Full data view for gene WFS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006005.3 transcript reference sequence.

864 entries on 9 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.2T>A r.(?) p.(Met1?) Unknown - VUS g.6279184T>A g.6277457T>A WFS1(NM_006005.3):c.2T>A (p.M1?) - WFS1_000390 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9C>T r.(?) p.(Ser3=) Unknown - benign g.6279191C>T - WFS1(NM_001145853.1):c.9C>T (p.(=)) - WFS1_000835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20C>T r.(?) p.(Pro7Leu) Unknown - VUS g.6279202C>T g.6277475C>T - - WFS1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21G>T r.(?) p.(Pro7=) Unknown - likely benign g.6279203G>T g.6277476G>T WFS1(NM_001145853.1):c.21G>T (p.(=)) - WFS1_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23T>C r.(?) p.(Leu8Pro) Unknown - likely benign g.6279205T>C g.6277478T>C WFS1(NM_006005.3):c.23T>C (p.L8P) - WFS1_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41A>G r.(?) p.(Gln14Arg) Unknown - likely benign g.6279223A>G g.6277496A>G WFS1(NM_001145853.1):c.41A>G (p.(Gln14Arg)), WFS1(NM_006005.3):c.41A>G (p.Q14R) - WFS1_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41A>G r.(?) p.(Gln14Arg) Unknown - likely benign g.6279223A>G - WFS1(NM_001145853.1):c.41A>G (p.(Gln14Arg)), WFS1(NM_006005.3):c.41A>G (p.Q14R) - WFS1_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.43C>T r.(?) p.(Pro15Ser) Unknown - likely benign g.6279225C>T g.6277498C>T WFS1(NM_006005.3):c.43C>T (p.(Pro15Ser)) - WFS1_000395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47C>T r.(?) p.(Pro16Leu) Unknown - likely benign g.6279229C>T g.6277502C>T WFS1(NM_001145853.1):c.47C>T (p.(Pro16Leu)), WFS1(NM_006005.3):c.47C>T (p.P16L) - WFS1_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.47C>T r.(?) p.(Pro16Leu) Unknown - likely benign g.6279229C>T - WFS1(NM_001145853.1):c.47C>T (p.(Pro16Leu)), WFS1(NM_006005.3):c.47C>T (p.P16L) - WFS1_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61C>A r.(?) p.(Pro21Thr) Unknown - likely benign g.6279243C>A g.6277516C>A WFS1(NM_006005.3):c.61C>A (p.P21T) - WFS1_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68C>G r.(?) p.(Ala23Gly) Unknown - VUS g.6279250C>G - WFS1(NM_006005.3):c.68C>G (p.A23G) - WFS1_000804 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69G>A r.(?) p.(Ala23=) Unknown - likely benign g.6279251G>A - WFS1(NM_006005.3):c.69G>A (p.A23=) - WFS1_000836 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77G>A r.(?) p.(Arg26Gln) Unknown - likely benign g.6279259G>A - WFS1(NM_006005.3):c.77G>A (p.R26Q) - WFS1_000837 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.83A>G r.(?) p.(Asn28Ser) Parent #1 - VUS g.6279265A>G g.6277538A>G - - WFS1_000515 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 2 c.95C>T r.(?) p.(Ser32Leu) Parent #1 - VUS g.6279277C>T g.6277550C>T - - WFS1_000516 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.96G>A r.(?) p.(Ser32=) Unknown - likely benign g.6279278G>A g.6277551G>A WFS1(NM_006005.3):c.96G>A (p.S32=) - WFS1_000791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96G>A r.(?) p.(Ser32=) Unknown - benign g.6279278G>A - WFS1(NM_006005.3):c.96G>A (p.S32=) - WFS1_000791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(Ser38=) Unknown - likely benign g.6279296C>T g.6277569C>T WFS1(NM_001145853.1):c.114C>T (p.(=)) - WFS1_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - pathogenic g.6279306C>T g.6277579C>T WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - VUS g.6279306C>T g.6277579C>T WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.124C>T r.(?) p.(Arg42*) Parent #1 - VUS g.6279306C>T g.6277579C>T - - WFS1_000345 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Franks 2008, PubMed: Sandhu 2007, PubMed: Ohata 1998, PubMed: Duzkale 2013, PubMed: Fawcett 2010 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Tranebjærg 1993, PubMed: Franks 2008, PubMed: Sandhu 2007, PubMed: Ohata 1998, PubMed: Duzkale 2013, PubMed: Fawcett 2010 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.124C>T r.(?) p.(Arg42*) Parent #1 - likely pathogenic g.6279306C>T g.6277579C>T - - WFS1_000345 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs71530923 Germline - 4/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
+/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - pathogenic g.6279306C>T g.6277579C>T WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.124C>T r.(?) p.(Arg42Ter) Unknown - pathogenic g.6279306C>T - WFS1(NM_001145853.1):c.124C>T (p.(Arg42*)), WFS1(NM_006005.3):c.124C>T (p.R42*) - WFS1_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.128C>T r.(?) p.(Ala43Val) Parent #1 - likely benign g.6279310C>T g.6277583C>T - - WFS1_000517 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.129A>T r.(?) p.(Ala43=) Unknown - likely benign g.6279311A>T g.6277584A>T WFS1(NM_001145853.1):c.129A>T (p.(Ala43=)), WFS1(NM_006005.3):c.129A>T (p.A43=) - WFS1_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.129A>T r.(?) p.(Ala43=) Unknown - likely benign g.6279311A>T - WFS1(NM_001145853.1):c.129A>T (p.(Ala43=)), WFS1(NM_006005.3):c.129A>T (p.A43=) - WFS1_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 2 c.143C>T r.(?) p.(Ala48Val) Parent #1 - likely benign g.6279325C>T g.6277598C>T - - WFS1_000518 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.154C>A r.(?) p.(Pro52Thr) Unknown - likely benign g.6279336C>A g.6277609C>A WFS1(NM_006005.3):c.154C>A (p.P52T) - WFS1_000501 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.173C>T r.(?) p.(Ala58Val) Parent #1 - pathogenic g.6279355C>T g.6277628C>T - - WFS1_000519 - MORL Deafness Variation Database, PubMed: Gómez-Zaera 2001 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Gómez-Zaera 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.173C>T r.(?) p.(Ala58Val) Unknown - VUS g.6279355C>T - WFS1(NM_001145853.1):c.173C>T (p.(Ala58Val)), WFS1(NM_006005.3):c.173C>T (p.A58V) - WFS1_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.173C>T r.(?) p.(Ala58Val) Unknown - VUS g.6279355C>T - WFS1(NM_001145853.1):c.173C>T (p.(Ala58Val)), WFS1(NM_006005.3):c.173C>T (p.A58V) - WFS1_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189C>T r.(?) p.(Pro63=) Unknown - likely benign g.6279371C>T - WFS1(NM_001145853.1):c.189C>T (p.(=)) - WFS1_000838 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.225C>T r.(?) p.(Asp75=) Unknown - benign g.6279407C>T g.6277680C>T WFS1(NM_001145853.1):c.225C>T (p.(Asp75=)), WFS1(NM_006005.3):c.225C>T (p.D75=) - WFS1_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225C>T r.(?) p.(Asp75=) Unknown - likely benign g.6279407C>T - WFS1(NM_001145853.1):c.225C>T (p.(Asp75=)), WFS1(NM_006005.3):c.225C>T (p.D75=) - WFS1_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.227G>T r.(?) p.(Gly76Val) Unknown - likely benign g.6279409G>T - WFS1(NM_001145853.1):c.227G>T (p.(Gly76Val)) - WFS1_000839 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231C>T r.(?) p.(Thr77=) Unknown - likely benign g.6279413C>T - WFS1(NM_006005.3):c.231C>T (p.T77=) - WFS1_000840 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.233-3592C>G r.(?) p.(=) Both (homozygous) - likely benign g.6285228C>G g.6283501C>G - - WFS1_000271 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.233-5T>A r.(?) p.? Unknown ACMG VUS g.6288815T>A g.6287088T>A - - WFS1_000389 - - - - Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
+?/. - c.292G>A r.(?) p.(Gly98Arg) Unknown - likely pathogenic g.6288879G>A - WFS1(NM_001145853.1):c.292G>A (p.(Gly98Arg)) - WFS1_000841 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.307C>T r.(?) p.(Gln103*) Parent #1 - pathogenic g.6288894C>T g.6287167C>T - - WFS1_000520 - MORL Deafness Variation Database, PubMed: Chaussenot 2011, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Chaussenot 2011, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.319G>C r.(?) p.(Gly107Arg) Parent #1 - pathogenic g.6290717G>C g.6288990G>C - - WFS1_000521 - MORL Deafness Variation Database, PubMed: Rigoli 2013 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Rigoli 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.320G>A r.(?) p.(Gly107Glu) Parent #1 - pathogenic g.6290718G>A g.6288991G>A - - WFS1_000522 - MORL Deafness Variation Database, PubMed: Zalloua 2008 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Zalloua 2008 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.325C>T r.(?) p.(His109Tyr) Unknown - likely benign g.6290723C>T g.6288996C>T WFS1(NM_006005.3):c.325C>T (p.H109Y) - WFS1_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.325C>T r.(?) p.(His109Tyr) Parent #1 - VUS g.6290723C>T g.6288996C>T - - WFS1_000281 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.328T>A r.(?) p.(Tyr110Asn) Parent #1 - pathogenic g.6290726T>A g.6288999T>A - - WFS1_000523 - MORL Deafness Variation Database, PubMed: Giuliano 2005 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Giuliano 2005 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.343G>A r.(?) p.(Gly115Ser) Unknown - likely benign g.6290741G>A g.6289014G>A WFS1(NM_006005.3):c.343G>A (p.G115S) - WFS1_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.343G>A r.(?) p.(Gly115Ser) Unknown - likely benign g.6290741G>A g.6289014G>A WFS1(NM_006005.3):c.343G>A (p.G115S) - WFS1_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.350C>T r.(?) p.(Thr117Met) Unknown - benign g.6290748C>T g.6289021C>T WFS1(NM_001145853.1):c.350C>T (p.(Thr117Met)), WFS1(NM_006005.3):c.350C>T (p.T117M) - WFS1_000400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350C>T r.(?) p.(Thr117Met) Unknown - likely benign g.6290748C>T g.6289021C>T WFS1(NM_001145853.1):c.350C>T (p.(Thr117Met)), WFS1(NM_006005.3):c.350C>T (p.T117M) - WFS1_000400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.353A>C r.(?) p.(Asp118Ala) Unknown - benign g.6290751A>C g.6289024A>C WFS1(NM_001145853.1):c.353A>C (p.(Asp118Ala)), WFS1(NM_006005.3):c.353A>C (p.D118A) - WFS1_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.353A>C r.(?) p.(Asp118Ala) Unknown - likely benign g.6290751A>C g.6289024A>C WFS1(NM_001145853.1):c.353A>C (p.(Asp118Ala)), WFS1(NM_006005.3):c.353A>C (p.D118A) - WFS1_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363C>T r.(?) p.(Leu121=) Unknown - likely benign g.6290761C>T g.6289034C>T WFS1(NM_006005.3):c.363C>T (p.L121=) - WFS1_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.376G>A r.(?) p.(Ala126Thr) Unknown - pathogenic g.6290774G>A g.6289047G>A - - WFS1_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.376G>A r.(?) p.(Ala126Thr) Parent #1 - pathogenic g.6290774G>A g.6289047G>A - - WFS1_000402 - MORL Deafness Variation Database, PubMed: Khanim 2001 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Khanim 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 4 c.387G>A r.(?) p.(Trp129*) Parent #1 - pathogenic g.6290785G>A g.6289058G>A - - WFS1_000524 - MORL Deafness Variation Database, PubMed: Smith 2004, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Smith 2004, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 4 c.392T>G r.(?) p.(Val131Gly) Unknown - VUS g.6290790T>G g.6289063T>G T392G - WFS1_000818 - PubMed: Katagiri 2014 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease RP#001 PubMed: Katagiri 2014 family - - Japan - - 0 - - 1 LOVD
?/. 4 c.392T>G r.(?) p.(Val131Gly) Unknown - VUS g.6290790T>G g.6289063T>G T392G - WFS1_000818 - PubMed: Katagiri 2014 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease RP#012 PubMed: Katagiri 2014 family - - Japan - - 0 - - 1 LOVD
?/. 4 c.392T>G r.(?) p.(Val131Gly) Unknown - VUS g.6290790T>G g.6289063T>G T392G - WFS1_000818 - PubMed: Katagiri 2014 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease RP#025 PubMed: Katagiri 2014 family - - Japan - - 0 - - 1 LOVD
+/+ 4 c.397G>A r.(?) p.(Ala133Thr) Parent #1 - pathogenic g.6290795G>A g.6289068G>A - - WFS1_000525 - MORL Deafness Variation Database, PubMed: Khanim 2001 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Khanim 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.402G>A r.(?) p.(Ala134=) Unknown - likely benign g.6290800G>A g.6289073G>A WFS1(NM_001145853.1):c.402G>A (p.(Ala134=)), WFS1(NM_006005.3):c.402G>A (p.A134=) - WFS1_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.402G>A r.(?) p.(Ala134=) Unknown - likely benign g.6290800G>A g.6289073G>A WFS1(NM_001145853.1):c.402G>A (p.(Ala134=)), WFS1(NM_006005.3):c.402G>A (p.A134=) - WFS1_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.406C>T r.(?) p.(Gln136*) Parent #1 - pathogenic g.6290804C>T g.6289077C>T - - WFS1_000526 - MORL Deafness Variation Database, PubMed: Hardy 1999, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Hardy 1999, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.409_424dup r.(?) p.(Val142GlyfsTer110) Unknown - pathogenic g.6290807_6290822dup g.6289080_6289095dup WFS1(NM_006005.3):c.409_424dupGGCCGTCGCGAGGCTG (p.V142Gfs*110) - WFS1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.409_424dup r.(?) p.(Val142Glyfs*110) Parent #1 - pathogenic g.6290807_6290822dup g.6289080_6289095dup - - WFS1_000403 - MORL Deafness Variation Database, PubMed: Gómez-Zaera 2001 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Gómez-Zaera 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.409_424dup r.(?) p.(Val142GlyfsTer110) Both (homozygous) - likely pathogenic g.6290807_6290822dup g.6289080_6289095dup WFS1 c.409_424dup16; c.409_424dup16 - WFS1_000403 no protein change given, homozygous PubMed: Zanolli 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood targeted sequencing retinal disease 81 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - 0 - - 1 LOVD
?/. - c.415C>T r.(?) p.(Arg139Cys) Unknown - VUS g.6290813C>T - WFS1(NM_006005.3):c.415C>T (p.(Arg139Cys)) - WFS1_000842 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>G r.(?) p.(Arg139=) Unknown - likely benign g.6290815C>G - WFS1(NM_001145853.1):c.417C>G (p.(Arg139=)), WFS1(NM_006005.3):c.417C>G (p.R139=) - WFS1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>G r.(?) p.(Arg139=) Unknown - likely benign g.6290815C>G - WFS1(NM_001145853.1):c.417C>G (p.(Arg139=)), WFS1(NM_006005.3):c.417C>G (p.R139=) - WFS1_000805 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418G>A r.(?) p.(Glu140Lys) Unknown - VUS g.6290816G>A g.6289089G>A WFS1(NM_001145853.1):c.418G>A (p.(Glu140Lys)) - WFS1_000404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418G>A r.(?) p.(Glu140Lys) Unknown - VUS g.6290816G>A - WFS1(NM_001145853.1):c.418G>A (p.(Glu140Lys)) - WFS1_000404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.439del r.(?) p.(Arg147Glyfs*17) Parent #1 - pathogenic g.6290837del g.6289110del - - WFS1_000527 - MORL Deafness Variation Database, PubMed: Marshall 2013 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Marshall 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.449C>T r.(?) p.(Ala150Val) Unknown - likely benign g.6290847C>T - WFS1(NM_001145853.1):c.449C>T (p.(Ala150Val)) - WFS1_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.460+1G>A r.spl? p.? Unknown - pathogenic g.6290859G>A g.6289132G>A - - WFS1_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4i c.460+1G>A r.spl? p.? Parent #1 - pathogenic g.6290859G>A g.6289132G>A - - WFS1_000346 - MORL Deafness Variation Database, PubMed: Strom 1998 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Strom 1998 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.461-15C>T r.(=) p.(=) Unknown - benign g.6292909C>T g.6291182C>T WFS1(NM_006005.3):c.461-15C>T - WFS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.461-15C>T r.(=) p.(=) Unknown - benign g.6292909C>T g.6291182C>T WFS1(NM_006005.3):c.461-15C>T - WFS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.461-15C>T r.(=) p.(=) Unknown - benign g.6292909C>T g.6291182C>T WFS1(NM_006005.3):c.461-15C>T - WFS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.461-9A>G r.(=) p.(=) Unknown - benign g.6292915A>G g.6291188A>G WFS1(NM_006005.3):c.461-9A>G - WFS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.461-9A>G r.(=) p.(=) Unknown - benign g.6292915A>G g.6291188A>G WFS1(NM_006005.3):c.461-9A>G - WFS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.461-9A>G r.(=) p.(=) Unknown - benign g.6292915A>G g.6291188A>G WFS1(NM_006005.3):c.461-9A>G - WFS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.461-9A>G r.(=) p.(=) Unknown - benign g.6292915A>G g.6291188A>G WFS1(NM_006005.3):c.461-9A>G - WFS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461-7C>A r.(=) p.(=) Unknown - likely benign g.6292917C>A g.6291190C>A WFS1(NM_006005.3):c.461-7C>A - WFS1_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.467C>T r.(?) p.(Thr156Met) Parent #1 - pathogenic g.6292930C>T g.6291203C>T - - WFS1_000528 - MORL Deafness Variation Database, PubMed: Chaussenot 2011 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Chaussenot 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 5 c.472G>A r.(?) p.(Glu158Lys) Parent #1 - pathogenic g.6292935G>A g.6291208G>A - - WFS1_000529 - MORL Deafness Variation Database, PubMed: Gasparin 2009 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Gasparin 2009 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.482G>A r.(?) p.(Arg161Gln) Unknown - likely benign g.6292945G>A g.6291218G>A WFS1(NM_001145853.1):c.482G>A (p.(Arg161Gln)), WFS1(NM_006005.3):c.482G>A (p.R161Q) - WFS1_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482G>A r.(?) p.(Arg161Gln) Unknown - likely benign g.6292945G>A g.6291218G>A WFS1(NM_001145853.1):c.482G>A (p.(Arg161Gln)), WFS1(NM_006005.3):c.482G>A (p.R161Q) - WFS1_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482G>A r.(?) p.(Arg161Gln) Unknown - likely benign g.6292945G>A - WFS1(NM_001145853.1):c.482G>A (p.(Arg161Gln)), WFS1(NM_006005.3):c.482G>A (p.R161Q) - WFS1_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500C>T r.(?) p.(Ser167Phe) Unknown - VUS g.6292963C>T g.6291236C>T - - WFS1_000407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504C>A r.(?) p.(Ser168=) Unknown - likely benign g.6292967C>A g.6291240C>A WFS1(NM_001145853.1):c.504C>A (p.(=)) - WFS1_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504C>T r.(?) p.(Ser168=) Unknown - likely benign g.6292967C>T g.6291240C>T WFS1(NM_006005.3):c.504C>T (p.S168=) - WFS1_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505G>A r.(?) p.(Glu169Lys) Unknown - VUS g.6292968G>A - WFS1(NM_006005.3):c.505G>A (p.E169K) - WFS1_000844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>G r.(?) p.(Thr170=) Unknown - likely benign g.6292973C>G g.6291246C>G WFS1(NM_006005.3):c.510C>G (p.T170=) - WFS1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.511G>A r.(?) p.(Asp171Asn) Parent #1 - pathogenic g.6292974G>A g.6291247G>A - - WFS1_000530 - MORL Deafness Variation Database, PubMed: Gonçalves 2014 - - SUMMARY record - - - 0 - DNA ? - - HL - PubMed: Gonçalves 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.517G>T r.(?) p.(Glu173Ter) Unknown - pathogenic g.6292980G>T g.6291253G>T - - WFS1_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.530G>C r.(?) p.(Arg177Pro) Parent #1 - pathogenic g.6292993G>C g.6291266G>C - - WFS1_000531 - MORL Deafness Variation Database, PubMed: Zenteno 2008 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Zenteno 2008 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 5 c.532_537del r.(?) p.(Lys178_Ala179del) Parent #1 - pathogenic g.6292995_6293000del g.6291268_6291273del - - WFS1_000532 - MORL Deafness Variation Database, PubMed: Lombardo 2014 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Lombardo 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 5 c.533_538del r.(?) p.(Lys178_Ala180delinsThr) Parent #1 - pathogenic g.6292996_6293001del g.6291269_6291274del - - WFS1_000533 - MORL Deafness Variation Database, PubMed: Colosimo 2003 - - SUMMARY record - - - 0 - DNA ? - - WFS - PubMed: Colosimo 2003 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.541C>T r.(?) p.(Leu181=) Unknown - likely benign g.6293004C>T - WFS1(NM_001145853.1):c.541C>T (p.(=)) - WFS1_000845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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