ClinVar for MedGen (Select 354620) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363156	NM_000346.4(SOX9):c.1320_1321insCACCA (p.Asp441fs)	SOX9 (D441fs)	Insertion (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 3336003	NM_000346.4(SOX9):c.1498C>T (p.Gln500Ter)	SOX9 (Q500*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GPathogenic
Select item 3243057	NC_000017.10:g.(?_68171181)_(70120528_?)del	KCNJ2, SOX9	Deletion	Camptomelic dysplasia	GPathogenic
Select item 3020683	NM_000346.4(SOX9):c.672C>T (p.Pro224=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 3014050	NM_000346.4(SOX9):c.1435C>T (p.Pro479Ser)	SOX9 (P479S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GBenign
Select item 3011899	NM_000346.4(SOX9):c.788G>T (p.Gly263Val)	SOX9 (G263V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 3011154	NM_000346.4(SOX9):c.1437dup (p.Ile480fs)	SOX9 (I480fs)	Duplication (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 3008477	NM_000346.4(SOX9):c.1227GCA[5] (p.Gln412_His413insGln)	SOX9	Microsatellite (inframe_insertion)	Camptomelic dysplasia	GUncertain significance
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 2982789	NM_000346.4(SOX9):c.432-6del	SOX9	Deletion (intron variant)	Camptomelic dysplasia	GUncertain significance
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 2966158	NM_000346.4(SOX9):c.649G>A (p.Gly217Ser)	SOX9 (G217S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2959400	NM_000346.4(SOX9):c.740C>T (p.Pro247Leu)	SOX9 (P247L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	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 2917159	NM_000346.4(SOX9):c.555G>A (p.Gly185=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2911514	NM_000346.4(SOX9):c.1394C>G (p.Thr465Ser)	SOX9 (T465S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2906707	NM_000346.4(SOX9):c.1110_1130del (p.364AAPPQQP[1])	SOX9	Deletion (inframe_deletion)	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 2900774	NM_000346.4(SOX9):c.441C>T (p.Asn147=)	SOX9	Single nucleotide variant (synonymous 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 2889838	NM_000346.4(SOX9):c.1143G>A (p.Thr381=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2887381	NM_000346.4(SOX9):c.528G>A (p.Pro176=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2887288	NM_000346.4(SOX9):c.1112C>T (p.Ala371Val)	SOX9 (A371V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2885207	NM_000346.4(SOX9):c.755T>C (p.Leu252Pro)	SOX9 (L252P)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
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 2881239	NM_000346.4(SOX9):c.676G>A (p.Glu226Lys)	SOX9 (E226K)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2879111	NM_000346.4(SOX9):c.816C>T (p.Asp272=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 2862825	NM_000346.4(SOX9):c.53T>C (p.Leu18Pro)	LOC108021846, SOX9 (L18P)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2862731	NM_000346.4(SOX9):c.1062G>A (p.Pro354=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2861438	NM_000346.4(SOX9):c.902A>G (p.Asn301Ser)	SOX9 (N301S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2853538	NM_000346.4(SOX9):c.947C>T (p.Thr316Met)	SOX9 (T316M)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2845983	NM_000346.4(SOX9):c.1525C>T (p.Pro509Ser)	SOX9 (P509S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2842731	NM_000346.4(SOX9):c.685+4dup	SOX9	Duplication (intron 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 2837925	NM_000346.4(SOX9):c.507_508delinsTA (p.Pro170Thr)	SOX9 (P170T)	Indel (missense variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 2833709	NM_000346.4(SOX9):c.944dup (p.Tyr315Ter)	SOX9 (Y315*)	Duplication (nonsense)	Camptomelic dysplasia	GPathogenic
Select item 2811357	NM_000346.4(SOX9):c.875A>C (p.Asn292Thr)	SOX9 (N292T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GBenign
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 2791467	NM_000346.4(SOX9):c.434T>A (p.Leu145His)	SOX9 (L145H)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2787365	NM_000346.4(SOX9):c.432-7C>G	SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2781525	NM_000346.4(SOX9):c.1068G>A (p.Pro356=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2779526	NM_000346.4(SOX9):c.1242G>A (p.Ser414=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 2766079	NM_000346.4(SOX9):c.971C>T (p.Thr324Ile)	SOX9 (T324I)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2765457	NM_000346.4(SOX9):c.897G>C (p.Pro299=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2761331	NM_000346.4(SOX9):c.1060C>T (p.Pro354Ser)	SOX9 (P354S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2749475	NM_000346.4(SOX9):c.431+17del	LOC108021846, SOX9	Deletion (intron variant)	Camptomelic dysplasia	GBenign
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 2736641	NM_000346.4(SOX9):c.685+1G>A	SOX9	Single nucleotide variant (splice donor variant)	Camptomelic dysplasia	GPathogenic
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 2728688	NM_000346.4(SOX9):c.686-16C>T	SOX9	Single nucleotide variant (intron 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 2720858	NM_000346.4(SOX9):c.431+9C>G	LOC108021846, SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2720198	NM_000346.4(SOX9):c.431+8C>T	LOC108021846, SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
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 2717156	NM_000346.4(SOX9):c.1196C>T (p.Thr399Met)	SOX9 (T399M)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2710217	NM_000346.4(SOX9):c.685+7_685+8delinsTA	SOX9	Indel (intron 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 2702605	NM_000346.4(SOX9):c.1255del (p.Ala419fs)	SOX9 (A419fs)	Deletion (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 2699620	NM_000346.4(SOX9):c.760C>T (p.Arg254Ter)	SOX9 (R254*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GPathogenic
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 2690060	NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)	SOX9 (R152G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2648170	NM_000346.4(SOX9):c.975G>A (p.Ala325=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GLikely benign
Select item 2582587	NM_000346.4(SOX9):c.326T>C (p.Met109Thr)	LOC108021846, SOX9 (M109T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
Select item 2503434	NM_000346.4(SOX9):c.557_560del (p.Gln186fs)	SOX9 (Q186fs)	Deletion (frameshift variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 2436266	NM_000346.4(SOX9):c.904G>A (p.Gly302Ser)	SOX9 (G302S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2433674	NM_000346.4(SOX9):c.829G>T (p.Glu277Ter)	SOX9 (E277*)	Single nucleotide variant (nonsense)	Camptomelic dysplasia	GLikely pathogenic
Select item 2420598	NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)	SOX9 (G225S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GBenign
Select item 2274809	NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys)	SOX9 (Q361K)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 2222804	NM_000346.4(SOX9):c.1061_1069dup (p.Pro356_Gln357insProAlaPro)	SOX9	Duplication (inframe_insertion)	Camptomelic dysplasia +1 more	GUncertain significance
Select item 2202485	NM_000346.4(SOX9):c.1381G>A (p.Gly461Ser)	SOX9 (G461S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2199414	NM_000346.4(SOX9):c.432-10C>T	SOX9	Single nucleotide variant (intron variant)	Camptomelic dysplasia	GLikely benign
Select item 2191693	NM_000346.4(SOX9):c.1146G>T (p.Leu382=)	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 2185970	NM_000346.4(SOX9):c.1401C>A (p.Thr467=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
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 2182788	NM_000346.4(SOX9):c.914G>C (p.Gly305Ala)	SOX9 (G305A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2178023	NM_000346.4(SOX9):c.782A>C (p.Glu261Ala)	SOX9 (E261A)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2173738	NM_000346.4(SOX9):c.1067C>T (p.Pro356Leu)	SOX9 (P356L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
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 2156196	NM_000346.4(SOX9):c.1419G>A (p.Gln473=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
Select item 2154931	NM_000346.4(SOX9):c.273G>T (p.Met91Ile)	LOC108021846, SOX9 (M91I)	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 2149164	NM_000346.4(SOX9):c.440A>C (p.Asn147Thr)	SOX9 (N147T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2148943	NM_000346.4(SOX9):c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)	SOX9	Duplication (inframe_insertion)	Camptomelic dysplasia	GUncertain significance
Select item 2146990	NM_000346.4(SOX9):c.372G>C (p.Ala124=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
Select item 2142736	NM_000346.4(SOX9):c.903C>T (p.Asn301=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2141694	NM_000346.4(SOX9):c.1053G>A (p.Gln351=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GLikely benign
Select item 2140302	NM_000346.4(SOX9):c.958G>A (p.Gly320Ser)	SOX9 (G320S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GLikely benign
Select item 2138932	NM_000346.4(SOX9):c.920C>T (p.Pro307Leu)	SOX9 (P307L)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
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 2138102	NM_000346.4(SOX9):c.432-2A>C	SOX9	Single nucleotide variant (splice acceptor variant)	Camptomelic dysplasia	GPathogenic
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 2137136	NM_000346.4(SOX9):c.504C>T (p.Asp168=)	SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia	GBenign
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 2118932	NM_000346.4(SOX9):c.1285A>G (p.Ser429Gly)	SOX9 (S429G)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance
Select item 2106821	NM_000346.4(SOX9):c.685+2T>C	SOX9	Single nucleotide variant (splice donor variant)	Camptomelic dysplasia	GPathogenic
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 2094142	NM_000346.4(SOX9):c.989G>C (p.Ser330Thr)	SOX9 (S330T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GUncertain significance

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