6662[geneid] - 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 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 39777	NC_000017.11:g.(?_70643580)_(71603774_?)del	CASC17, LOC108004545 +10 more	Deletion	Acampomelic campomelic dysplasia with autosomal sex reversal	GPathogenic
Select item 192389	NC_000017.11:g.71412006_71988969delinsTACCTTTTATT	REVSEX, SOX9 +11 more	Indel	46,XY sex reversal 10	GPathogenic
Select item 192390	NC_000017.11:g.(?_71475000)_(71611000_?)del	REVSEX, LOC108004545 +2 more	Deletion	46,XY sex reversal 10	GPathogenic
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 3321668	NM_000346.4(SOX9):c.13G>A (p.Asp5Asn)	LOC108021846, SOX9 (D5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Camptomelic dysplasia +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 +1 more	GConflicting classifications of pathogenicity
Select item 507525	NM_000346.4(SOX9):c.18C>T (p.Pro6=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	not specified +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)	SOX9-related disorder +2 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 161465	NM_000346.4(SOX9):c.61G>A (p.Ala21Thr)	LOC108021846, SOX9 (A21T)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3032236	NM_000346.4(SOX9):c.66del (p.Ser23fs)	LOC108021846, SOX9 (S23fs)	Deletion (frameshift variant)	SOX9-related disorder	GLikely pathogenic
Select item 1702493	NM_000346.4(SOX9):c.68del (p.Ser23fs)	LOC108021846, SOX9 (S23fs)	Deletion (frameshift variant)	Connective tissue disorder	GLikely pathogenic
Select item 700391	NM_000346.4(SOX9):c.76A>G (p.Met26Val)	LOC108021846, SOX9 (M26V)	Single nucleotide variant (missense variant)	SOX9-related disorder +2 more	GBenign/Likely benign
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 1323635	NM_000346.4(SOX9):c.124dup (p.Asp42fs)	LOC108021846, SOX9 (D42fs)	Duplication (frameshift variant)	Camptomelic dysplasia	GPathogenic
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 2630008	NM_000346.4(SOX9):c.164dup (p.Glu57fs)	LOC108021846, SOX9 (E57fs)	Duplication (frameshift variant)	SOX9-related disorder	GPathogenic
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 1217940	NM_000346.4(SOX9):c.181AAG[1] (p.Lys62del)	LOC108021846, SOX9 (K62del)	Microsatellite (inframe_deletion)	not provided	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 2515	NM_000346.4(SOX9):c.197_226del (p.Glu66_Glu75del)	LOC108021846, SOX9	Deletion (inframe_deletion)	Camptomelic dysplasia	GPathogenic
Select item 692026	NM_000346.4(SOX9):c.196G>T (p.Glu66Ter)	LOC108021846, SOX9 (E66*)	Single nucleotide variant (nonsense)	Campomelic dysplasia with autosomal sex reversal	GPathogenic
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 1699037	NM_000346.4(SOX9):c.218T>C (p.Ile73Thr)	LOC108021846, SOX9 (I73T)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GPathogenic
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 2514	NM_000346.4(SOX9):c.227C>A (p.Ala76Glu)	LOC108021846, SOX9 (A76E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
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 1304243	NM_000346.4(SOX9):c.247G>A (p.Gly83Ser)	LOC108021846, SOX9 (G83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985960	NM_000346.4(SOX9):c.247G>C (p.Gly83Arg)	LOC108021846, SOX9 (G83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 546496	NM_000346.4(SOX9):c.272dup (p.Met91fs)	LOC108021846, SOX9 (M91fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 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 specified +2 more	GBenign
Select item 986363	NM_000346.4(SOX9):c.281_310del (p.Arg94_Pro103del)	LOC108021846, SOX9	Deletion (inframe_deletion)	Camptomelic dysplasia	GLikely pathogenic
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 3167830	NM_000346.4(SOX9):c.296G>A (p.Ser99Asn)	LOC108021846, SOX9 (S99N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512	NM_000346.4(SOX9):c.296del (p.Ser99fs)	SOX9, LOC108021846 (S99fs)	Deletion (frameshift variant)	Campomelic dysplasia with autosomal sex reversal	GPathogenic
Select item 2630717	NM_000346.4(SOX9):c.310C>G (p.His104Asp)	LOC108021846, SOX9 (H104D)	Single nucleotide variant (missense variant)	SOX9-related disorder	GUncertain significance
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 282933	NM_000346.4(SOX9):c.316A>G (p.Lys106Glu)	LOC108021846, SOX9 (K106E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176690	NM_000346.4(SOX9):c.319C>T (p.Arg107Trp)	LOC108021846, SOX9 (R107W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1702491	NM_000346.4(SOX9):c.320G>A (p.Arg107Gln)	LOC108021846, SOX9 (R107Q)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
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 1809734	NM_000346.4(SOX9):c.327G>T (p.Met109Ile)	LOC108021846, SOX9 (M109I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 520782	NM_000346.4(SOX9):c.331G>A (p.Ala111Thr)	LOC108021846, SOX9 (A111T)	Single nucleotide variant (missense variant)	SOX9-related disorder +1 more	GPathogenic/Likely pathogenic
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 1224442	NM_000346.4(SOX9):c.343T>C (p.Trp115Arg)	LOC108021846, SOX9 (W115R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 618381	NM_000346.4(SOX9):c.344G>A (p.Trp115Ter)	SOX9, LOC108021846 (W115*)	Single nucleotide variant (nonsense)	not provided	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 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 1342866	NM_000346.4(SOX9):c.358C>G (p.Arg120Gly)	LOC108021846, SOX9 (R120G)	Single nucleotide variant (missense variant)	Bent bone dysplasia	GLikely pathogenic
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 1333394	NM_000346.4(SOX9):c.369dup (p.Ala124fs)	LOC108021846, SOX9 (A124fs)	Duplication (frameshift variant)	Camptomelic dysplasia	GLikely pathogenic
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 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 2921059	NM_000346.4(SOX9):c.376C>T (p.Gln126Ter)	LOC108021846, SOX9 (Q126*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 993710	NM_000346.4(SOX9):c.393_394del (p.His131fs)	LOC108021846, SOX9 (H131fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 1067274	NM_000346.4(SOX9):c.419G>A (p.Gly140Asp)	LOC108021846, SOX9 (G140D)	Single nucleotide variant (missense variant)	Camptomelic dysplasia	GLikely pathogenic
Select item 618378	NM_000346.4(SOX9):c.429G>T (p.Trp143Cys)	SOX9, LOC108021846 (W143C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2720198	NM_000346.4(SOX9):c.431+8C>T	LOC108021846, SOX9	Single nucleotide variant (intron variant)	SOX9-related disorder +1 more	GLikely benign

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