SOX9[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1178322	t(11;17)(p15.4;q24.3)	SOX9	Translocation	Camptomelic dysplasia	GPathogenic
Select item 1596408	NM_000346.4(SOX9):c.432-20C>A	SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2199414	NM_000346.4(SOX9):c.432-10C>T	SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2787365	NM_000346.4(SOX9):c.432-7C>G	SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2982789	NM_000346.4(SOX9):c.432-6del	SOX9	Deletion (intron variant)	Camptomelic dysplasia	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 2138102	NM_000346.4(SOX9):c.432-2A>C	SOX9	Single nucleotide variant (splice acceptor variant)	Camptomelic dysplasia	GPathogenic
Select item 948349	NM_000346.4(SOX9):c.432-2A>T	SOX9	Single nucleotide variant (splice acceptor variant)	Camptomelic dysplasia	GPathogenic
Select item 2008010	NC_000017.11:g.72122720_72122736del	SOX9	Deletion	Camptomelic dysplasia	GPathogenic
Select item 2791467	NM_000346.4(SOX9):c.434T>A (p.Leu145His)	SOX9 (L145H)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 988464	NM_000346.4(SOX9):c.436_437dup (p.Leu146_Asn147insTer)	SOX9	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1502752	NM_000346.4(SOX9):c.436C>G (p.Leu146Val)	SOX9 (L146V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2149164	NM_000346.4(SOX9):c.440A>C (p.Asn147Thr)	SOX9 (N147T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2900774	NM_000346.4(SOX9):c.441C>T (p.Asn147=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2794715	NM_000346.4(SOX9):c.442G>C (p.Glu148Gln)	SOX9 (E148Q)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 279897	NM_000346.4(SOX9):c.442G>T (p.Glu148Ter)	SOX9 (E148*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1224467	NM_000346.4(SOX9):c.445_453del (p.Ser149_Lys151del)	SOX9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1422421	NM_000346.4(SOX9):c.447C>T (p.Ser149=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GUncertain significance
Select item 2690060	NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)	SOX9 (R152G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1123797	NM_000346.4(SOX9):c.454C>A (p.Arg152=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 2516	NM_000346.4(SOX9):c.462C>G (p.Phe154Leu)	SOX9 (F154L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
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 986831	NM_000346.4(SOX9):c.475_485del (p.Glu159fs)	SOX9 (E159fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2517	NM_000346.4(SOX9):c.472G>A (p.Ala158Thr)	SOX9 (A158T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
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 1601188	NM_000346.4(SOX9):c.477G>A (p.Glu159=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
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 2101578	NM_000346.4(SOX9):c.484C>T (p.Arg162Cys)	SOX9 (R162C)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1983769	NM_000346.4(SOX9):c.486C>G (p.Arg162=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 617626	NM_000346.4(SOX9):c.491A>C (p.Gln164Pro)	SOX9 (Q164P)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
Select item 2513	NM_000346.4(SOX9):c.493C>T (p.His165Tyr)	SOX9 (H165Y)	Single nucleotide variant (missense variant)	Acampomelic campomelic dysplasia	GPathogenic
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 985989	NM_000346.4(SOX9):c.494A>G (p.His165Arg)	SOX9 (H165R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1383539	NM_000346.4(SOX9):c.502G>T (p.Asp168Tyr)	SOX9 (D168Y)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
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 2137136	NM_000346.4(SOX9):c.504C>T (p.Asp168=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
Select item 2837925	NM_000346.4(SOX9):c.507_508delinsTA (p.Pro170Thr)	SOX9 (P170T)	Indel (missense variant)	Camptomelic dysplasia	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)	Connective tissue disorder +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 996802	NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)	SOX9 (P170A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 559879	NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)	SOX9 (P170S)	Single nucleotide variant (missense variant)	See cases +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 2047766	NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe)	SOX9 (Y172F)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
Select item 488603	NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys)	SOX9 (Y172C)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 1699296	NM_000346.4(SOX9):c.517A>T (p.Lys173Ter)	SOX9 (K173*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GPathogenic
Select item 2511	NM_000346.4(SOX9):c.517A>G (p.Lys173Glu)	SOX9 (K173E)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
Select item 195066	NM_000346.4(SOX9):c.519G>A (p.Lys173=)	SOX9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 522033	NM_000346.4(SOX9):c.521A>C (p.Tyr174Ser)	SOX9 (Y174S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2917478	NM_000346.4(SOX9):c.522C>T (p.Tyr174=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 1224435	NM_000346.4(SOX9):c.526C>A (p.Pro176Thr)	SOX9 (P176T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1454687	NM_000346.4(SOX9):c.527C>T (p.Pro176Leu)	SOX9 (P176L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
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 2887381	NM_000346.4(SOX9):c.528G>A (p.Pro176=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2727497	NM_000346.4(SOX9):c.528G>T (p.Pro176=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 3346047	NM_000346.4(SOX9):c.530G>C (p.Arg177Pro)	SOX9 (R177P)	Single nucleotide variant (missense variant)	SOX9-related disorder	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 1470080	NM_000346.4(SOX9):c.537G>A (p.Arg179=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 789342	NM_000346.4(SOX9):c.540G>A (p.Lys180=)	SOX9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 265652	NM_000346.4(SOX9):c.555del (p.Gln186fs)	SOX9 (Q186fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2503434	NM_000346.4(SOX9):c.557_560del (p.Gln186fs)	SOX9 (Q186fs)	Deletion (frameshift variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 2917159	NM_000346.4(SOX9):c.555G>A (p.Gly185=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 425144	NM_000346.4(SOX9):c.559G>C (p.Ala187Pro)	SOX9 (A187P)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GUncertain significance
Select item 2648169	NM_000346.4(SOX9):c.567A>C (p.Ala189=)	SOX9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629478	NM_000346.4(SOX9):c.581A>G (p.Glu194Gly)	SOX9 (E194G)	Single nucleotide variant (missense variant)	SOX9-related disorder	GUncertain significance
Select item 697138	NM_000346.4(SOX9):c.582G>A (p.Glu194=)	SOX9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506	NM_000346.4(SOX9):c.583C>T (p.Gln195Ter)	SOX9 (Q195*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GPathogenic
Select item 1567694	NM_000346.4(SOX9):c.591C>T (p.His197=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2969434	NM_000346.4(SOX9):c.592A>G (p.Ile198Val)	SOX9 (I198V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1974628	NM_000346.4(SOX9):c.592A>T (p.Ile198Phe)	SOX9 (I198F)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely benign
Select item 1452379	NM_000346.4(SOX9):c.600dup (p.Asn201fs)	SOX9 (N201fs)	Duplication (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 1003041	NM_000346.4(SOX9):c.596C>T (p.Ser199Phe)	SOX9 (S199F)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2443269	NM_000346.4(SOX9):c.602A>G (p.Asn201Ser)	SOX9 (N201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1483764	NM_000346.4(SOX9):c.605C>G (p.Ala202Gly)	SOX9 (A202G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2733914	NM_000346.4(SOX9):c.607A>T (p.Ile203Phe)	SOX9 (I203F)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2708081	NM_000346.4(SOX9):c.610T>G (p.Phe204Val)	SOX9 (F204V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 546497	NM_000346.4(SOX9):c.628del (p.Asp210fs)	SOX9 (D210fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1717758	NM_000346.4(SOX9):c.629A>G (p.Asp210Gly)	SOX9 (D210G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2869450	NM_000346.4(SOX9):c.632C>T (p.Ser211Leu)	SOX9 (S211L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2903015	NM_000346.4(SOX9):c.633G>A (p.Ser211=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2190464	NM_000346.4(SOX9):c.640TCC[2] (p.Ser216del)	SOX9 (S216del)	Microsatellite (inframe_deletion)	Camptomelic dysplasia	GUncertain significance
Select item 2966158	NM_000346.4(SOX9):c.649G>A (p.Gly217Ser)	SOX9 (G217S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 3167831	NM_000346.4(SOX9):c.652A>G (p.Met218Val)	SOX9 (M218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 536130	NM_000346.4(SOX9):c.654G>A (p.Met218Ile)	SOX9 (M218I)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1623663	NM_000346.4(SOX9):c.657C>T (p.Ser219=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
Select item 1993794	NM_000346.4(SOX9):c.658G>A (p.Glu220Lys)	SOX9 (E220K)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1224313	NM_000346.4(SOX9):c.665_672dup (p.Gly225fs)	SOX9 (G225fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 701015	NM_000346.4(SOX9):c.669C>A (p.Ser223=)	SOX9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020683	NM_000346.4(SOX9):c.672C>T (p.Pro224=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2420598	NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)	SOX9 (G225S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GBenign

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