Full data view for gene PAX3

Information The variants shown are described using the NM_181457.3 transcript reference sequence.

277 entries on 3 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.-5466C>T r.(?) p.(=) Unknown - VUS g.223168800G>A - CCDC140(NM_153038.1):c.179G>A (p.(Arg60Lys)) - CCDC140_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7i_8_ c.(1173+1_1174-1)_*211{0} r.? p.? Unknown - pathogenic g.(?_223066432)_(223066910_223084858)del - 1173+?_(1452-33_?)del - PAX3_000125 Deletion of exons 8 and 9 PubMed: Wildhardt 2013 - - Germline - - - - - DNA MLPA - - WS - PubMed: Wildhardt 2013 - F - - - - - - - 1 Veronique Pingault
+/+ 4i_8_ c.(586+1_587-1_*211{0} r.? p.? Unknown - pathogenic g.(?_223066432)_(223097003_223158885)del - Exon 5-9 deletion - PAX3_000109 - PubMed: Milunsky 2007 - - Germline - - - - - DNA MLPA - - WS - PubMed: Milunsky 2007 - - - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - deletion 2q35-q36,1 or deletion (2)(q35q36.2) - PAX3_000101 whole gene deletion? PubMed: Wu 1993, PubMed: Lu-Kuo 1993 - - De novo - - - - - DNA FISH lymphocytes, cell line - WS - PubMed: Kirkpatrick 1992, PubMed: Wu 1993, PubMed: Lu-Kuo 1993 - M - - - - - - - 2 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - del (2)(q35q36) - PAX3_000102 whole gene deletion? PubMed: Pasteris 1993 - - De novo - - - - - DNA FISH, Southern Cell line - WS - PubMed: Pasteris 1993 - F - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - del (2)(q33q35) - PAX3_000103 whole gene deletion? PubMed: Pasteris 1993 - - Germline - - - - - DNA FISH, Southern Cell line - ? - PubMed: Pasteris 1993 - - - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - deletion 2q34-q36,2 - PAX3_000104 whole gene deletion PubMed: Tassabehji 1994 - - De novo - - - - - DNA Southern Flow-sorted chromosome - WS - PubMed: Tassabehji 1994 - M - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - whole gene deletion - PAX3_000105 - PubMed: Milunsky 2007 - - Germline - - - - - DNA MLPA - - WS - PubMed: Milunsky 2007 - - - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - whole gene deletion - PAX3_000106 - PubMed: Milunsky 2007 - - Germline - - - - - DNA MLPA - - WS - PubMed: Milunsky 2007 - - - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - whole gene deletion - PAX3_000107 - PubMed: Milunsky 2007 - - Germline - - - - - DNA MLPA - - WS - PubMed: Milunsky 2007 - - - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_223066432)_(223163715_?)del - - - PAX3_000111 whole gene deletion, 1.8-2.6 Mb PubMed: Matsunaga 2013 - - Germline - - - - - DNA MLPA, PCRq - - WS - PubMed: Matsunaga 2013 - F - Japan - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Paternal (inferred) - pathogenic g.(?_223066432)_(223163715_?)del - (?_-61)_(1452-33_?) - PAX3_000123 whole gene deletion PubMed: Wildhardt 2013 - - Germline - - - - - DNA MLPA - - WS - PubMed: Wildhardt 2013 - M - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-381_*211{0} r.0 p.0 Unknown - pathogenic g.(?_223066432)_(223163715_?)del - (?_-61)_(1452-33_?) - PAX3_000126 whole gene deletion PubMed: Wildhardt 2013 - - Germline - - - - - DNA MLPA - - WS - PubMed: Wildhardt 2013 - F - - - - - - - 1 Veronique Pingault
+/+ 1 c.1-?_? r.0? p.0? Paternal (inferred) - pathogenic g.? - Exon 1 deletion - PAX3_000108 4.07kb deletion including exon1 and promoter PubMed: Milunsky 2007 - - Germline - - - - - DNA MLPA - - WS - PubMed: Milunsky 2007 - F - - - - - - - 1 Veronique Pingault
+/. - c.52C>T r,(?) p.(Gln18Ter) Parent #1 - pathogenic (dominant) g.223163283G>A g.222298564G>A - - PAX3_000201 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.60C>G r.(?) p.(Tyr20Ter) Unknown - pathogenic g.223163275G>C g.222298556G>C - - PAX3_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.64C>A r.(?) p.(Arg22Ser) Parent #1 - pathogenic g.223163271G>T g.222298552G>T - - PAX3_000190 - MORL Deafness Variation Database, PubMed: Ptok 2006 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Ptok 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.86-3C>G r.spl? p.? Unknown - pathogenic g.223161935G>C g.222297216G>C - - PAX3_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.86-2A>G r.spl p.? Parent #1 - pathogenic g.223161934T>C g.222297215T>C 86-2 A>G - PAX3_000001 - PubMed: Attaie 1997 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Attaie 1997 - - - - - - - - - 1 Veronique Pingault
+/+ 1i c.86-2A>T r.spl p.? Unknown - pathogenic g.223161934T>A g.222297215T>A 86>2A>T - PAX3_000002 - PubMed: Soejima 1997 - - Germline - - - - - DNA SEQ - - WS - PubMed: Soejima 1997 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.101dup r.(?) p.(Gln35Profs*79) Parent #1 - pathogenic g.223161917dup g.222297199dup ins at codon 63 ; 1bpâ–¼34;FS113TER - PAX3_000003 - PubMed: Morell 1993 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Asher (990, PubMed: Morell 1993 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.111dup r.(?) p.(Val38Argfs*76) Unknown - pathogenic g.223161907dup g.222297188dup 111dupC - PAX3_000113 - PubMed: Wildhardt 2013 - - Germline - - - - - DNA SEQ - - WS - PubMed: Wildhardt 2013 - M - - - - - - - 1 Veronique Pingault
+?/+? 2 c.115A>T r.(?) p.(Asn39Tyr) Parent #1 - likely pathogenic g.223161903T>A g.222297184T>A - - PAX3_000004 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - - - - - - - - - 1 Veronique Pingault
+?/. - c.117C>G r.(?) p.(Asn39Lys) Unknown - likely pathogenic g.223161901G>C g.222297182G>C - - PAX3_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.118C>T r.(?) p.(Gln40Ter) Unknown - pathogenic g.223161900G>A g.222297181G>A - - PAX3_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.127G>A r.(?) p.(Gly43Ser) Unknown - likely pathogenic g.223161891C>T g.222297172C>T - - PAX3_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129T>C r.(?) p.(Gly43=) Unknown - benign g.223161889A>G g.222297170A>G PAX3(NM_181458.4):c.129T>C (p.G43=) - PAX3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129T>C r.(?) p.(Gly43=) Unknown - benign g.223161889A>G g.222297170A>G PAX3(NM_181458.4):c.129T>C (p.G43=) - PAX3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.133T>C r.(?) p.(Phe45Leu) Parent #1 - pathogenic g.223161885A>G g.222297166A>G - - PAX3_000005 - MORL Deafness Variation Database, PubMed: Tassabehji 1994, PubMed: Fortin 1997 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Tassabehji 1994, PubMed: Fortin 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.133T>C r.(?) p.(Phe45Leu) Parent #1 - likely pathogenic g.223161885A>G g.222297166A>G F45L - PAX3_000005 - PubMed: Tassabehji 1994 - - Germline - - - - - DNA SSCA, HD, SEQ - - WS - PubMed: Tassabehji 1994 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.139A>C r.(?) p.(Asn47His) Parent #1 - pathogenic g.223161879T>G g.222297160T>G - - PAX3_000006 - MORL Deafness Variation Database, PubMed: Sheffer 1992, PubMed: Goodman 1982, PubMed: Hoth 1993, PubMed: Fortin 1997 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Sheffer 1992, PubMed: Goodman 1982, PubMed: Hoth 1993, PubMed: Fortin 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.139A>C r.(?) p.(Asn47His) Parent #1 - likely pathogenic g.223161879T>G g.222297160T>G 352A>C; Asn>His at 47 - PAX3_000006 - PubMed: Hoth 1993 - - Germline - - - - - DNA SEQ - - WS - PubMed: Sheffer 1992, PubMed: Hoth 1993 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.141C>G r.(?) p.(Asn47Lys) Parent #1 - pathogenic g.223161877G>C g.222297158G>C - - PAX3_000007 - MORL Deafness Variation Database, PubMed: Sommer 1983 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Sommer 1983, PubMed: Asher JH Jr 1996 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.141C>G r.(?) p.(Asn47Lys) Parent #1 - likely pathogenic g.223161877G>C g.222297158G>C - - PAX3_000007 - PubMed: Asher 1996 - - Germline - - - - - DNA SSCA, SEQ - - CDHS - PubMed: Asher 1996 - - - - - - - - - 1 Veronique Pingault
+?/+? 2 c.142G>C r.(?) p.(Gly48Arg) Parent #1 - likely pathogenic g.223161876C>G g.222297157C>G Gly48>Arg - PAX3_000008 - PubMed: Pandya 1996 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Pandya 1996 - - - United Kingdom (Great Britain);United States Ireland; native American - - - - 1 Veronique Pingault
+/+ 2 c.142G>T r.(?) p.(Gly48Cys) Parent #1 - pathogenic g.223161876C>A g.222297157C>A - - PAX3_000189 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - WS - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.143G>A r.(?) p.(Gly48Asp) Maternal (inferred) - likely pathogenic g.223161875C>T g.222297156C>T - - PAX3_000114 - PubMed: Wildhardt 2013 - - Germline - - - - - DNA SEQ - - WS - PubMed: Wildhardt 2013 - F - - - - - - - 1 Veronique Pingault
+/+ 2 c.145_148dup r.(?) p.(Pro50Glnfs*65) Unknown - pathogenic g.223161870_223161873dup g.222297154_222297157dup Ins146+4 (R49fsX160) dupGGCA - PAX3_000009 - PubMed: Wollnik 2003 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Wollnik 2003 - - - Turkey - - - - - 1 Veronique Pingault
+/+ 2 c.149C>T r.(?) p.(Pro50Leu) Parent #1 - pathogenic g.223161869G>A g.222297150G>A - - PAX3_000010 - MORL Deafness Variation Database, PubMed: Baldwin 1992, PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: da-Silva 1991, PubMed: Fortin 1997 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Baldwin 1992, PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: da-Silva 1991, PubMed: Fortin 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.149C>T r.(?) p.(Pro50Leu) Parent #1 - likely pathogenic g.223161869G>A g.222297150G>A Pro (CCG) to Leu (CTG) in exon 2 - PAX3_000010 - PubMed: Baldwin 1992 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: [Da-Silva (1991)] - - - Brazil - - - - - 1 Veronique Pingault
-/. - c.156C>G r.(?) p.(Pro52=) Unknown - benign g.223161862G>C g.222297143G>C - - PAX3_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.164T>A r.(?) p.(Ile55Asn) Parent #1 - pathogenic g.223161854A>T g.222297135A>T - - PAX3_000188 - MORL Deafness Variation Database, PubMed: Ptok 2006 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Ptok 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.166C>T r.(?) p.(Arg56Cys) Maternal (confirmed) ACMG pathogenic g.223161852G>A - - - PAX3_000191 - - - - Germline - - - - - DNA SEQ-NG - - WS1, WS4A - - - - - - - - - - - 1 Anju Shukla
?/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - VUS g.223161852G>A - - - PAX3_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.167G>A r.(?) p.(Arg56His) Unknown - likely pathogenic g.223161851C>T g.222297132C>T - - PAX3_000012 - PubMed: Pingault 2010 - - De novo - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - M - - - - - - - 1 Veronique Pingault
+/+ 2 c.167G>T r.(?) p.(Arg56Leu) Parent #1 - pathogenic g.223161851C>A g.222297132C>A - - PAX3_000011 - MORL Deafness Variation Database, PubMed: Carezani-Gavin 1992, PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: Fortin 1997, PubMed: Armoni 2002 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Carezani-Gavin 1992, PubMed: Hoth 1993, PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: Fortin 1997, PubMed: Armoni 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.167G>T r.(?) p.(Arg56Leu) Parent #1 - likely pathogenic g.223161851C>A g.222297132C>A 380G>T; Arg>Leu at 56 - PAX3_000011 - PubMed: Hoth 1993 - - Germline - - - - - DNA SEQ - - WS - PubMed: Carezani-Gavin 1992, PubMed: Hoth 1993 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.169del r.(?) p.(His57Thrfs*53) Parent #1 - pathogenic g.223161849del g.222297131del 1bp del of (C)169 - PAX3_000013 - PubMed: Pandya 1996 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Pandya 1996 - - - France - - - - - 1 Veronique Pingault
+?/+? 2 c.175A>T r.(?) p.(Ile59Phe) Parent #1 - likely pathogenic g.223161843T>A g.222297124T>A A to T, Ile to Phe at 59 - PAX3_000014 - PubMed: Soejima 1997 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Soejima 1997 - - - - - - - - - 1 Veronique Pingault
+?/+? 2 c.175A>T r.(?) p.(Ile59Phe) Maternal (confirmed) - likely pathogenic g.223161843T>A g.222297124T>A - - PAX3_000014 - PubMed: Matsunaga 2013 - - Germline - - - - - DNA SEQ - - WS - PubMed: Matsunaga 2013 - M - Japan - - - - - 1 Veronique Pingault
+/+ 2 c.176T>A r.(?) p.(Ile59Asn) Parent #1 - pathogenic g.223161842A>T g.222297123A>T - - PAX3_000094 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - WS - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.176T>A r.(?) p.(Ile59Asn) Unknown - likely pathogenic g.223161842A>T g.222297123A>T t176t->A, I59N - PAX3_000094 - Markova 1998 Human Mutation, Mutation and polymorphism report#34 online - - Germline - - - - - DNA SSCA, SEQ - - WS - Markova 1998 Human Mutation, Mutation and polymorphism report#34 online - - - Russia - - - - - 1 Veronique Pingault
+?/+? 2 c.178G>A r.(?) p.(Val60Met) Unknown - likely pathogenic g.223161840C>T g.222297121C>T V60M - PAX3_000015 - PubMed: Baldwin 1995 - - Germline - - - - - DNA CSGE, SEQ - - WS - PubMed: Baldwin 1995 - - - - - - - - - 1 Veronique Pingault
+?/+? 2 c.178G>A r.(?) p.(Val60Met) Unknown - likely pathogenic g.223161840C>T g.222297121C>T G178A (V60M) - PAX3_000015 - PubMed: Wollnik 2003 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Wollnik 2003 - - - Turkey - - - - - 1 Veronique Pingault
+?/. - c.184A>G r.(?) p.(Met62Val) Unknown - likely pathogenic g.223161834T>C g.222297115T>C PAX3(NM_181458.3):c.184A>G (p.M62V) - PAX3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.184A>G r.(?) p.(Met62Val) Parent #1 - pathogenic g.223161834T>C g.222297115T>C - - PAX3_000017 - MORL Deafness Variation Database, PubMed: Pierpont 1994 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Pierpont 1994 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.184A>G r.(?) p.(Met62Val) Parent #1 - likely pathogenic g.223161834T>C g.222297115T>C M62V - PAX3_000017 - PubMed: Hol 1998 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Hol 1998 - - - - - - - - - 1 Veronique Pingault
+?/+ 2 c.185_202del r.(?) p.(Met62_Ile67del) Parent #1 - likely pathogenic g.223161816_223161833del g.222297097_222297114del 185_202del18 - PAX3_000018 - PubMed: Tassabehji 1992 - - Germline - - - - - DNA HD, SEQ - - WS - PubMed: Foy 1990, PubMed: Tassabehji 1992 - - - - - - - - - 1 Veronique Pingault
+?/+? 2 c.186G>A r.(?) p.(Met62Ile) Paternal (inferred) - likely pathogenic g.223161832C>T g.222297113C>T - - PAX3_000115 - PubMed: Wildhardt 2013 - - Germline - - - - - DNA SEQ - - WS - PubMed: Wildhardt 2013 - F - - - - - - - 1 Veronique Pingault
+/+ 2 c.191_207del r.(?) p.(His64Leufs*44) Unknown - pathogenic g.223161811_223161827del g.222297097_222297113del nt 191del(17) - PAX3_000019 - PubMed: Tassabehji 1995 - - Germline - - - - - DNA SSCA, HD, SEQ - - WS - PubMed: Tassabehji 1995 - - - - - - - - - 1 Veronique Pingault
+?/+? 2 c.202C>G r.(?) p.(Arg68Gly) Parent #1 - likely pathogenic g.223161816G>C g.222297097G>C - - PAX3_000020 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - - - - - - - - - 1 Veronique Pingault
+?/. - c.214A>G r.(?) p.(Ile72Val) Unknown ACMG VUS g.223161804T>C - - - PAX3_000196 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I Blood - WS1 S-4 - - M ? China Chinese - - - - 1 Jian Song
+/. - c.218C>T r.(?) p.(Ser73Leu) Unknown - pathogenic g.223161800G>A g.222297081G>A - - PAX3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.218C>T r.(?) p.(Ser73Leu) Parent #1 - likely pathogenic g.223161800G>A g.222297081G>A S73L - PAX3_000021 - PubMed: Sotirova 2000 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Sotirova 2000 - - - Iran - - - - - 1 Veronique Pingault
-?/. - c.219G>A r.(?) p.(Ser73=) Unknown - likely benign g.223161799C>T g.222297080C>T PAX3(NM_181458.3):c.219G>A (p.S73=) - PAX3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - pathogenic g.223161798G>A g.222297079G>A - - PAX3_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.223C>T r.(?) p.(Gln75*) Parent #1 - pathogenic g.223161795G>A g.222297076G>A Gln75>Term - PAX3_000022 - PubMed: Pandya 1996 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Pandya 1996 - - - Italy - - - - - 1 Veronique Pingault
+?/+? 2 c.232G>A r.(?) p.(Val78Met) Unknown - likely pathogenic g.223161786C>T g.222297067C>T V78M - PAX3_000023 - PubMed: Tassabehji 1995 - - Germline - - - - - DNA SSCA, HD, SEQ - - WS - PubMed: Tassabehji 1995 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.238C>G r.(?) p.(His80Asp) Parent #1 - pathogenic g.223161780G>C g.222297061G>C - - PAX3_000096 - MORL Deafness Variation Database, PubMed: Alford 2014, PubMed: Milunsky 1993, PubMed: Zhang 2012 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Alford 2014, PubMed: Milunsky 1993, PubMed: Chen 2010, PubMed: Zhang 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+? 2 c.238C>G r.(?) p.(His80Asp) Unknown - pathogenic g.223161780G>C g.222297061G>C - - PAX3_000096 inherited from an unaffected father PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - WS - PubMed: Chen 2010 - - - China - - - - - 1 Veronique Pingault
+?/+? 2 c.241G>C r.(?) p.(Gly81Arg) Unknown - likely pathogenic g.223161777C>G g.222297058C>G - - PAX3_000024 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - - - - - - - - - 1 Veronique Pingault
?/? 2 c.241G>T r.(?) p.(Gly81Cys) Parent #1 - VUS g.223161777C>A g.222297058C>A - - PAX3_000187 - MORL Deafness Variation Database, PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: Tang 2015 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: Tang 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.242G>C r.(?) p.(Gly81Ala) Parent #1 - pathogenic g.223161776C>G g.222297057C>G - - PAX3_000025 - MORL Deafness Variation Database, PubMed: Tassabehji 1995, PubMed: Alford 2014, PubMed: Hoth 1993, PubMed: Milunsky 1993, PubMed: Reynolds 1995, PubMed: Fortin 1997 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Tassabehji 1995, PubMed: Alford 2014, PubMed: Hoth 1993, PubMed: Milunsky 1993, PubMed: Reynolds 1995, PubMed: Tassabehji 1993, PubMed: Fortin 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.242G>C r.(?) p.(Gly81Ala) Parent #1 - likely pathogenic g.223161776C>G g.222297057C>G Gly to Ala in exon 2 - PAX3_000025 - PubMed: Tassabehji 1993 - - Germline - - - - - DNA HD, SEQ - - WS - PubMed: Tassabehji 1993 Initialy reported as WS2 - - - - - - - - 1 Veronique Pingault
+?/. - c.242G>T r.(?) p.(Gly81Val) Unknown - likely pathogenic g.223161776C>A g.222297057C>A - - PAX3_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.251C>T r.(?) p.(Ser84Phe) Parent #1 - pathogenic g.223161767G>A g.222297048G>A - - PAX3_000026 - MORL Deafness Variation Database, PubMed: Milunsky 1993, PubMed: Zlotogora 1995, PubMed: Alford 2014, PubMed: Fortin 1997 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Milunsky 1993, PubMed: Zlotogora 1995, PubMed: Alford 2014, PubMed: Fortin 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.251C>T r.(?) p.(Ser84Phe) Parent #1 - likely pathogenic g.223161767G>A g.222297048G>A S84F - PAX3_000026 - PubMed: Zlotogora 1995 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Zlotogora 1995 - - yes Palestine - - - - - 1 Veronique Pingault
+?/+? 2 c.251C>T r.(?) p.(Ser84Phe) Unknown - likely pathogenic g.223161767G>A g.222297048G>A S84F - PAX3_000026 - PubMed: Zlotogora 1995 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Zlotogora 1995 - M yes Palestine - - - - - 1 Veronique Pingault
+?/+? 2 c.253A>G r.(?) p.(Lys85Glu) Parent #1 - likely pathogenic g.223161765T>C g.222297046T>C K85E - PAX3_000027 - PubMed: Baldwin 1995 - - Germline - - - - - DNA CSGE, SEQ - - WS - PubMed: Baldwin 1995 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.260del r.(?) p.(Leu87Argfs*23) Unknown - pathogenic g.223161758del g.222297039del 260delT - PAX3_000092 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - F - - - - - - - 1 Veronique Pingault
+/+ 2 c.266_279del r.(?) p.(Tyr90Leufs*19) Parent #1 - pathogenic g.223161739_223161752del g.222297020_222297033del 14 bp deletion in the paired domain - PAX3_000028 - PubMed: Morell 1992 - - Germline - - - - - DNA HD, Southern, SEQ - - WS - PubMed: Morell 1992 - - - Indonesia - - - - - 1 Veronique Pingault
+?/. - c.267G>T r.(?) p.(Arg89Ser) Unknown - likely pathogenic g.223161751C>A g.222297032C>A - - PAX3_000202 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - WS - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+?/+? 2 c.268T>C r.(?) p.(Tyr90His) Parent #1 - likely pathogenic g.223161750A>G g.222297031A>G T268C (Y90H) - PAX3_000029 - PubMed: Wollnik 2003 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Wollnik 2003 - - yes Turkey - - - - - 1 Veronique Pingault
+?/+? 2 c.268T>C r.(?) p.(Tyr90His) Unknown - likely pathogenic g.223161750A>G g.222297031A>G T268C (Y90H) - PAX3_000029 - PubMed: Wollnik 2003 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Wollnik 2003 - F yes Turkey - - - - - 1 Veronique Pingault
+/+ 2 c.268_281del r.(?) p.(Tyr90Leufs*19) Parent #1 - pathogenic g.223161739_223161752del g.222297020_222297033del - - PAX3_000028 - MORL Deafness Variation Database, PubMed: Morell 1992 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Morell 1992 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.281G>T r.(?) p.(Gly94Val) Unknown - VUS g.223161737C>A g.222297018C>A - - PAX3_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.281G>T r.(?) p.(Gly94Val) Maternal (confirmed) ACMG likely pathogenic (dominant) g.223161737C>A - - - PAX3_000160 - PubMed: Batissoco 2021 ClinVar-SCV001792232 - Germline yes - - - - DNA SEQ Blood - WS1 ORO166 PubMed: Batissoco 2021 - M no Brazil Brazilian admixed >10y - - - 3 Karina Lezirovitz Mandelbaum
+?/. - c.281G>T r.(?) p.(Gly94Val) Paternal (inferred) ACMG likely pathogenic (dominant) g.223161737C>A - - - PAX3_000160 - PubMed: Batissoco 2021 ClinVar-SCV001792232 - Germline yes - - - - DNA SEQ Blood - WS1 ORO166M PubMed: Batissoco 2021 mother of 0000378132 F no Brazil Brazilian admixed - - - - 1 Karina Lezirovitz Mandelbaum
+?/. - c.281G>T r.(?) p.(Gly94Val) Paternal (inferred) ACMG likely pathogenic (dominant) g.223161737C>A - - - PAX3_000160 - PubMed: Batissoco 2021 - - Germline yes - - - - DNA SEQ Blood - WS1 ORO166T PubMed: Batissoco 2021 maternal uncle of ORO166 M no Brazil Brazilian admixed - - - - 1 Karina Lezirovitz Mandelbaum
+?/+? 2 c.284_289dup r.(?) p.(Ile96_Arg97insProIle) Unknown - likely pathogenic g.223161729_223161734dup g.222297010_222297015dup duplication of 6bp (ccatc) at codon 96 - PAX3_000095 - PubMed: Kohli 2010 - - Germline - - - - - DNA ? - - WS - PubMed: Kohli 2010 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.288del r.(?) p.(Arg97Valfs*13) Parent #1 - pathogenic g.223161730del g.222297011del 288delA - PAX3_000030 - PubMed: Tassabehji 1993 - - Germline - - - - - DNA HD, SEQ - - WS - PubMed: Foy 1990, PubMed: Tassabehji 1993 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.291dup r.(?) p.(Pro98Serfs*16) Parent #1 - pathogenic g.223161727dup g.222297008dup Insertion (T) in position 292 - PAX3_000031 - PubMed: Wildhardt 1996 - - Germline - - - - - DNA SEQ - - WS - PubMed: Wildhardt 1996 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.295G>A r.(?) p.(Gly99Ser) Parent #1 - pathogenic g.223161723C>T g.222297004C>T - - PAX3_000032 - MORL Deafness Variation Database, PubMed: Pingault 2010 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Pingault 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.295G>A r.(?) p.(Gly99Ser) Parent #1 - likely pathogenic g.223161723C>T g.222297004C>T [Gly99Ser]+[Arg270Cys] - PAX3_000032 - Bottani 1999 Am J Hum Genet 65:A143 - - Germline - - - - - DNA ? - - WS - Bottani 1999 Am J Hum Genet 65:A143, Klein 1947 - F - - - - - - - 1 Veronique Pingault
+/+ 2 c.296G>A r.(?) p.(Gly99Asp) Parent #1 - pathogenic g.223161722C>T g.222297003C>T - - PAX3_000033 - MORL Deafness Variation Database, PubMed: Fortin 1997 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Tassabehji 1994, PubMed: Fortin 1997 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 2 c.296G>A r.(?) p.(Gly99Asp) Parent #1 - likely pathogenic g.223161722C>T g.222297003C>T G99D - PAX3_000033 - PubMed: Tassabehji 1994 - - Germline - - - - - DNA SSCA, HD, SEQ - - WS - PubMed: Tassabehji 1994 - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.297_321+3del r.spl p.? Parent #1 - pathogenic g.223161694_223161721del - 297_321+3del28 - PAX3_000034 - PubMed: Baldwin 1994 - - Germline - - - - - DNA SEQ - - WS - PubMed: Baldwin 1994 - - - - - - - - - 1 Veronique Pingault
?/. - c.301A>G r.(?) p.(Ile101Val) Unknown - VUS g.223161717T>C - PAX3(NM_181458.4):c.301A>G (p.(Ile101Val)) - CCDC140_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.306del r.(?) p.(Gly103Alafs*7) Unknown - pathogenic g.223161712del - - - CCDC140_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321+3G>A r.spl? p.? Unknown - likely benign g.223161694C>T - PAX3(NM_181458.4):c.321+3G>A - CCDC140_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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