Full data view for gene EDNRB

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

128 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     
?/. 1i c.-51-974T>A r.(=) p.(=) Unknown - VUS g.78493733A>T g.77919598A>T EDNRB(NM_001201397.1):c.18T>A (p.C6*) - EDNRB_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1i c.-51-949A>T r.(=) p.(=) Parent #1 - VUS g.78493708T>A g.77919573T>A - - EDNRB_000119 - MORL Deafness Variation Database, PubMed: Parisi 1993, PubMed: Sánchez-Mejías 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Parisi 1993, PubMed: Sánchez-Mejías 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 1i c.-51-946del r.(=) p.(=) Unknown - VUS g.78493705del g.77919570del EDNRB(NM_001201397.1):c.46delC (p.R16Gfs*60) - EDNRB_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-51-936T>A r.(=) p.(=) Unknown - VUS g.78493695A>T - EDNRB(NM_001201397.1):c.56T>A (p.(Leu19Gln)) - EDNRB_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.-51-894C>A r.(=) p.(=) Unknown - VUS g.78493653G>T g.77919518G>T EDNRB(NM_001201397.1):c.98C>A (p.P33H) - EDNRB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.-51-806C>T r.(=) p.(=) Unknown - likely benign g.78493565G>A g.77919430G>A EDNRB(NM_001201397.1):c.186C>T (p.F62=) - EDNRB_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.-51-4C>G r.spl? p.? Unknown - likely benign g.78492763G>C g.77918628G>C EDNRB(NM_001201397.1):c.220-4C>G - EDNRB_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.-26G>A r.(?) p.(=) Unknown - likely benign g.78492734C>T g.77918599C>T EDNRB(NM_001122659.2):c.-26G>A (p.?), EDNRB(NM_001201397.1):c.245G>A (p.R82Q) - EDNRB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26G>A r.(?) p.(=) Unknown - likely benign g.78492734C>T - EDNRB(NM_001122659.2):c.-26G>A (p.?), EDNRB(NM_001201397.1):c.245G>A (p.R82Q) - EDNRB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21C>T r.(?) p.(=) Unknown - VUS g.78492729G>A - EDNRB(NM_001122659.2):c.-21C>T (p.?) - EDNRB_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.-5G>A r.(?) p.(=) Unknown - likely benign g.78492713C>T g.77918578C>T EDNRB(NM_001201397.1):c.266G>A (p.S89N) - EDNRB_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_8_ c.-234_*2719{0} r.0 p.0 Paternal (confirmed) - pathogenic g.(?_78469616)_(78549664_?)del g.(?_77895481)_(77975529_?)del whole gene deletion - EDNRB_000030 - PubMed: Pingault 2010 - - Germline - - - - - DNA PCRq - - WS - PubMed: Pingault 2010 - M - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-234_*2719{0} r.0 p.0 Unknown - pathogenic g.(?_78469616)_(78549664_?)del g.(?_77895481)_(77975529_?)del whole gene deletion - EDNRB_000030 non-deleted allele not sequenced PubMed: Van Camp 1995 - - De novo - - - - - DNA microscope, arrayCGH lymphocytes - WS - PubMed: Van Camp 1995 - M - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-234_*2719{0} r.0 p.0 Unknown - pathogenic g.(?_78469616)_(78549664_?)del g.(?_77895481)_(77975529_?)del Whole gene deletion - EDNRB_000030 non-deleted allele not sequenced PubMed: Shanske 2001 - - De novo - - - - - DNA microscope, arrayCGH lymphocytes - WS - PubMed: Shanske 2001 - F - - West Africa - - - - 1 Veronique Pingault
+/+ _1_8_ c.-234_*2719{0} r.0 p.0 Unknown - pathogenic g.(?_78469616)_(78549664_?)del g.(?_77895481)_(77975529_?)del Whole gene deletion - EDNRB_000030 non-deleted allele not sequenced PubMed: Tuysuz 2009 - - De novo - - - - - DNA FISH lymphocytes - WS - PubMed: Tuysuz 2009 + 13q deletion syndrome M - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-234_*2719{0} r.0 p.0 Unknown - pathogenic g.(?_78469616)_(78549664_?)del g.(?_77895481)_(77975529_?)del Whole gene deletion - EDNRB_000030 non-deleted allele not sequenced PubMed: Tuysuz 2009} - - De novo - - - - - DNA FISH lymphocytes - WS - PubMed: Tuysuz 2009} + 13q deletion syndrome F - - - - - - - 1 Veronique Pingault
+/+ _1_8_ c.-234_*2719{0} r.0 p.0 Unknown - pathogenic g.(?_78469616)_(78549664_?)del g.(?_77895481)_(77975529_?)del Whole gene deletion - EDNRB_000030 non-deleted allele not sequenced PubMed: Tuysuz 2009} - - De novo - - - - - DNA FISH lymphocytes - ? - PubMed: Tuysuz 2009} + 13q deletion syndrome F - - - - - - - 1 Veronique Pingault
?/+? 2 c.1A>G r.(?) p.? Maternal (confirmed) - VUS (!) g.78492708T>C g.77918573T>C p.Met1? - EDNRB_000037 incomplete penetrance; different initiation codon used in vitro but variant protein not localized to membrane; also has 45 kb de novo duplication DACH1 PubMed: Cui 2013 - - Germline - - - - - DNA arrayCGH, SEQ - - HSCR FamPatII5 PubMed: Cui 2013 3-generation family, 5 affected (2F, 3M), mixed phenotypes M - Brazil European - - - - 5 Veronique Pingault
-?/-? 2 c.13C>A r.(?) p.(Pro5Thr) Unknown - likely benign g.78492696G>T g.77918561G>T - - EDNRB_000001 - - - rs12720160 Germline - 0.00-0.006 - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Veronique Pingault
-?/-? 2 c.20T>A r.(?) p.(Leu7Gln) Unknown - likely benign g.78492689A>T g.77918554A>T - - EDNRB_000002 - - - rs5345 Germline - 0.00-0.005 - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.43_46del r.(?) p.(Leu15Phefs*30) Parent #1 - pathogenic g.78492664_78492667del g.77918529_77918532del - - EDNRB_000117 - MORL Deafness Variation Database, PubMed: Sánchez-Mejías 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Sánchez-Mejías 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 2 c.49C>T r.(?) p.(Leu17Phe) Unknown - likely benign g.78492660G>A g.77918525G>A - - EDNRB_000003 - - - rs5346 Germline - 0.00-0.005 - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Veronique Pingault
-?/. - c.94C>T r.(?) p.(Pro32Ser) Unknown - likely benign g.78492615G>A - EDNRB(NM_001201397.1):c.364C>T (p.(Pro122Ser)) - EDNRB_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.167A>C r.(?) p.(Lys56Thr) Parent #1 - pathogenic g.78492542T>G g.77918407T>G - - EDNRB_000116 - MORL Deafness Variation Database, PubMed: Sánchez-Mejías 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Sánchez-Mejías 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. 2 c.169G>A r.(?) p.(Gly57Ser) Unknown - likely benign g.78492540C>T g.77918405C>T EDNRB(NM_000115.3):c.169G>A (p.(Gly57Ser)) - EDNRB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/-? 2 c.169G>A r.(?) p.(Gly57Ser) Unknown - likely pathogenic g.78492540C>T g.77918405C>T G57S - EDNRB_000004 initialy referred as a disease-causing variant PubMed: Amiel 1996, PubMed: Hofstra 1996 - rs1801710 Germline - 0.00-0.08 - - - DNA DGGE, SSCA, SEQ - - Healthy/Control - PubMed: Amiel 1996, PubMed: Hofstra 1996 - - - - - - - - - 1 Veronique Pingault
?/? 2 c.178G>A r.(?) p.(Ala60Thr) Unknown - VUS g.78492531C>T g.77918396C>T 178G/A - EDNRB_000005 found in 3 HD patients and one control PubMed: Zaahl 2003 - - Unknown - - - - - DNA SSCA, SEQ - - HSCR - PubMed: Zaahl 2003 - - - China - - - - - 1 Veronique Pingault
?/. - c.191G>T r.(?) p.(Arg64Leu) Unknown - VUS g.78492518C>A - EDNRB(NM_000115.4):c.191G>T (p.R64L) - EDNRB_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.227G>T r.(?) p.(Arg76Met) Unknown - likely benign g.78492482C>A g.77918347C>A - - EDNRB_000006 - - - rs2228271 Germline - 0.00-0.006 - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Veronique Pingault
-?/. 2 c.247C>G r.(?) p.(Arg83Gly) Unknown - likely benign g.78492462G>C g.77918327G>C EDNRB(NM_000115.3):c.247C>G (p.(Arg83Gly)) - EDNRB_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.248G>A r.(?) p.(Arg83His) Unknown - likely benign g.78492461C>T g.77918326C>T EDNRB(NM_001201397.1):c.518G>A (p.R173H) - EDNRB_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.268T>C r.(?) p.(Cys90Arg) Parent #1 - pathogenic g.78492441A>G g.77918306A>G - - EDNRB_000115 - MORL Deafness Variation Database, PubMed: Chen 2006 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Chen 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.311A>T r.(?) p.(Asn104Ile) Parent #1 - pathogenic g.78492398T>A g.77918263T>A - - EDNRB_000114 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.314C>T r.(?) p.(Thr105Met) Unknown - VUS g.78492395G>A - EDNRB(NM_001122659.3):c.314C>T (p.(Thr105Met)) - EDNRB_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.325T>C r.(?) p.(Cys109Arg) Parent #1 - pathogenic g.78492384A>G g.77918249A>G - - EDNRB_000113 - MORL Deafness Variation Database, PubMed: Tanaka 1998 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Tanaka 1998 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.332T>A r.(?) p.(Val111Glu) Parent #1 - pathogenic g.78492377A>T g.77918242A>T - - EDNRB_000112 - MORL Deafness Variation Database, PubMed: Sangkhathat 2006 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Sangkhathat 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 2 c.334T>G r.(?) p.(Phe112Val) Unknown - likely benign g.78492375A>C g.77918240A>C - - EDNRB_000007 - - - rs5347 Germline - 0.00-0.005 - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Veronique Pingault
+/+ 2 c.343G>A r.(?) p.(Gly115Arg) Parent #1 - pathogenic g.78492366C>T g.77918231C>T - - EDNRB_000111 - MORL Deafness Variation Database, PubMed: Sánchez-Mejías 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Sánchez-Mejías 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.396G>A r.(?) p.(Met132Ile) Parent #1 - pathogenic g.78492313C>T g.77918178C>T - - EDNRB_000110 - MORL Deafness Variation Database, PubMed: Lin 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Lin 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.397C>T r.(?) p.(Arg133*) Parent #1 - pathogenic g.78492312G>A g.77918177G>A - - EDNRB_000109 - MORL Deafness Variation Database, PubMed: Granström 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Granström 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 2 c.421G>T r.(?) p.(Ala141Ser) Unknown - VUS g.78492288C>A g.77918153C>A - - EDNRB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.460G>T r.(?) p.(Asp154Tyr) Unknown - likely benign g.78492249C>A g.77918114C>A - - EDNRB_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.466C>T r.(?) p.(Pro156Ser) Parent #1 - pathogenic g.78492243G>A g.77918108G>A - - EDNRB_000108 - MORL Deafness Variation Database, PubMed: Sánchez-Mejías 2010 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Sánchez-Mejías 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.469A>G r.(?) p.(Ile157Val) Parent #1 - pathogenic g.78492240T>C g.77918105T>C - - EDNRB_000107 - MORL Deafness Variation Database, PubMed: Lin 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Lin 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 3 c.509G>A r.(?) p.(Gly170Glu) Unknown - likely pathogenic g.78477717C>T g.77903582C>T - - EDNRB_000008 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 consanguineous family F - Brazil - - - - - 1 Veronique Pingault
+?/+? 3 c.509G>A r.(?) p.(Gly170Glu) Unknown - likely pathogenic g.78477717C>T g.77903582C>T - - EDNRB_000008 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - - - - - - - - - 1 Veronique Pingault
+/+ 3 c.518T>C r.(?) p.(Met173Thr) Parent #1 - pathogenic g.78477708A>G g.77903573A>G - - EDNRB_000105 - MORL Deafness Variation Database, PubMed: Lin 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Lin 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.532C>A r.(?) p.(Pro178Thr) Unknown - VUS g.78477694G>T - - - EDNRB_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.540A>G r.(?) p.(Ile180Met) Unknown - VUS g.78477686T>C - EDNRB(NM_000115.4):c.540A>G (p.I180M) - EDNRB_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.548C>G r.(?) p.(Ala183Gly) Unknown - likely pathogenic g.78477678G>C g.77903543G>C A183G - EDNRB_000009 - PubMed: Attie 1995 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Attie 1995, PubMed: Attie 1995 - F yes Tunisia - - - - - 1 Veronique Pingault
-/. 3 c.552= r.(=) p.(Ser184=) Unknown - benign g.78477674A>G g.77903539A>G EDNRB(NM_001201397.1):c.822T>C (p.S274=), EDNRB-AS1(NR_103853.1):n.1695-4153A>G - EDNRB_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.553G>A r.(?) p.(Val185Met) Parent #1 - pathogenic g.78477673C>T g.77903538C>T - - EDNRB_000010 - MORL Deafness Variation Database, PubMed: Zhou 2006 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Zhou 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 3 c.553G>A r.(?) p.(Val185Met) Unknown - VUS g.78477673C>T g.77903538C>T V185M - EDNRB_000010 found in HD patients and one control PubMed: Garcia-Barcelo 2004 - - Unknown - - - - - DNA SEQ - - HSCR - PubMed: Garcia-Barcelo 2004 - - - China - - - - - 1 Veronique Pingault
-?/. 3 c.553G>A r.(?) p.(Val185Met) Unknown - likely benign g.78477673C>T - - - EDNRB_000010 - PubMed: Pingault 2010 - - Unknown - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - M - - - - - - - 1 Veronique Pingault
+/. 3 c.553G>A r.(?) p.(Val185Met) Both (homozygous) - pathogenic (recessive) g.78477673C>T - c.553G > A (p.V185M) - EDNRB_000010 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ-NG, SEQ Peripheral blood - retinal disease II-4 PubMed: Wang 2017 - F no China Chinese - - - - 1 LOVD
+/. 3 c.553G>A r.(?) p.(Val185Met) Unknown - pathogenic (recessive) g.78477673C>T - c.553G > A (p.V185M) - EDNRB_000010 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, PCR Peripheral blood - retinal disease II-5 PubMed: Wang 2017 - M no China Chinese - - - - 1 LOVD
+/. - c.553G>A r.(?) p.(Val185Met) Both (homozygous) - pathogenic (recessive) g.78477673C>T g.77903538C>T - - EDNRB_000010 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4005 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 3 c.556G>A r.(?) p.(Gly186Arg) Parent #1 - pathogenic g.78477670C>T g.77903535C>T - - EDNRB_000011 - MORL Deafness Variation Database, PubMed: Payne 2001 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Payne 2001 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 3 c.556G>A r.(?) p.(Gly186Arg) Unknown - likely pathogenic g.78477670C>T g.77903535C>T - - EDNRB_000011 parents not tested; hemizygosity or disomy cannot be ruled out PubMed: Boardman 2001 - - Germline - - - - - DNA SEQ - - WS - PubMed: Boardman 2001 - F no Somalia - - - - - 1 Veronique Pingault
+?/+? 3 c.587G>A r.(?) p.(Ser196Asn) Unknown - likely pathogenic g.78477639C>T g.77903504C>T - - EDNRB_000012 - PubMed: Sangkhathat 2005 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Sangkhathat 2005 - F no Thailand - - - - - 1 Veronique Pingault
+?/+? 3 c.587G>C r.(?) p.(Ser196Thr) Unknown - likely pathogenic g.78477639C>G g.77903504C>G - - EDNRB_000013 - PubMed: Pingault 2010 - - Unknown - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - M - - - - - - - 1 Veronique Pingault
+/+ 4 c.601C>T r.(?) p.(Arg201*) Parent #1 - pathogenic g.78477491G>A g.77903356G>A - - EDNRB_000014 - MORL Deafness Variation Database, PubMed: Gross 1995, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Gross 1995, PubMed: Verheij 2002, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.601C>T r.(?) p.(Arg201*) Unknown - pathogenic g.78477491G>A g.77903356G>A R201X - EDNRB_000014 - PubMed: Verheij 2002 - - Germline - - - - - DNA DGGE, SEQ - - ? - PubMed: Verheij 2002 - - yes Turkey - - - - - 1 Veronique Pingault
+/+ 4 c.601C>T r.(?) p.(Arg201*) Unknown - pathogenic g.78477491G>A g.77903356G>A - - EDNRB_000014 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - M yes Pakistan - - - - - 1 Veronique Pingault
+/. - c.601C>T r.(?) p.(Arg201*) Unknown - pathogenic g.78477491G>A - - - EDNRB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.605C>A r.(?) p.(Ala202Asp) Maternal (confirmed) - likely pathogenic g.78477487G>T g.77903352G>T - - EDNRB_000015 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - - - Italy - - - - - 1 Veronique Pingault
+/. 4 c.667del r.(?) p.(Val223PhefsTer2) Unknown - pathogenic g.78477425del g.77903290del EDNRB(NM_001201397.1):c.937delG (p.V313Ffs*2) - EDNRB_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674T>C r.(?) p.(Ile225Thr) Unknown - VUS g.78477418A>G - - - EDNRB_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.678G>T r.(?) p.(Trp226Cys) Parent #1 - pathogenic g.78477414C>A g.77903279C>A - - EDNRB_000097 - MORL Deafness Variation Database, PubMed: Svensson 1999 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Svensson 1999 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 4 c.686C>T r.(?) p.(Ser229Phe) Unknown - VUS g.78477406G>A g.77903271G>A - - EDNRB_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722A>C r.(?) p.(Asp241Ala) Unknown - VUS g.78477370T>G - EDNRB(NM_001201397.1):c.992A>C (p.(Asp331Ala)) - EDNRB_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.723T>C r.(=) p.(=) Parent #1 - likely pathogenic g.78477369A>G g.77903234A>G - - EDNRB_000096 - MORL Deafness Variation Database, PubMed: Garcia-Barceló 2004 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Garcia-Barceló 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.731C>T r.(?) p.(Thr244Met) Unknown - likely benign g.78477361G>A g.77903226G>A - - EDNRB_000016 - - - rs5350 Germline - 0.00-0.005 - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Veronique Pingault
-?/. - c.732G>A r.(?) p.(Thr244=) Unknown - likely benign g.78477360C>T - EDNRB(NM_000115.4):c.732G>A (p.T244=) - EDNRB_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.736_737delinsTT r.(?) p.(Asp246Phe) Parent #1 - likely pathogenic g.78477355_78477356delinsAA g.77903220_77903221delinsAA - - EDNRB_000095 - MORL Deafness Variation Database, PubMed: Soufir 2005 - - SUMMARY record - - - - - DNA ? - - melanoma - PubMed: Soufir 2005 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.757C>T r.(?) p.(Arg253*) Parent #1 - pathogenic g.78477335G>A g.77903200G>A - - EDNRB_000017 - MORL Deafness Variation Database, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - WS - PubMed: Syrris 1999, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.757C>T r.(?) p.(Arg253*) Unknown - pathogenic g.78477335G>A g.77903200G>A Arg253→Stop - EDNRB_000017 - PubMed: Syrris 1999 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Syrris 1999 - - - - Caribbean - - - - 1 Veronique Pingault
+/. - c.777delC r.(?) p.(Val260Phefs*36) Paternal (confirmed) ACMG pathogenic g.78477317del g.77903182del 777delC - EDNRB_000121 - - - - Germline - - - - - DNA SEQ-NG - - WS1, WS4A - - - - - - - - - - - 1 Anju Shukla
-?/. 4 c.778G>A r.(?) p.(Val260Ile) Unknown - likely benign g.78477314C>T g.77903179C>T EDNRB(NM_000115.3):c.778G>A (p.(Val260Ile)) - EDNRB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.778G>T r.(?) p.(Val260Phe) Unknown - likely benign g.78477314C>A g.77903179C>A EDNRB(NM_001201397.1):c.1048G>T (p.V350F) - EDNRB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.778G>T r.(?) p.(Val260Phe) Unknown - VUS g.78477314C>A g.77903179C>A - - EDNRB_000018 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - - - - - - - - - 1 Veronique Pingault
+/+ 4i c.801+2T>C r.spl? p.? Parent #1 - pathogenic g.78477289A>G g.77903154A>G - - EDNRB_000093 - MORL Deafness Variation Database, PubMed: Inoue 1998 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Inoue 1998 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.809del r.(?) p.(Lys270Argfs*26) Maternal (confirmed) - pathogenic g.78475335del g.77901201del 809delA - EDNRB_000019 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - - - Italy - - - - - 1 Veronique Pingault
+/+ 5 c.824G>A r.(?) p.(Trp275*) Parent #1 - pathogenic g.78475320C>T g.77901185C>T - - EDNRB_000091 - MORL Deafness Variation Database, PubMed: Kusafuka 1996, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Kusafuka 1996, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.828G>T r.(?) p.(Trp276Cys) Parent #1 - pathogenic g.78475316C>A g.77901181C>A - - EDNRB_000020 - MORL Deafness Variation Database, PubMed: Parisi 1993 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Parisi 1993, PubMed: Puffenberger 1994 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 5 c.828G>T r.(?) p.(Trp276Cys) Unknown - likely pathogenic (!) g.78475316C>A g.77901181C>A W276C - EDNRB_000020 incomplete penetrance PubMed: Puffenberger 1994 - - Germline - - - - - DNA SSCA, SEQ - - WS - PubMed: Puffenberger 1994 very large inbred family over several generations - yes United States Mennonite - - - - 1 Veronique Pingault
-/. 5 c.831A>G r.(?) p.(Leu277=) Unknown - benign g.78475313T>C g.77901178T>C EDNRB(NM_001201397.1):c.1101A>G (p.L367=), EDNRB-AS1(NR_103853.1):n.1695-6514T>C - EDNRB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.831A>G r.(?) p.(Leu277=) Unknown - benign g.78475313T>C g.77901178T>C EDNRB(NM_001201397.1):c.1101A>G (p.L367=), EDNRB-AS1(NR_103853.1):n.1695-6514T>C - EDNRB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.874T>C r.(?) p.(Phe292Leu) Unknown - likely pathogenic g.78475270A>G g.77901135A>G F292L - EDNRB_000021 - PubMed: Pingault 2002 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2002 - - - - - - - - - 1 Veronique Pingault
+/+ 5 c.877dup r.(?) p.(Tyr293Leufs*7) Parent #1 - pathogenic g.78475273dup g.77901138dup - - EDNRB_000089 - MORL Deafness Variation Database, PubMed: Kusafuka 1996 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Kusafuka 1996 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. 5 c.885A>G r.(?) p.(Leu295=) Unknown - likely benign g.78475259T>C g.77901124T>C EDNRB(NM_001201397.1):c.1155A>G (p.L385=) - EDNRB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.890C>A r.(?) p.(Thr297Asn) Unknown - likely pathogenic g.78475254G>T g.77901119G>T - - EDNRB_000022 - PubMed: Pingault 2010 - - Germline - - - - - DNA SEQ - - WS - PubMed: Pingault 2010 - M yes - - - - - - 1 Veronique Pingault
-?/. 5 c.891C>T r.(?) p.(Thr297=) Unknown - likely benign g.78475253G>A g.77901118G>A EDNRB(NM_001201397.1):c.1161C>T (p.T387=) - EDNRB_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.914G>A r.(?) p.(Ser305Asn) Unknown - likely benign g.78475230C>T g.77901095C>T EDNRB(NM_001201397.1):c.1184G>A (p.S395N) - EDNRB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/-? 5 c.914G>A r.(?) p.(Ser305Asn) Unknown - likely pathogenic g.78475230C>T g.77901095C>T S305N - EDNRB_000023 rsinitialy referred as a disease-causing variant PubMed: Auricchio 1996 - rs5352 Germline - - - - - DNA SSCA, SEQ - - HSCR - PubMed: Auricchio 1996 - - - Italy - - - - - 1 Veronique Pingault
?/. 5 c.918C>T r.(?) p.(Gly306=) Unknown - VUS g.78475226G>A g.77901091G>A - - EDNRB_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.928G>A r.(?) p.(Ala310Thr) Parent #1 - pathogenic g.78475216C>T g.77901081C>T - - EDNRB_000086 - MORL Deafness Variation Database, PubMed: Sakai 2000 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Sakai 2000 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? 5i c.952-14T>C r.(=) p.(=) Parent #1 - likely pathogenic g.78474803A>G g.77900668A>G - - EDNRB_000085 - MORL Deafness Variation Database, PubMed: Garcia-Barceló 2004 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Garcia-Barceló 2004 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 6 c.955C>T r.(?) p.(Arg319Trp) Parent #1 - pathogenic g.78474786G>A g.77900651G>A - - EDNRB_000084 - MORL Deafness Variation Database, PubMed: Amiel 1996 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Amiel 1996 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.955C>T r.(?) p.(Arg319Trp) Unknown - likely pathogenic g.78474786G>A - - - EDNRB_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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