SOX9 (D171V)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 80