Full data view for gene SOX10

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

183 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-10_-4del r.(?) p.(=) Unknown - likely benign g.38379798_38379804del - SOX10(NM_006941.3):c.-10_-4delCGGGGGC - POLR2F_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_4_ c.-278_*1183{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_38368319)_(38380539_?)del - NT_011520.11:g.(17,738,296_17,740,110)_(17,794,727_17_801_789)del - SOX10_000063 whole gene deletion (56 to 68 kb) PubMed: Bondurand 2007 - - De novo - - - 0 - DNA PCRq, FISH lymphocytes - ? - PubMed: Bondurand 2007 - M - - - - 0 - - 1 Veronique Pingault
+/+ _1_4_ c.-278_*1183{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_38368319)_(38380539_?)del - NT_011520.11:g.(17,712,505_17,716,229)_(17,929,647_17_933_832)del - SOX10_000064 whole gene deletion (213 to 222 kb) PubMed: Bondurand 2007 - - De novo - - - 0 - DNA PCRq, FISH lymphocytes - ? - PubMed: Bondurand 2007 - M - - - - 0 - - 1 Veronique Pingault
+/+ _1_4_ c.-278_*1183{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_38368319)_(38380539_?)del - NT_011520.11:g.(16,173,196_16,489,188)_(17,790,847_17_791_697)del - SOX10_000067 whole gene deletion (1.3 to 1.6 Mb) PubMed: Bondurand 2007 - - De novo - - - 0 - DNA PCRq - - WS - PubMed: Bondurand 2007 - M - - - - 0 - - 1 Veronique Pingault
+/+ _1_4_ c.-278_*1183{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_38368319)_(38380539_?)del - NT_011520.11:g.(17,357,039_17,432,022)_(18,006,412_18_254_748)del - SOX10_000068 whole gene deletion (574 to 898 kb) PubMed: Bondurand 2007 - - De novo - - - 0 - DNA PCRq - - ? - PubMed: Bondurand 2007 - M - - - - 0 - - 1 Veronique Pingault
+/+ _1_4_ c.-278_*1183{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_38368319)_(38380539_?)del - NT_011520.11:g.(Z83846_Z69042)_(18,938,054_19_010_379)del - SOX10_000069 whole gene deletion (5.5 to 6.1 Mb) PubMed: Bondurand 2007 - - De novo - - - 0 - DNA PCRq, FISH lymphocytes - ? - PubMed: Bondurand 2007 - F - - - - 0 - - 1 Veronique Pingault
+?/+? _1_4_ c.-278_*1183{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_38368319)_(38380539_?)del - 56.6 kb deletion of SOX10 upstream regulatory elements - SOX10_000071 - PubMed: Bondurand 2012 - - De novo - - - 0 - DNA PCRq, arrayCGH, PCRlr - - WS - PubMed: Bondurand 2012 - M - Congo - - 0 - - 1 Veronique Pingault
+/+ _1_4_ c.-278_*1183{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_38368319)_(38380539_?)del - 725kb deletion (chr22:38,202,740_38,927,438 NCBI37 built) - SOX10_000072 - PubMed: Siomou 2012 - - De novo - - - 0 - DNA arrayCGH - - ? - PubMed: Siomou 2012 - M - - - - 0 - - 1 Veronique Pingault
+?/. 2 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.38379790A>G g.37983783A>G - - SOX10_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.2T>G r.(?) p.0? Maternal (inferred) - 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 - - - 0 - DNA SEQ - - ? - PubMed: Pingault 2013 - M - - - - 0 - - 1 Veronique Pingault
?/. 2 c.11A>G r.(?) p.(Glu4Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.12_13delinsAT r.(?) p.(Gln5*) Maternal (confirmed) ACMG pathogenic (dominant) g.38379779_38379780delinsAT g.37983772_37983773delinsAT - - SOX10_000151 - PMID: 34599368 SCV001821525.1 - Germline yes - - 0 - DNA SEQ - - WS2E - - - M no Brazil - - - - - 2 Karina Lezirovitz Mandelbaum
+?/. - c.12_13delinsAT r.(?) p.(Gln5*) Unknown ACMG pathogenic (dominant) g.38379779_38379780delinsAT g.37983772_37983773delinsAT [12G>A;13C>T] - SOX10_000151 - - - - Unknown yes - - 0 - DNA SEQ - - WS2E - - - F no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
-/. 2 c.18C>T r.(?) p.(Asp6=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.18C>T r.(?) p.(Asp6=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.44_62del r.(?) p.(Val15Alafs*11) Unknown ACMG pathogenic (dominant) g.38379738_38379756del g.37983731_37983749del g.38379730_38379748del - SOX10_000150 - - - - Unknown ? - - 0 - DNA SEQ - - WS4C W7 - - M no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
+/+ 2 c.50_73delinsGCCCGACGCTAGGGCCCTAG r.(?) p.(Ser17Cysfs*7) Unknown - pathogenic (dominant) g.38379719_38379742delinsCTAGGGCCCTAGCGTCGGGC g.37983712_37983735delinsCTAGGGCCCTAGCGTCGGGC c.50-73del24insGCCCGACGCTAGGGCCCTAG - SOX10_000001 - PubMed: Pingault 2010 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Pingault 2010 - M - - - - 0 - - 1 Veronique Pingault
+/+ 2 c.111_220del r.(?) p.(Gly39Argfs*58) Unknown - pathogenic (dominant) g.38379572_38379681del g.37983566_37983675del 110_219del110 - SOX10_000044 - PubMed: Chen 2010 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Chen 2010 - - - China - - 0 - - 1 Veronique Pingault
+/+ 2 c.112_131del r.(?) p.(Gly38Glnfs*22) Unknown - pathogenic (dominant) g.38379661_38379680del g.37983656_37983675del c.112_131del20 (G38Qfs21X) - SOX10_000042 loss of transactivation capabilities PubMed: Sanchez-Meijas 2010 - - De novo - - - 0 - DNA DHPLC, SEQ - - WS - PubMed: Sanchez-Meijas 2010 - F - - - - 0 - - 1 Veronique Pingault
+/+ 2 c.113del r.(?) p.(Gly38Alafs*71) Parent #1 - pathogenic g.38379679del g.37983673del - - SOX10_000045 - MORL Deafness Variation Database, PubMed: Zhang 2012 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Chen 2010, PubMed: Zhang 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 2 c.113del r.(?) p.(Gly38Alafs*71) Unknown - pathogenic (dominant) g.38379679del g.37983673del c.113delG - SOX10_000045 - PubMed: Chen 2010 - - Unknown - - - 0 - DNA SEQ - - WS - PubMed: Chen 2010 - - - China - - 0 - - 1 Veronique Pingault
?/. 2 c.114_116dup r.(?) p.(Gly39dup) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.115G>T r.(?) p.(Gly39*) Parent #1 - pathogenic g.38379677C>A g.37983670C>A - - SOX10_000143 - MORL Deafness Variation Database, PubMed: Arimoto 2014 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Arimoto 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.119C>A r.(?) p.(Ser40*) Unknown - pathogenic g.38379673G>T - - - SOX10_000148 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 Gunnar Schmidt
-?/. 2 c.122G>T r.(?) p.(Gly41Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.126_127delinsCT r.(?) p.(Arg43*) Unknown - pathogenic (dominant) g.38379665_38379666delinsAG g.37983658_37983659delinsAG R43X ; 126GC>CT - SOX10_000002 - PubMed: Pingault 2002 - - De novo - - - 0 - DNA SEQ - - WS - PubMed: Pingault 2002 - M - - - - 0 - - 1 Veronique Pingault
+/+ 2 c.126_127delinsTT r.(?) p.(Arg43*) Unknown - pathogenic (dominant) g.38379665_38379666delinsAA g.37983658_37983659delinsAA c.126_127delGCinsTT - SOX10_000046 - PubMed: Chen 2010 - - Unknown - - - 0 - DNA SEQ - - WS - PubMed: Chen 2010 - - - China - - 0 - - 1 Veronique Pingault
+/. 2 c.155del r.(?) p.(Gly52AlafsTer57) Unknown - pathogenic g.38379639del g.37983632del SOX10(NM_006941.3):c.155delG (p.G52Afs*57) - SOX10_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.155del r.(?) p.(Gly52Alafs*57) Maternal (confirmed) - pathogenic (dominant) g.38379637del g.37983632del 153-155del; G52Afs56X - SOX10_000043 inherited from unaffected mother; loss of transactivation capabilities PubMed: Sanchez-Meijas 2010 - - Germline - - - 0 - DNA DHPLC, SEQ - - HSCR - PubMed: Sanchez-Meijas 2010 - M - - - - 0 - - 1 Veronique Pingault
+/+ 2 c.165del r.(?) p.(Lys56Argfs*53) Parent #1 - pathogenic g.38379627del g.37983620del - - SOX10_000142 - MORL Deafness Variation Database, PubMed: Inoue 2002 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Inoue 2002 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 2 c.169del r.(?) p.(Glu57Serfs*52) Unknown - pathogenic (dominant) g.38379623del g.37983617del nt168delG - SOX10_000003 - PubMed: Sham 2001 - - De novo - - - 0 - DNA SEQ - - WS - PubMed: Sham 2001 - F - China - - 0 - - 1 Veronique Pingault
+/+ 2 c.184G>T r.(?) p.(Glu62*) Parent #1 - pathogenic g.38379608C>A g.37983601C>A - - SOX10_000141 - MORL Deafness Variation Database, PubMed: Vaaralahti 2014 - - SUMMARY record - - - 0 - DNA ? - - KS - PubMed: Vaaralahti 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 2_2i c.219_428+43del r.spl p.? Maternal (inferred) - pathogenic (dominant) g.38379321_38379573del g.37983316_37983568del - - SOX10_000065 - PubMed: Bondurand 2007 - - Germline - - - 0 - DNA PCRq, PCRlr - - WS - PubMed: Bondurand 2007 - M - - - - 0 - - 1 Veronique Pingault
-?/. 2 c.231C>T r.(?) p.(Ser77=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2 c.246C>G r.(?) p.(Gly82=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.249C>A r.(?) p.(Tyr83*) Parent #1 - pathogenic g.38379543G>T g.37983536G>T - - SOX10_000004 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Pingault 1998, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 2 c.249C>A r.(?) p.(Tyr83*) Unknown - pathogenic (dominant) g.38379543G>T g.37983536G>T Y83X (C>A at 249) - SOX10_000004 - PubMed: Pingault 1998 - - De novo - - - 0 - DNA SSCA, SEQ - - WS - PubMed: Pingault 1998 - M - - - - 0 - - 1 Veronique Pingault
+/+ 2 c.249C>G r.(?) p.(Tyr83*) Parent #1 - pathogenic g.38379543G>C g.37983536G>C - - SOX10_000140 - MORL Deafness Variation Database, PubMed: Pingault 1998 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Pingault 1998 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. 2 c.249C>T r.(?) p.(Tyr83=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.254G>A r.(?) p.(Trp85*) Parent #1 - pathogenic g.38379538C>T g.37983531C>T - - SOX10_000047 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Jiang 2011, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 2 c.254G>A r.(?) p.(Trp85*) Maternal (confirmed) - pathogenic (dominant) g.38379538C>T g.37983531C>T - - SOX10_000047 inherited from unaffected mother; a mosaicism is suspected. PubMed: Jiang 2011 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Jiang 2011 a sister has WS2 - - China - - 0 - - 1 Veronique Pingault
+/+ 2 c.259_260del r.(?) p.(Leu87Glyfs*46) Parent #1 - pathogenic g.38379532_38379533del g.37983525_37983526del - - SOX10_000139 - MORL Deafness Variation Database, PubMed: Chen 2014 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Chen 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.271_275del r.(?) p.(Pro91Alafs*41) Parent #1 - likely pathogenic g.38379517_38379521del g.37983510_37983514del - - SOX10_000138 - MORL Deafness Variation Database, PubMed: Tang 2015 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Tang 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/-? 2 c.274G>C r.(?) p.(Val92Leu) Paternal (confirmed) - likely benign g.38379518C>G g.37983511C>G - - SOX10_000005 no functional effect in vitro; the patient also carries a full SOX10 gene deletion that is responsible for the disease PubMed: Bondurand 2007 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Bondurand 2007 - M - - - - 0 - - 1 Veronique Pingault
?/. 2 c.315G>C r.(?) p.(Lys105Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.316C>T r.(?) p.(Arg106Trp) Unknown - likely pathogenic (dominant) g.38379476G>A g.37983469G>A - - SOX10_000050 major functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - 0 - DNA DHPLC, SEQ - - WS - PubMed: Chaoui 2011 - F - - - - 0 - - 1 Veronique Pingault
+?/+? 2 c.323T>C r.(?) p.(Met108Thr) Unknown - likely pathogenic (dominant) g.38379469A>G g.37983462A>G - - SOX10_000082 Loss of function in vitro PubMed: Pingault 2013 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Pingault 2013 - M - - - - 0 - - 1 Veronique Pingault
?/. - c.327C>G r.(?) p.(Asn109Lys) Unknown - VUS g.38379465G>C - SOX10(NM_006941.3):c.327C>G (p.N109K) - POLR2F_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.328_329del r.(?) p.(Ala110Leufs*23) Maternal (confirmed) - pathogenic (dominant) g.38379463_38379464del g.37983457_37983458del 327delCG - SOX10_000006 - PubMed: Pingault 2002 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Pingault 2002 - M - - - - 0 - - 1 Veronique Pingault
+?/+? 2 c.331T>G r.(?) p.(Phe111Val) Unknown - likely pathogenic (dominant) g.38379461A>C g.37983454A>C - - SOX10_000077 Loss of function in vitro PubMed: Pingault 2013 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Pingault 2013 - F - - - - 0 - - 1 Veronique Pingault
+?/. 2 c.333C>A r.(?) p.(Phe111Leu) Unknown - likely pathogenic g.38379459G>T - SOX10(NM_006941.3):c.333C>A (p.F111L) - SOX10_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.336G>A r.(?) p.(Met112Ile) Unknown - likely pathogenic (dominant) g.38379456C>T g.37983449C>T - - SOX10_000051 mild functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Chaoui 2011 - M - - - - 0 - - 1 Veronique Pingault
+?/+? 2 c.336G>A r.(?) p.(Met112Ile) Unknown - likely pathogenic (dominant) g.38379456C>T g.37983449C>T - - SOX10_000051 mild functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Chaoui 2011 - M - - - - 0 - - 1 Veronique Pingault
+?/+? 2 c.336G>C r.(?) p.(Met112Ile) Maternal (confirmed) - likely pathogenic (dominant) g.38379456C>G g.37983449C>G - - SOX10_000052 mild functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Chaoui 2011 - F - - - - 0 - - 1 Veronique Pingault
+/. 2 c.346C>G r.(?) p.(Gln116Glu) Unknown - pathogenic g.38379446G>C g.37983439G>C - - SOX10_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.347A>T r.(?) p.(Gln116Leu) Unknown - likely pathogenic g.38379445T>A - - - SOX10_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.364C>G r.(?) p.(Leu122Val) Unknown - likely pathogenic g.38379428G>C g.37983421G>C - - SOX10_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.391A>C r.(?) p.(Asn131His) Unknown - likely pathogenic (dominant) g.38379401T>G g.37983394T>G - - SOX10_000053 mild functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Elmaleh-Berges 2013, PubMed: Chaoui 2011 - M - Algeria - - 0 - - 1 Veronique Pingault
+?/+? 2 c.398A>G r.(?) p.(Glu133Gly) Unknown - likely pathogenic (dominant) g.38379394T>C g.37983387T>C - - SOX10_000074 - PubMed: Elmaleh-Berges 2013 - - De novo - - - 0 - DNA SEQ - - WS - PubMed: Elmaleh-Berges 2013 - M - France;Portugal - - 0 - - 1 Veronique Pingault
+/+ 2 c.403A>G r.(?) p.(Ser135Gly) Parent #1 - pathogenic g.38379389T>C g.37983382T>C - - SOX10_000137 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - 0 - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.404G>C r.(?) p.(Ser135Thr) Unknown - pathogenic g.38379388C>G g.37983381C>G SOX10(NM_006941.3):c.404G>C (p.S135T) - SOX10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.404G>C r.(?) p.(Ser135Thr) Parent #1 - pathogenic g.38379388C>G g.37983381C>G - - SOX10_000007 - MORL Deafness Variation Database, PubMed: Hennekam 1996 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Bondurand 1999, PubMed: Hennekam 1996 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.404G>C r.(?) p.(Ser135Thr) Unknown - likely pathogenic (dominant) g.38379388C>G g.37983381C>G S135T - SOX10_000007 - PubMed: Bondurand 1999 - - Unknown - - - 0 - DNA SSCA, SEQ - - ? - PubMed: Hennekam 1996, PubMed: Bondurand 1999 - F - - - - 0 - - 1 Veronique Pingault
+?/+? 2 c.424T>C r.(?) p.(Trp142Arg) Unknown - likely pathogenic (dominant) g.38379368A>G g.37983361A>G - - SOX10_000078 Loss of function in vitro PubMed: Pingault 2013 - - Unknown - - - 0 - DNA SEQ - - ? - PubMed: Pingault 2013 - F - - - - 0 - - 1 Veronique Pingault
+/. 2 c.425G>A r.(?) p.(Trp142Ter) Unknown - pathogenic g.38379367C>T g.37983360C>T - - SOX10_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2i c.428+2T>G r.spl? p.? Parent #1 - pathogenic g.38379362A>C g.37983355A>C - - SOX10_000008 - MORL Deafness Variation Database, PubMed: Pingault 2010, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Pingault 2010, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 2i c.428+2T>G r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.38379362A>C g.37983355A>C 428+2T-G - SOX10_000008 - Touraine 1998 Am J Hum Genet 63:A174 - - Germline - - - 0 - DNA ? - - WS - Touraine 1998 Am J Hum Genet 63:A174 - - - - - - 0 - - 1 Veronique Pingault
+/+ 2i_3i c.429-1112_697+396del r.? p.? Maternal (inferred) - pathogenic (dominant) g.38373478_38375254del g.37977477_37979253del - - SOX10_000066 - PubMed: Bondurand 2007 - - Germline - - - 0 - DNA PCRq, PCRlr - - WS - PubMed: Bondurand 2007 - M - - - - 0 - - 1 Veronique Pingault
+/. 2i c.429-1G>A r.spl p.? Unknown - pathogenic g.38374143C>T g.37978136C>T - - SOX10_000145 - - - - De novo ? - - 0 - DNA SEQ-NG-I whole blood WES deafness SH289-664 - - M ? Korea, South (Republic) Asian 12y 0 - - 1 Seungmin Lee
+?/+? 3 c.434T>C r.(?) p.(Leu145Pro) Unknown - likely pathogenic (dominant) g.38374137A>G g.37978130A>G - - SOX10_000054 major functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - 0 - DNA DHPLC, SEQ - - WS - PubMed: Chaoui 2011 - M - - - - 0 - - 1 Veronique Pingault
+?/. - c.448A>G r.(?) p.(Lys150Glu) Unknown ACMG pathogenic (dominant) g.38374123T>C - - - SOX10_000152 - - - - De novo yes - - - - DNA SEQ - - WS4C - - - M no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
+?/+? 3 c.450G>C r.(?) p.(Lys150Asn) Unknown - likely pathogenic (dominant) g.38374121C>G g.37978114C>G - - SOX10_000055 major functional effect in vitro. Patients also carries the p.Gly321Arg variation with no functional effect in vitro. It is unknown whether they are on the same or different alleles. PubMed: Chaoui 2011 - - De novo - - - 0 - DNA DHPLC, SEQ - - ? - PubMed: Chaoui 2011 - M - - - - 0 - - 1 Veronique Pingault
?/. 3 c.451C>T r.(?) p.(Arg151Cys) Unknown - VUS g.38374120G>A g.37978113G>A SOX10(NM_006941.3):c.451C>T (p.R151C) - SOX10_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.451C>T r.(?) p.(Arg151Cys) Unknown - likely pathogenic (dominant) g.38374120G>A g.37978113G>A - - SOX10_000083 Loss of function in vitro PubMed: Pingault 2013 - - Unknown - - - 0 - DNA SEQ - - ? - PubMed: Pingault 2013 - F - - - - 0 - - 1 Veronique Pingault
?/. 3 c.452G>A r.(?) p.(Arg151His) Unknown - VUS g.38374119C>T g.37978112C>T - - SOX10_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.470C>T r.(?) p.(Ala157Val) Unknown - likely pathogenic (dominant) g.38374101G>A g.37978094G>A - - SOX10_000009 - PubMed: Morin 2008 - - De novo - - - 0 - DNA SEQ - - WS - PubMed: Morin 2008 - M - - - - 0 - - 1 Veronique Pingault
+/. 3 c.472G>T r.(?) p.(Glu158Ter) Unknown - pathogenic g.38374099C>A - - - SOX10_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.475C>T r.(?) p.(Arg159Trp) Unknown - VUS g.38374096G>A - - - SOX10_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.477_482dup r.(?) p.(Leu160_Arg161dup) Unknown - pathogenic (dominant) g.38374089_38374094dup g.37978084_37978089dup 482ins6 (GCTCCG) - SOX10_000010 - PubMed: Pingault 1998 - - De novo - - - 0 - DNA SSCA, SEQ - - WS - PubMed: Pingault 1998 - F - - - - 0 - - 1 Veronique Pingault
+/+ 3 c.481C>T r.(?) p.(Arg161Cys) Parent #1 - pathogenic g.38374090G>A g.37978083G>A - - SOX10_000136 - MORL Deafness Variation Database, PubMed: Marcos 2014 - - SUMMARY record - - - 0 - DNA ? - - KS - PubMed: Marcos 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. 3 c.482G>A r.(?) p.(Arg161His) Parent #1 - likely pathogenic g.38374089C>T g.37978082C>T - - SOX10_000056 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. 3 c.482G>A r.(?) p.(Arg161His) Unknown - pathogenic g.38374089C>T g.37978082C>T - - SOX10_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.482G>A r.(?) p.(Arg161His) Parent #1 - VUS g.38374089C>T - - - SOX10_000056 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES HL HL027 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
+?/+? 3 c.482G>A r.(?) p.(Arg161His) Unknown - likely pathogenic (dominant) g.38374089C>T g.37978082C>T - - SOX10_000056 major functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Chaoui 2011 - M - - - - 0 - - 1 Veronique Pingault
+/+ 3 c.483_484insGCTCCT r.(?) p.(Arg161_Met162insAlaPro) Parent #1 - pathogenic g.38374088_38374089insGGAGCA g.37978081_37978082insGGAGCA - - SOX10_000135 - MORL Deafness Variation Database, PubMed: Pingault 1998 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Pingault 1998 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 3 c.506del r.(?) p.(Pro169Argfs*117) Unknown - pathogenic (dominant) g.38374065del g.37978060del 506delC, p.Pro169fsX284 - SOX10_000011 - PubMed: Iso 2008 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Iso 2008 - F - Japan - - 0 - - 1 Veronique Pingault
+/+ 3 c.519C>G r.(?) p.(Tyr173*) Parent #1 - pathogenic g.38374052G>C g.37978045G>C - - SOX10_000012 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Pingault 2010, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 3 c.519C>G r.(?) p.(Tyr173*) Maternal (confirmed) - pathogenic (dominant) g.38374052G>C g.37978045G>C - - SOX10_000012 - PubMed: Pingault 2010 - - Germline - - - 0 - DNA SEQ - - WS - PubMed: Elmaleh-Berges 2013, PubMed: Pingault 2010 - M - Belgium - - 0 - - 1 Veronique Pingault
+/+ 3 c.521A>C r.(?) p.(Gln174Pro) Parent #1 - pathogenic g.38374050T>G g.37978043T>G - - SOX10_000013 - MORL Deafness Variation Database, PubMed: Chaoui 2011 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Barnett 2009, PubMed: Chaoui 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 3 c.521A>C r.(?) p.(Gln174Pro) Unknown - likely pathogenic (dominant) g.38374050T>G g.37978043T>G Q174P - SOX10_000013 - PubMed: Barnett 2009 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Barnett 2009 - M - - - - 0 - - 1 Veronique Pingault
+?/+? 3 c.523C>G r.(?) p.(Pro175Ala) Unknown - likely pathogenic (dominant) g.38374048G>C g.37978041G>C - - SOX10_000057 major functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - 0 - DNA DHPLC, SEQ - - ? - PubMed: Chaoui 2011 - F - - - - 0 - - 1 Veronique Pingault
+?/+? 3 c.524C>G r.(?) p.(Pro175Arg) Unknown - likely pathogenic (dominant) g.38374047G>C g.37978040G>C - - SOX10_000058 major functional effect in vitro PubMed: Chaoui 2011 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Chaoui 2011 - M - - - - 0 - - 1 Veronique Pingault
+?/+? 3 c.524C>T r.(?) p.(Pro175Leu) Unknown - likely pathogenic (dominant) g.38374047G>A g.37978040G>A - - SOX10_000059 major functional effect in vitro PubMed: Chaoui 2011 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Chaoui 2011 - - - - - - 0 - - 1 Veronique Pingault
+/+ 3 c.565G>T r.(?) p.(Glu189*) Parent #1 - pathogenic g.38374006C>A g.37977999C>A - - SOX10_000014 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Pingault 1998, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 3 c.565G>T r.(?) p.(Glu189*) Unknown - pathogenic (dominant) g.38374006C>A g.37977999C>A E189X (G>T at 565) - SOX10_000014 - PubMed: Pingault 1998 - - De novo - - - 0 - DNA SSCA, SEQ - - WS - PubMed: Pingault 1998 - M - - - - 0 - - 1 Veronique Pingault
+/. - c.610C>T r.(?) p.(Gln204*) Unknown - pathogenic g.38373961G>A - SOX10(NM_006941.3):c.610C>T (p.Q204*) - POLR2F_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.621C>A r.(?) p.(Tyr207*) Parent #1 - pathogenic g.38373950G>T g.37977943G>T - - SOX10_000134 - MORL Deafness Variation Database, PubMed: Chen 2015 - - SUMMARY record - - - 0 - DNA ? - - WS - PubMed: Chen 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 3 c.621C>G r.(?) p.(Tyr207*) Parent #1 - pathogenic g.38373950G>C g.37977943G>C - - SOX10_000015 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Southard-Smith 1999, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 3 c.621C>G r.(?) p.(Tyr207*) Unknown - pathogenic (dominant) g.38373950G>C - Y207X - SOX10_000015 - PubMed: Southard-Smith 1999 - - De novo - - - 0 - DNA SEQ - - WS - PubMed: Southard-Smith 1999 - M - - - - 0 - - 1 Veronique Pingault
+/+ 3 c.644_648del r.(?) p.(Arg215Profs*64) Unknown - pathogenic (dominant) g.38373923_38373927del g.37977917_37977921del c.644_648delGGCAC - SOX10_000016 - PubMed: Pingault 2010 - - De novo - - - 0 - DNA SEQ - - WS - PubMed: Elmaleh-Berges 2013, PubMed: Pingault 2010 - M - France - - 0 - - 1 Veronique Pingault
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