Unique variants in the SOX10 gene

Information The variants shown are described using the NM_006941.3 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
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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 - c.-10_-4del r.(?) p.(=) - likely benign g.38379798_38379804del - SOX10(NM_006941.3):c.-10_-4delCGGGGGC - POLR2F_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+, +?/+? 7 _1_4_ c.-278_*1183{0} r.0 p.0 - likely pathogenic (dominant), pathogenic (dominant) g.(?_38368319)_(38380539_?)del - 56.6 kb deletion of SOX10 upstream regulatory elements, 6 more items - SOX10_000063, SOX10_000064, SOX10_000067, SOX10_000068, SOX10_000069, SOX10_000071, SOX10_000072 whole gene deletion (1.3 to 1.6 Mb), whole gene deletion (213 to 222 kb), 3 more items PubMed: Bondurand 2007, PubMed: Bondurand 2012, PubMed: Siomou 2012 - - De novo - - - - - Veronique Pingault
+?/. 1 2 c.2T>C r.(?) p.(Met1?) - likely pathogenic g.38379790A>G g.37983783A>G - - SOX10_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 2 c.2T>G r.(?) p.0? - pathogenic (dominant) g.38379790A>C g.37983783A>C Met1? - SOX10_000076 A more distal initiation codon is used in vitro but the function of the mutant protein is lost PubMed: Pingault 2013 - - Germline - - - - - Veronique Pingault
?/. 1 2 c.11A>G r.(?) p.(Glu4Gly) - VUS g.38379781T>C g.37983774T>C SOX10(NM_006941.3):c.11A>G (p.(Glu4Gly)) - SOX10_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 2 - c.12_13delinsAT r.(?) p.(Gln5*) ACMG pathogenic (dominant) g.38379779_38379780delinsAT g.37983772_37983773delinsAT - - SOX10_000151 - PMID: 34599368 SCV001821525.1, ClinVar-SCV001821525.1 - Germline, Unknown yes - - - - Karina Lezirovitz Mandelbaum
-/. 2 2 c.18C>T r.(?) p.(Asp6=) - benign g.38379774G>A g.37983767G>A SOX10(NM_006941.3):c.18C>T (p.D6=) - SOX10_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.44_62del r.(?) p.(Val15Alafs*11) ACMG pathogenic (dominant) g.38379738_38379756del g.37983731_37983749del g.38379730_38379748del - SOX10_000150 - PMID: 34599368 ClinVar-SCV001792238 - Unknown ? - - - - Karina Lezirovitz Mandelbaum
+/+ 1 2 c.50_73delinsGCCCGACGCTAGGGCCCTAG r.(?) p.(Ser17Cysfs*7) - pathogenic (dominant) g.38379719_38379742delinsCTAGGGCCCTAGCGTCGGGC g.37983712_37983735delinsCTAGGGCCCTAGCGTCGGGC c.50-73del24insGCCCGACGCTAGGGCCCTAG - SOX10_000001 - PubMed: Pingault 2010 - - Germline - - - - - Veronique Pingault
+/+ 1 2 c.111_220del r.(?) p.(Gly39Argfs*58) - pathogenic (dominant) g.38379572_38379681del g.37983566_37983675del 110_219del110 - SOX10_000044 - PubMed: Chen 2010 - - Germline - - - - - Veronique Pingault
+/+ 1 2 c.112_131del r.(?) p.(Gly38Glnfs*22) - pathogenic (dominant) g.38379661_38379680del g.37983656_37983675del c.112_131del20 (G38Qfs21X) - SOX10_000042 loss of transactivation capabilities PubMed: Sanchez-Meijas 2010 - - De novo - - - - - Veronique Pingault
+/+ 2 2 c.113del r.(?) p.(Gly38Alafs*71) - pathogenic, pathogenic (dominant) g.38379679del g.37983673del c.113delG - SOX10_000045 - MORL Deafness Variation Database, PubMed: Zhang 2012, PubMed: Chen 2010 - - SUMMARY record, Unknown - - - - - Global Variome, with Curator vacancy, Veronique Pingault
?/. 1 2 c.114_116dup r.(?) p.(Gly39dup) - VUS g.38379688_38379690dup g.37983681_37983683dup SOX10(NM_006941.3):c.114_116dupCGG (p.G39dup) - SOX10_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.115G>T r.(?) p.(Gly39*) - pathogenic g.38379677C>A g.37983670C>A - - SOX10_000143 - MORL Deafness Variation Database, PubMed: Arimoto 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 1 - c.119C>A r.(?) p.(Ser40*) - pathogenic g.38379673G>T - - - SOX10_000148 - - - - Unknown - - - - - Gunnar Schmidt
-?/. 1 2 c.122G>T r.(?) p.(Gly41Val) - likely benign g.38379670C>A g.37983663C>A SOX10(NM_006941.3):c.122G>T (p.G41V) - SOX10_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.126_127delinsCT r.(?) p.(Arg43*) - pathogenic (dominant) g.38379665_38379666delinsAG g.37983658_37983659delinsAG R43X ; 126GC>CT - SOX10_000002 - PubMed: Pingault 2002 - - De novo - - - - - Veronique Pingault
+/+ 1 2 c.126_127delinsTT r.(?) p.(Arg43*) - pathogenic (dominant) g.38379665_38379666delinsAA g.37983658_37983659delinsAA c.126_127delGCinsTT - SOX10_000046 - PubMed: Chen 2010 - - Unknown - - - - - Veronique Pingault
+/+, +/. 2 2 c.155del r.(?) p.(Gly52Alafs*57), p.(Gly52AlafsTer57) - pathogenic, pathogenic (dominant) g.38379637del, g.38379639del g.37983632del 153-155del; G52Afs56X, SOX10(NM_006941.3):c.155delG (p.G52Afs*57) - SOX10_000043 inherited from unaffected mother; loss of transactivation capabilities, 1 more item PubMed: Sanchez-Meijas 2010 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Veronique Pingault
+/+ 1 2 c.165del r.(?) p.(Lys56Argfs*53) - pathogenic g.38379627del g.37983620del - - SOX10_000142 - MORL Deafness Variation Database, PubMed: Inoue 2002 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2 c.169del r.(?) p.(Glu57Serfs*52) - pathogenic (dominant) g.38379623del g.37983617del nt168delG - SOX10_000003 - PubMed: Sham 2001 - - De novo - - - - - Veronique Pingault
+/+ 1 2 c.184G>T r.(?) p.(Glu62*) - pathogenic g.38379608C>A g.37983601C>A - - SOX10_000141 - MORL Deafness Variation Database, PubMed: Vaaralahti 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 2_2i c.219_428+43del r.spl p.? - pathogenic (dominant) g.38379321_38379573del g.37983316_37983568del - - SOX10_000065 - PubMed: Bondurand 2007 - - Germline - - - - - Veronique Pingault
-?/. 1 2 c.231C>T r.(?) p.(Ser77=) - likely benign g.38379561G>A g.37983554G>A SOX10(NM_006941.3):c.231C>T (p.S77=) - SOX10_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.246C>G r.(?) p.(Gly82=) - likely benign g.38379546G>C g.37983539G>C SOX10(NM_006941.3):c.246C>G (p.G82=) - SOX10_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 2 c.249C>A r.(?) p.(Tyr83*) - pathogenic, pathogenic (dominant) g.38379543G>T g.37983536G>T Y83X (C>A at 249) - SOX10_000004 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Pingault 1998 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 1 2 c.249C>G r.(?) p.(Tyr83*) - pathogenic g.38379543G>C g.37983536G>C - - SOX10_000140 - MORL Deafness Variation Database, PubMed: Pingault 1998 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 1 2 c.249C>T r.(?) p.(Tyr83=) - benign g.38379543G>A g.37983536G>A SOX10(NM_006941.3):c.249C>T (p.Y83=) - SOX10_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 2 2 c.254G>A r.(?) p.(Trp85*) - pathogenic, pathogenic (dominant) g.38379538C>T g.37983531C>T - - SOX10_000047 inherited from unaffected mother; a mosaicism is suspected. MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Jiang 2011 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 1 2 c.259_260del r.(?) p.(Leu87Glyfs*46) - pathogenic g.38379532_38379533del g.37983525_37983526del - - SOX10_000139 - MORL Deafness Variation Database, PubMed: Chen 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/+? 1 2 c.271_275del r.(?) p.(Pro91Alafs*41) - likely pathogenic g.38379517_38379521del g.37983510_37983514del - - SOX10_000138 - MORL Deafness Variation Database, PubMed: Tang 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-? 1 2 c.274G>C r.(?) p.(Val92Leu) - likely benign g.38379518C>G g.37983511C>G - - SOX10_000005 1 more item PubMed: Bondurand 2007 - - Germline - - - - - Veronique Pingault
?/. 1 2 c.315G>C r.(?) p.(Lys105Asn) - VUS g.38379477C>G g.37983470C>G SOX10(NM_006941.3):c.315G>C (p.K105N) - SOX10_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 2 c.316C>T r.(?) p.(Arg106Trp) - likely pathogenic (dominant) g.38379476G>A g.37983469G>A - - SOX10_000050 major functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - - - Veronique Pingault
+?/+? 1 2 c.323T>C r.(?) p.(Met108Thr) - likely pathogenic (dominant) g.38379469A>G g.37983462A>G - - SOX10_000082 Loss of function in vitro PubMed: Pingault 2013 - - Germline - - - - - Veronique Pingault
?/. 1 - c.327C>G r.(?) p.(Asn109Lys) - VUS g.38379465G>C - SOX10(NM_006941.3):c.327C>G (p.N109K) - POLR2F_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.328_329del r.(?) p.(Ala110Leufs*23) - pathogenic (dominant) g.38379463_38379464del g.37983457_37983458del 327delCG - SOX10_000006 - PubMed: Pingault 2002 - - Germline - - - - - Veronique Pingault
+?/+? 1 2 c.331T>G r.(?) p.(Phe111Val) - likely pathogenic (dominant) g.38379461A>C g.37983454A>C - - SOX10_000077 Loss of function in vitro PubMed: Pingault 2013 - - De novo - - - - - Veronique Pingault
+?/. 1 2 c.333C>A r.(?) p.(Phe111Leu) - likely pathogenic g.38379459G>T - SOX10(NM_006941.3):c.333C>A (p.F111L) - SOX10_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 2 2 c.336G>A r.(?) p.(Met112Ile) - likely pathogenic (dominant) g.38379456C>T g.37983449C>T - - SOX10_000051 mild functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - - - Veronique Pingault
+?/+? 1 2 c.336G>C r.(?) p.(Met112Ile) - likely pathogenic (dominant) g.38379456C>G g.37983449C>G - - SOX10_000052 mild functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - - - Veronique Pingault
+/. 1 2 c.346C>G r.(?) p.(Gln116Glu) - pathogenic g.38379446G>C g.37983439G>C - - SOX10_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 2 c.347A>T r.(?) p.(Gln116Leu) - likely pathogenic g.38379445T>A - - - SOX10_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 2 c.364C>G r.(?) p.(Leu122Val) - likely pathogenic g.38379428G>C g.37983421G>C - - SOX10_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 2 c.391A>C r.(?) p.(Asn131His) - likely pathogenic (dominant) g.38379401T>G g.37983394T>G - - SOX10_000053 mild functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - - - Veronique Pingault
+?/+? 1 2 c.398A>G r.(?) p.(Glu133Gly) - likely pathogenic (dominant) g.38379394T>C g.37983387T>C - - SOX10_000074 - PubMed: Elmaleh-Berges 2013 - - De novo - - - - - Veronique Pingault
+/+ 1 2 c.403A>G r.(?) p.(Ser135Gly) - pathogenic g.38379389T>C g.37983382T>C - - SOX10_000137 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/., +?/+? 3 2 c.404G>C r.(?) p.(Ser135Thr) - likely pathogenic (dominant), pathogenic g.38379388C>G g.37983381C>G S135T, SOX10(NM_006941.3):c.404G>C (p.S135T) - SOX10_000007 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Hennekam 1996, PubMed: Bondurand 1999 - - CLASSIFICATION record, SUMMARY record, Unknown - - - - - Global Variome, with Curator vacancy, VKGL-NL_Groningen, Veronique Pingault
+?/+? 1 2 c.424T>C r.(?) p.(Trp142Arg) - likely pathogenic (dominant) g.38379368A>G g.37983361A>G - - SOX10_000078 Loss of function in vitro PubMed: Pingault 2013 - - Unknown - - - - - Veronique Pingault
+/. 1 2 c.425G>A r.(?) p.(Trp142Ter) - pathogenic g.38379367C>T g.37983360C>T - - SOX10_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 2i c.428+2T>G r.spl, r.spl? p.? - pathogenic, pathogenic (dominant) g.38379362A>C g.37983355A>C 428+2T-G - SOX10_000008 - Touraine 1998 Am J Hum Genet 63:A174, 1 more item - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 1 2i_3i c.429-1112_697+396del r.? p.? - pathogenic (dominant) g.38373478_38375254del g.37977477_37979253del - - SOX10_000066 - PubMed: Bondurand 2007 - - Germline - - - - - Veronique Pingault
+/. 1 2i c.429-1G>A r.spl p.? - pathogenic g.38374143C>T g.37978136C>T - - SOX10_000145 - - - - De novo ? - - - - Seungmin Lee
+?/+? 1 3 c.434T>C r.(?) p.(Leu145Pro) - likely pathogenic (dominant) g.38374137A>G g.37978130A>G - - SOX10_000054 major functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - - - Veronique Pingault
+?/. 1 - c.448A>G r.(?) p.(Lys150Glu) ACMG pathogenic (dominant) g.38374123T>C - - - SOX10_000152 - - - - De novo yes - - - - Karina Lezirovitz Mandelbaum
+?/+? 1 3 c.450G>C r.(?) p.(Lys150Asn) - likely pathogenic (dominant) g.38374121C>G g.37978114C>G - - SOX10_000055 1 more item PubMed: Chaoui 2011 - - De novo - - - - - Veronique Pingault
+?/+?, ?/. 2 3 c.451C>T r.(?) p.(Arg151Cys) - likely pathogenic (dominant), VUS g.38374120G>A g.37978113G>A SOX10(NM_006941.3):c.451C>T (p.R151C) - SOX10_000083 Loss of function in vitro, VKGL data sharing initiative Nederland PubMed: Pingault 2013 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_AMC, Veronique Pingault
?/. 1 3 c.452G>A r.(?) p.(Arg151His) - VUS g.38374119C>T g.37978112C>T - - SOX10_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 3 c.470C>T r.(?) p.(Ala157Val) - likely pathogenic (dominant) g.38374101G>A g.37978094G>A - - SOX10_000009 - PubMed: Morin 2008 - - De novo - - - - - Veronique Pingault
+/. 1 3 c.472G>T r.(?) p.(Glu158Ter) - pathogenic g.38374099C>A - - - SOX10_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.475C>T r.(?) p.(Arg159Trp) - VUS g.38374096G>A - - - SOX10_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 3 c.477_482dup r.(?) p.(Leu160_Arg161dup) - pathogenic (dominant) g.38374089_38374094dup g.37978084_37978089dup 482ins6 (GCTCCG) - SOX10_000010 - PubMed: Pingault 1998 - - De novo - - - - - Veronique Pingault
+/+ 1 3 c.481C>T r.(?) p.(Arg161Cys) - pathogenic g.38374090G>A g.37978083G>A - - SOX10_000136 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/., +?/+?, +?/., ?/. 4 3 c.482G>A r.(?) p.(Arg161His) - likely pathogenic, likely pathogenic (dominant), pathogenic, VUS g.38374089C>T g.37978082C>T - - SOX10_000056 major functional effect in vitro, VKGL data sharing initiative Nederland PubMed: Chaoui 2011, PubMed: Roman 2020, Journal: Roman 2020, 1 more item - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Mieke Wesdorp, VKGL-NL_Nijmegen, Veronique Pingault
+/+ 1 3 c.483_484insGCTCCT r.(?) p.(Arg161_Met162insAlaPro) - pathogenic g.38374088_38374089insGGAGCA g.37978081_37978082insGGAGCA - - SOX10_000135 - MORL Deafness Variation Database, PubMed: Pingault 1998 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 3 c.506del r.(?) p.(Pro169Argfs*117) - pathogenic (dominant) g.38374065del g.37978060del 506delC, p.Pro169fsX284 - SOX10_000011 - PubMed: Iso 2008 - - Germline - - - - - Veronique Pingault
+/+ 2 3 c.519C>G r.(?) p.(Tyr173*) - pathogenic, pathogenic (dominant) g.38374052G>C g.37978045G>C - - SOX10_000012 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Pingault 2010 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+, +?/+? 2 3 c.521A>C r.(?) p.(Gln174Pro) - likely pathogenic (dominant), pathogenic g.38374050T>G g.37978043T>G Q174P - SOX10_000013 - MORL Deafness Variation Database, PubMed: Chaoui 2011, PubMed: Barnett 2009 - - Germline, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+?/+? 1 3 c.523C>G r.(?) p.(Pro175Ala) - likely pathogenic (dominant) g.38374048G>C g.37978041G>C - - SOX10_000057 major functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - - - Veronique Pingault
+?/+? 1 3 c.524C>G r.(?) p.(Pro175Arg) - likely pathogenic (dominant) g.38374047G>C g.37978040G>C - - SOX10_000058 major functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - - - Veronique Pingault
+?/+? 1 3 c.524C>T r.(?) p.(Pro175Leu) - likely pathogenic (dominant) g.38374047G>A g.37978040G>A - - SOX10_000059 major functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - - - Veronique Pingault
+/+ 2 3 c.565G>T r.(?) p.(Glu189*) - pathogenic, pathogenic (dominant) g.38374006C>A g.37977999C>A E189X (G>T at 565) - SOX10_000014 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Pingault 1998 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/. 1 - c.610C>T r.(?) p.(Gln204*) - pathogenic g.38373961G>A - SOX10(NM_006941.3):c.610C>T (p.Q204*) - POLR2F_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 3 c.621C>A r.(?) p.(Tyr207*) - pathogenic g.38373950G>T g.37977943G>T - - SOX10_000134 - MORL Deafness Variation Database, PubMed: Chen 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 2 3 c.621C>G r.(?) p.(Tyr207*) - pathogenic, pathogenic (dominant) g.38373950G>C g.37977943G>C Y207X - SOX10_000015 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Southard-Smith 1999 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 1 3 c.644_648del r.(?) p.(Arg215Profs*64) - pathogenic (dominant) g.38373923_38373927del g.37977917_37977921del c.644_648delGGCAC - SOX10_000016 - PubMed: Pingault 2010 - - De novo - - - - - Veronique Pingault
+/+ 1 3 c.671C>G r.(?) p.(Ser224*) - pathogenic (dominant) g.38373900G>C g.37977893G>C Stop at codon 224 - SOX10_000070 - PubMed: Parthev 2012 - - Unknown - - - - - Veronique Pingault
-?/. 1 - c.684C>T r.(?) p.(Pro228=) - likely benign g.38373887G>A - SOX10(NM_006941.3):c.684C>T (p.P228=) - POLR2F_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 3i_4 c.698-740_1085delinsCCT r.? p.? - pathogenic (dominant) g.38369818_38370945delinsAGG g.37973811_37974938delinsAGG 697-740_1085delinsCCT - SOX10_000062 - PubMed: Bondurand 2007 - - De novo - - - - - Veronique Pingault
-?/. 1 3i c.698-19_698-18dup r.(=) p.(=) - likely benign g.38370233_38370234dup g.37974226_37974227dup SOX10(NM_006941.3):c.698-19_698-18dupCT - SOX10_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 2 3i c.698-2A>C r.spl, r.spl? p.? - pathogenic, pathogenic (dominant) g.38370207T>G g.37974200T>G - - SOX10_000017 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Sznajer 2008 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 2 3i c.698-2A>T r.spl, r.spl? p.? - pathogenic, pathogenic (dominant) g.38370207T>A g.37974200T>A - - SOX10_000048 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Jiang 2011 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 1 3i c.698-1G>C r.spl p.? - pathogenic (dominant) g.38370206C>G g.37974199C>G - - SOX10_000079 - PubMed: Pingault 2013 - - Germline - - - - - Veronique Pingault
?/. 1 4 c.698G>C r.(?) p.(Gly233Ala) - VUS g.38370205C>G g.37974198C>G - - SOX10_000147 - 0 - - Germline - - - - - LOVD
+?/. 1 - c.(697+1_698-1)_(*1_?)del r.? p.? ACMG VUS g.(?_38369501)_(38370206_38373873)del g.(?_37973494)_(37974199_37977866)del 698-?_1401+?del - SOX10_000149 - - - - Germline/De novo (untested) - - - - - Jinu Han
+/+ 2 4 c.700C>T r.(?) p.(Gln234*) - pathogenic, pathogenic (dominant) g.38370203G>A g.37974196G>A Q234X - SOX10_000018 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Pingault 2002 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
?/. 1 4 c.718A>C r.(?) p.(Thr240Pro) - VUS g.38370185T>G g.37974178T>G SOX10(NM_006941.3):c.718A>C (p.(Thr240Pro)) - SOX10_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 4 c.723T>A r.(?) p.(Pro241=) - likely benign g.38370180A>T g.37974173A>T SOX10(NM_006941.3):c.723T>A (p.P241=) - SOX10_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 4 c.730A>C r.(?) p.(Thr244Pro) - likely benign g.38370173T>G g.37974166T>G SOX10(NM_006941.3):c.730A>C (p.(Thr244Pro)) - SOX10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 4 c.735G>A r.(?) p.(Pro245=) - likely benign g.38370168C>T g.37974161C>T SOX10(NM_006941.3):c.735G>A (p.P245=) - SOX10_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.743_744del r.(?) p.(Glu248Alafs*32) - pathogenic (dominant) g.38370159_38370160del g.37974154_37974155del c.743_744delAG (E248fsX30) - SOX10_000061 - PubMed: Zhang 2012 - - Germline - - - - - Veronique Pingault
+/+, +/. 3 4 c.748C>T r.(?) p.(Gln250*), p.(Gln250Ter) - pathogenic, pathogenic (dominant) g.38370155G>A g.37974148G>A Q250X, SOX10(NM_006941.3):c.748C>T (p.Q250*) - SOX10_000019 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Inoue 2002 - - CLASSIFICATION record, SUMMARY record, Unknown - - - - - Global Variome, with Curator vacancy, VKGL-NL_AMC, Veronique Pingault
+/+ 2 4 c.752C>A r.(?) p.(Ser251*) - pathogenic, pathogenic (dominant) g.38370151G>T g.37974144G>T S251X - SOX10_000020 - MORL Deafness Variation Database, PubMed: Xiong 2015, PubMed: Touraine 2000 - - De novo, SUMMARY record - - - - - Global Variome, with Curator vacancy, Veronique Pingault
+/+ 1 4 c.780del r.(?) p.(Arg261Alafs*25) - pathogenic (dominant) g.38370123del g.37974118del 778delG - SOX10_000021 - PubMed: Pingault 2002 - - De novo - - - - - Veronique Pingault
?/. 1 4 c.781C>A r.(?) p.(Arg261Ser) - VUS g.38370122G>T g.37974115G>T - - SOX10_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 4 c.797del r.(?) p.(Gly266Alafs*20) - pathogenic (dominant) g.38370106del g.37974101del 795delG - SOX10_000022 - PubMed: Pingault 2000 - - De novo - - - - - Veronique Pingault
+/+ 1 4 c.811del r.(?) p.(Ile271Serfs*15) - pathogenic (dominant) g.38370092del g.37974085del c.811delA - SOX10_000023 - PubMed: Pingault 2010 - - Unknown - - - - - Veronique Pingault
-?/. 1 4 c.819C>T r.(?) p.(Phe273=) - likely benign g.38370084G>A g.37974077G>A SOX10(NM_006941.3):c.819C>T (p.F273=) - SOX10_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 4 c.822C>T r.(?) p.(Gly274=) - likely benign g.38370081G>A g.37974074G>A SOX10(NM_006941.3):c.822C>T (p.G274=) - SOX10_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.825C>T r.(?) p.(Asn275=) - likely benign g.38370078G>A - SOX10(NM_006941.3):c.825C>T (p.N275=) - POLR2F_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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