Unique variants in the SOX9 gene

Information The variants shown are described using the NM_000346.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 _1 c.-787000_-600000dup r.? p.? - pathogenic g.(69320000_69330000)_(69527000_69517000)dup - reported on hg18 46,XX SOX9_000002 178 kb duplication PubMed: Cox 2011, Journal: Cox 2011, OMIM:var00014 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.76A>G r.(?) p.(Met26Val) - likely benign g.70117608A>G g.72121467A>G SOX9(NM_000346.3):c.76A>G (p.(Met26Val)) - SOX9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.283G>C r.(?) p.(Val95Leu) - likely benign g.70117815G>C g.72121674G>C SOX9(NM_000346.3):c.283G>C (p.(Val95Leu)) - SOX9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.333del r.(?) p.(Phe112SerfsTer35) - pathogenic g.70117865del g.72121724del SOX9(NM_000346.3):c.333delC (p.F112Sfs*35) - SOX9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.336C>A r.(?) p.(Phe112Leu) - pathogenic g.70117868C>A g.72121727C>A SOX9(NM_000346.3):c.336C>A (p.F112L) - SOX9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.356C>A r.(?) p.(Ala119Glu) - likely pathogenic g.70117888C>A g.72121747C>A SOX9(NM_000346.3):c.356C>A (p.(Ala119Glu)) - SOX9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.429G>T r.(?) p.(Trp143Cys) - pathogenic g.70117961G>T g.72121820G>T SOX9(NM_000346.3):c.429G>T (p.W143C) - SOX9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1i c.432-2A>T r.spl p.? - likely pathogenic g.72122717A>T g.74126578A>T - - SOX9_000001 not in 100 chromosomes tested, de novo in patient - - - De novo - - - - - Karina Silveira
+?/. 1 - c.453G>C r.(?) p.(Lys151Asn) - likely pathogenic g.70118881G>C - SOX9(NM_000346.4):c.453G>C (p.K151N) - SOX9_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.460T>C r.(?) p.(Phe154Leu) - pathogenic g.70118888T>C g.72122747T>C - - SOX9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.475_485del r.(?) p.(Glu159Argfs*89) - pathogenic g.70118903_70118913del g.72122762_72122772del - - SOX9_000016 - - - - Unknown - - - - - IMGAG
?/. 1 - c.476A>G r.(?) p.(Glu159Gly) - VUS g.70118904A>G - SOX9(NM_000346.3):c.476A>G (p.E159G) - SOX9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 3 - c.507C>T r.(?) p.(His169=) - benign g.70118935C>T g.72122794C>T SOX9(NM_000346.3):c.507C>T (p.H169=), SOX9(NM_000346.4):c.507C>T (p.H169=) - SOX9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+?/. 1 - c.508C>G r.(?) p.(Pro170Ala) - likely pathogenic g.70118936C>G - - - SOX9_000045 - - - - Unknown - - - - - IMGAG
+/. 1 - c.523C>T r.(?) p.(Gln175Ter) - pathogenic g.70118951C>T g.72122810C>T - - SOX9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.527C>T r.(?) p.(Pro176Leu) - pathogenic g.70118955C>T g.72122814C>T - - SOX9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.685+5G>A r.spl? p.? - VUS g.70119118G>A - SOX9(NM_000346.3):c.685+5G>A - SOX9_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.685+7C>T r.(=) p.(=) - likely benign g.70119120C>T g.72122979C>T SOX9(NM_000346.3):c.685+7C>T (p.(=)) - SOX9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.685+8G>A r.(=) p.(=) - benign, likely benign g.70119121G>A g.72122980G>A SOX9(NM_000346.3):c.685+8G>A (, p.(=)), SOX9(NM_000346.4):c.685+8G>A - SOX9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ?/. 2 - c.706A>C r.(?) p.(Thr236Pro) - likely benign, VUS g.70119704A>C g.72123563A>C SOX9(NM_000346.3):c.706A>C (p.T236P, p.(Thr236Pro)) - SOX9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 2 - c.710dup r.(?) p.(Pro238ThrfsTer14) - benign, likely benign g.70119708dup g.72123567dup SOX9(NM_000346.3):c.710dup (p.(Pro238Thrfs*14)), SOX9(NM_000346.3):c.710dupC (p.P238Tfs*14) - SOX9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 2 - c.711A>C r.(?) p.(Pro237=) - benign g.70119709A>C g.72123568A>C SOX9(NM_000346.3):c.711A>C (p.P237=), SOX9(NM_000346.4):c.711A>C (p.P237=) - SOX9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 2 - c.715A>C r.(?) p.(Thr239Pro) - benign, likely benign g.70119713A>C g.72123572A>C SOX9(NM_000346.3):c.715A>C (p.T239P, p.(Thr239Pro)) - SOX9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.717C>T r.(?) p.(Thr239=) - benign g.70119715C>T g.72123574C>T SOX9(NM_000346.3):c.717C>T (p.T239=) - SOX9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.718A>C r.(?) p.(Thr240Pro) - benign, likely benign g.70119716A>C g.72123575A>C SOX9(NM_000346.3):c.718A>C (p.T240P, p.(Thr240Pro)) - SOX9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.724A>C r.(?) p.(Lys242Gln) - likely benign g.70119722A>C g.72123581A>C SOX9(NM_000346.3):c.724A>C (p.(Lys242Gln)) - SOX9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.737del r.(?) p.(Gln246ArgfsTer7) - pathogenic g.70119735del g.72123594del - - SOX9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.784G>C r.(?) p.(Gly262Arg) - VUS g.70119782G>C g.72123641G>C - 46,XY SOX9_000017 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.816_817insTCCGTGAC r.(?) p.(Val273Serfs*9) ACMG likely pathogenic (dominant) g.70119814_70119815insTCCGTGAC - - - SOX9_000050 ACMG: PVS1_STR, PS2_MOD, PM2_SUP PMID: 26432670 - - De novo yes - - - - Andreas Laner
?/. 1 - c.844G>T r.(?) p.(Val282Phe) - VUS g.70119842G>T g.72123701G>T SOX9(NM_000346.3):c.844G>T (p.(Val282Phe)) - SOX9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.958_962dup r.(?) p.(Ile321MetfsTer64) - likely pathogenic g.70119956_70119960dup g.72123815_72123819dup SOX9(NM_000346.3):c.957_958insGGCAT (p.(Ile321MetfsTer64)) - SOX9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.974C>T r.(?) p.(Ala325Val) - VUS g.70119972C>T - SOX9(NM_000346.4):c.974C>T (p.A325V) - SOX9_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.993G>A r.(?) p.(Ala331=) - likely benign g.70119991G>A g.72123850G>A SOX9(NM_000346.3):c.993G>A (p.A331=) - SOX9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.994G>A r.(?) p.(Gly332Ser) - likely benign g.70119992G>A - SOX9(NM_000346.3):c.994G>A (p.(Gly332Ser)) - SOX9_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1042C>T r.(?) p.(Gln348*) - pathogenic g.70120040C>T - - - SOX9_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1045C>T r.(?) p.(Pro349Ser) - VUS g.70120043C>T g.72123902C>T - 46,XY SOX9_000018 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.1113G>A r.(?) p.(Ala371=) - benign g.70120111G>A g.72123970G>A SOX9(NM_000346.3):c.1113G>A (p.A371=), SOX9(NM_000346.4):c.1113G>A (p.A371=) - SOX9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.1123C>T r.(?) p.(Gln375Ter) - pathogenic g.70120121C>T g.72123980C>T SOX9(NM_000346.3):c.1123C>T (p.Q375*) - SOX9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1167G>A r.(?) p.(Pro389=) - benign g.70120165G>A g.72124024G>A SOX9(NM_000346.3):c.1167G>A (p.P389=) - SOX9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1180C>T r.(?) p.(Arg394Ter) - pathogenic g.70120178C>T g.72124037C>T SOX9(NM_000346.3):c.1180C>T (p.R394*) - SOX9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1296C>A r.(?) p.(Tyr432*) - pathogenic g.70120294C>A g.72124153C>A - 46,XY SOX9_000019 - PubMed: Eggers 2016 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1315C>T r.(?) p.(Gln439Ter) - likely pathogenic g.70120313C>T g.72124172C>T - - SOX9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1320C>T r.(?) p.(Tyr440=) - likely benign g.70120318C>T g.72124177C>T SOX9(NM_000346.3):c.1320C>T (p.Y440=) - SOX9_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1321G>A r.(?) p.(Asp441Asn) - likely benign g.70120319G>A g.72124178G>A SOX9(NM_000346.3):c.1321G>A (p.(Asp441Asn)) - SOX9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1421G>T r.(?) p.(Arg474Leu) - VUS g.70120419G>T g.72124278G>T - - SOX9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1428del r.(?) p.(Met476IlefsTer47) - likely pathogenic g.70120426del - SOX9(NM_000346.3):c.1428del (p.(Met476Ilefs*47)) - SOX9_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1438A>C r.(?) p.(Ile480Leu) - VUS g.70120436A>C g.72124295A>C - 46,XY SOX9_000020 - PubMed: Eggers 2016 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.*23A>C r.(=) p.(=) - benign g.70120551A>C g.72124410A>C SOX9(NM_000346.3):c.*23A>C - SOX9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query