"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SOX9"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2010712	NM_000346.4(SOX9):c.15C>G (p.Asp5Glu)	LOC108021846, SOX9 (D5E)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
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 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 536131	NM_000346.4(SOX9):c.42G>A (p.Gln14=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
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 2862825	NM_000346.4(SOX9):c.53T>C (p.Leu18Pro)	LOC108021846, SOX9 (L18P)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1597579	NM_000346.4(SOX9):c.55T>A (p.Ser19Thr)	LOC108021846, SOX9 (S19T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely benign
Select item 1995097	NM_000346.4(SOX9):c.56C>T (p.Ser19Phe)	LOC108021846, SOX9 (S19F)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1034865	NM_000346.4(SOX9):c.59G>C (p.Gly20Ala)	LOC108021846, SOX9 (G20A)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 700391	NM_000346.4(SOX9):c.76A>G (p.Met26Val)	LOC108021846, SOX9 (M26V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2137312	NM_000346.4(SOX9):c.77T>A (p.Met26Lys)	LOC108021846, SOX9 (M26K)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2150757	NM_000346.4(SOX9):c.80C>A (p.Ser27Tyr)	LOC108021846, SOX9 (S27Y)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely benign
Select item 2164664	NM_000346.4(SOX9):c.108G>T (p.Pro36=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 1546374	NM_000346.4(SOX9):c.111G>T (p.Ser37=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 1930032	NM_000346.4(SOX9):c.138G>A (p.Thr46=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 3002995	NM_000346.4(SOX9):c.140G>A (p.Arg47Gln)	LOC108021846, SOX9 (R47Q)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2040297	NM_000346.4(SOX9):c.141G>A (p.Arg47=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2883219	NM_000346.4(SOX9):c.144C>G (p.Pro48=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 1579210	NM_000346.4(SOX9):c.156G>C (p.Thr52=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 1353212	NM_000346.4(SOX9):c.173C>G (p.Pro58Arg)	LOC108021846, SOX9 (P58R)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1361293	NM_000346.4(SOX9):c.187G>C (p.Glu63Gln)	LOC108021846, SOX9 (E63Q)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1378882	NM_000346.4(SOX9):c.200A>G (p.Asp67Gly)	LOC108021846, SOX9 (D67G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GBenign
Select item 1721991	NM_000346.4(SOX9):c.241C>G (p.Leu81Val)	LOC108021846, SOX9 (L81V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 468239	NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter)	LOC108021846, SOX9 (Y84*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GPathogenic
Select item 2717839	NM_000346.4(SOX9):c.253G>C (p.Asp85His)	LOC108021846, SOX9 (D85H)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1458092	NM_000346.4(SOX9):c.255_256del (p.Asp85fs)	LOC108021846, SOX9 (D85fs)	Deletion (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 2748873	NM_000346.4(SOX9):c.268C>T (p.Pro90Ser)	LOC108021846, SOX9 (P90S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2154931	NM_000346.4(SOX9):c.273G>T (p.Met91Ile)	LOC108021846, SOX9 (M91I)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GUncertain significance
Select item 1463023	NM_000346.4(SOX9):c.276G>A (p.Pro92=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 1627295	NM_000346.4(SOX9):c.287A>G (p.Asn96Ser)	LOC108021846, SOX9 (N96S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely benign
Select item 1422924	NM_000346.4(SOX9):c.313G>T (p.Val105Phe)	LOC108021846, SOX9 (V105F)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
Select item 2041795	NM_000346.4(SOX9):c.334_335del (p.Phe112fs)	LOC108021846, SOX9 (F112fs)	Deletion (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 2124144	NM_000346.4(SOX9):c.336C>T (p.Phe112=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 1992803	NM_000346.4(SOX9):c.337A>T (p.Met113Leu)	LOC108021846, SOX9 (M113L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely pathogenic
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 1514843	NM_000346.4(SOX9):c.339G>A (p.Met113Ile)	LOC108021846, SOX9 (M113I)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 1370574	NM_000346.4(SOX9):c.340G>C (p.Val114Leu)	LOC108021846, SOX9 (V114L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2841952	NM_000346.4(SOX9):c.341T>C (p.Val114Ala)	LOC108021846, SOX9 (V114A)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2694225	NM_000346.4(SOX9):c.346G>A (p.Ala116Thr)	LOC108021846, SOX9 (A116T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1497400	NM_000346.4(SOX9):c.347C>T (p.Ala116Val)	LOC108021846, SOX9 (A116V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 468240	NM_000346.4(SOX9):c.349C>T (p.Gln117Ter)	LOC108021846, SOX9 (Q117*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GPathogenic
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 1224338	NM_000346.4(SOX9):c.359G>T (p.Arg120Leu)	LOC108021846, SOX9 (R120L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2146990	NM_000346.4(SOX9):c.372G>C (p.Ala124=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
Select item 2768491	NM_000346.4(SOX9):c.375C>G (p.Asp125Glu)	LOC108021846, SOX9 (D125E)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 1067274	NM_000346.4(SOX9):c.419G>A (p.Gly140Asp)	LOC108021846, SOX9 (G140D)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 2720198	NM_000346.4(SOX9):c.431+8C>T	LOC108021846, SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2720858	NM_000346.4(SOX9):c.431+9C>G	LOC108021846, SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2071929	NM_000346.4(SOX9):c.431+9C>T	LOC108021846, SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2891911	NM_000346.4(SOX9):c.431+12C>T	LOC108021846, SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2749475	NM_000346.4(SOX9):c.431+17del	LOC108021846, SOX9	Deletion (intron variant)	Camptomelic dysplasia	GBenign
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 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 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 1422421	NM_000346.4(SOX9):c.447C>T (p.Ser149=)	SOX9	Single nucleotide variant (synonymous 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 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 387272	NM_000346.4(SOX9):c.480G>A (p.Arg160=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +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 1383539	NM_000346.4(SOX9):c.502G>T (p.Asp168Tyr)	SOX9 (D168Y)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
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)	not provided +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 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)	Campomelic dysplasia with autosomal sex reversal +3 more	GPathogenic/Likely pathogenic
Select item 2047766	NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe)	SOX9 (Y172F)	Single nucleotide variant (missense variant)	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 2917478	NM_000346.4(SOX9):c.522C>T (p.Tyr174=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 287629	NM_000346.4(SOX9):c.531G>A (p.Arg177=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GConflicting classifications of pathogenicity
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 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 697138	NM_000346.4(SOX9):c.582G>A (p.Glu194=)	SOX9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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