Unique variants in the WFS1 gene

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.

635 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.2T>A r.(?) p.(Met1?) - 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 - - - - - VKGL-NL_AMC
-/. 1 - c.9C>T r.(?) p.(Ser3=) - benign g.6279191C>T - WFS1(NM_001145853.1):c.9C>T (p.(Ser3=)) - WFS1_000835 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.20C>T r.(?) p.(Pro7Leu) - VUS g.6279202C>T g.6277475C>T - - WFS1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.21G>T r.(?) p.(Pro7=) - likely benign g.6279203G>T g.6277476G>T WFS1(NM_001145853.1):c.21G>T (p.(Pro7=)) - WFS1_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.23T>C r.(?) p.(Leu8Pro) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.41A>G r.(?) p.(Gln14Arg) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.43C>T r.(?) p.(Pro15Ser) - likely benign g.6279225C>T g.6277498C>T WFS1(NM_001145853.1):c.43C>T (p.(Pro15Ser)) - WFS1_000395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.47C>T r.(?) p.(Pro16Leu) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.56C>T r.(?) p.(Pro19Leu) - likely benign, VUS g.6279238C>T - WFS1(NM_001145853.1):c.56C>T (p.(Pro19Leu)), WFS1(NM_006005.3):c.56C>T (p.P19L) - WFS1_000896 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.61C>A r.(?) p.(Pro21Thr) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.68C>G r.(?) p.(Ala23Gly) - VUS g.6279250C>G - WFS1(NM_006005.3):c.68C>G (p.A23G) - WFS1_000804 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.69G>A r.(?) p.(Ala23=) - likely benign g.6279251G>A - WFS1(NM_006005.3):c.69G>A (p.A23=) - WFS1_000836 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.77G>A r.(?) p.(Arg26Gln) - likely benign g.6279259G>A - WFS1(NM_006005.3):c.77G>A (p.R26Q) - WFS1_000837 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 2 c.83A>G r.(?) p.(Asn28Ser) - VUS g.6279265A>G g.6277538A>G - - WFS1_000515 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 1 2 c.95C>T r.(?) p.(Ser32Leu) - VUS g.6279277C>T g.6277550C>T - - WFS1_000516 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/., -?/. 2 - c.96G>A r.(?) p.(Ser32=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.111G>A r.(?) p.(Arg37=) - likely benign g.6279293G>A - WFS1(NM_001145853.1):c.111G>A (p.(=)) - WFS1_000897 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.114C>T r.(?) p.(Ser38=) - likely benign g.6279296C>T g.6277569C>T WFS1(NM_001145853.1):c.114C>T (p.(Ser38=)) - WFS1_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +?/., ?/., ?/? 6 2 c.124C>T r.(?) p.(Arg42*), p.(Arg42Ter) - likely pathogenic, pathogenic, 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 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs71530923 CLASSIFICATION record, Germline, SUMMARY record - 4/2794 individuals - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Mohammed Faruq
-?/-? 1 2 c.128C>T r.(?) p.(Ala43Val) - likely benign g.6279310C>T g.6277583C>T - - WFS1_000517 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 2 - c.129A>T r.(?) p.(Ala43=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/-? 1 2 c.143C>T r.(?) p.(Ala48Val) - likely benign g.6279325C>T g.6277598C>T - - WFS1_000518 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 2 - c.154C>A r.(?) p.(Pro52Thr) - likely benign g.6279336C>A g.6277609C>A WFS1(NM_001145853.1):c.154C>A (p.(Pro52Thr)), WFS1(NM_006005.3):c.154C>A (p.P52T) - WFS1_000501 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+, ?/. 3 2 c.173C>T r.(?) p.(Ala58Val) - pathogenic, VUS g.6279355C>T g.6277628C>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 MORL Deafness Variation Database, PubMed: Gómez-Zaera 2001 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.180C>T r.(?) p.(Pro60=) - likely benign g.6279362C>T - WFS1(NM_001145853.1):c.180C>T (p.(=)) - WFS1_000898 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.189C>T r.(?) p.(Pro63=) - likely benign g.6279371C>T - WFS1(NM_001145853.1):c.189C>T (p.(Pro63=)) - WFS1_000838 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.225C>T r.(?) p.(Asp75=) - benign, likely 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 - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.227G>T r.(?) p.(Gly76Val) - likely benign g.6279409G>T - WFS1(NM_001145853.1):c.227G>T (p.(Gly76Val)) - WFS1_000839 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.231C>T r.(?) p.(Thr77=) - likely benign g.6279413C>T - WFS1(NM_006005.3):c.231C>T (p.T77=) - WFS1_000840 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2i c.233-3592C>G r.(?) p.(=) - likely benign g.6285228C>G g.6283501C>G - - WFS1_000271 - - - - Germline - - - - - Yu Sun
?/. 1 - c.233-5T>A r.(?) p.? ACMG VUS g.6288815T>A g.6287088T>A - - WFS1_000389 - - - - Germline - - - - - Andreas Laner
+?/. 1 - c.292G>A r.(?) p.(Gly98Arg) - likely pathogenic g.6288879G>A - WFS1(NM_001145853.1):c.292G>A (p.(Gly98Arg)) - WFS1_000841 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 3 c.307C>T r.(?) p.(Gln103*) - pathogenic g.6288894C>T g.6287167C>T - - WFS1_000520 - MORL Deafness Variation Database, PubMed: Chaussenot 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.319G>C r.(?) p.(Gly107Arg) - pathogenic g.6290717G>C g.6288990G>C - - WFS1_000521 - MORL Deafness Variation Database, PubMed: Rigoli 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.320G>A r.(?) p.(Gly107Glu) - pathogenic g.6290718G>A g.6288991G>A - - WFS1_000522 - MORL Deafness Variation Database, PubMed: Zalloua 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/., ?/., ?/? 3 4 c.325C>T r.(?) p.(His109Tyr) - likely benign, VUS g.6290723C>T g.6288996C>T WFS1(NM_006005.3):c.325C>T (p.H109Y) - WFS1_000281 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+ 1 4 c.328T>A r.(?) p.(Tyr110Asn) - pathogenic g.6290726T>A g.6288999T>A - - WFS1_000523 - MORL Deafness Variation Database, PubMed: Giuliano 2005 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+?/. 1 - c.334C>T r.(?) p.(Gln112*) - likely pathogenic g.6290732C>T - WFS1(NM_001145853.1):c.334C>T (p.(Gln112*)) - WFS1_000899 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.343G>A r.(?) p.(Gly115Ser) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 2 - c.350C>T r.(?) p.(Thr117Met) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 2 - c.353A>C r.(?) p.(Asp118Ala) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.363C>T r.(?) p.(Leu121=) - 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 - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 4 c.376G>A r.(?) p.(Ala126Thr) - pathogenic g.6290774G>A g.6289047G>A - - WFS1_000402 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Khanim 2001 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
+/+ 1 4 c.387G>A r.(?) p.(Trp129*) - pathogenic g.6290785G>A g.6289058G>A - - WFS1_000524 - MORL Deafness Variation Database, PubMed: Smith 2004, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 3 4 c.392T>G r.(?) p.(Val131Gly) - VUS g.6290790T>G g.6289063T>G T392G - WFS1_000818 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
+/+ 1 4 c.397G>A r.(?) p.(Ala133Thr) - pathogenic g.6290795G>A g.6289068G>A - - WFS1_000525 - MORL Deafness Variation Database, PubMed: Khanim 2001 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 2 - c.402G>A r.(?) p.(Ala134=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+ 1 4 c.406C>T r.(?) p.(Gln136*) - pathogenic g.6290804C>T g.6289077C>T - - WFS1_000526 - MORL Deafness Variation Database, PubMed: Hardy 1999, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/., +?/. 3 4 c.409_424dup r.(?) p.(Val142Glyfs*110), p.(Val142GlyfsTer110) - likely pathogenic, pathogenic g.6290807_6290822dup g.6289080_6289095dup WFS1 c.409_424dup16; c.409_424dup16, WFS1(NM_006005.3):c.409_424dupGGCCGTCGCGAGGCTG (p.V142Gfs*110) - WFS1_000403 no protein change given, homozygous, VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Gómez-Zaera 2001, PubMed: Zanolli 2020 - - CLASSIFICATION record, SUMMARY record, Unknown ? - - - - Global Variome, with Curator vacancy, VKGL-NL_Rotterdam
?/. 1 - c.415C>T r.(?) p.(Arg139Cys) - VUS g.6290813C>T - WFS1(NM_001145853.1):c.415C>T (p.(Arg139Cys)) - WFS1_000842 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.417C>G r.(?) p.(Arg139=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.418G>A r.(?) p.(Glu140Lys) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/+ 1 4 c.439del r.(?) p.(Arg147Glyfs*17) - pathogenic g.6290837del g.6289110del - - WFS1_000527 - MORL Deafness Variation Database, PubMed: Marshall 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.449C>T r.(?) p.(Ala150Val) - likely benign g.6290847C>T - WFS1(NM_001145853.1):c.449C>T (p.(Ala150Val)) - WFS1_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, +/. 2 4i c.460+1G>A r.spl? p.? - pathogenic g.6290859G>A g.6289132G>A - - WFS1_000346 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Strom 1998 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
-/. 3 - c.461-15C>T r.(=) p.(=) - benign g.6292909C>T g.6291182C>T WFS1(NM_006005.3):c.461-15C>T - WFS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 4 - c.461-9A>G r.(=) p.(=) - benign g.6292915A>G g.6291188A>G WFS1(NM_006005.3):c.461-9A>G - WFS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.461-7C>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.467C>T r.(?) p.(Thr156Met) - pathogenic g.6292930C>T g.6291203C>T - - WFS1_000528 - MORL Deafness Variation Database, PubMed: Chaussenot 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 5 c.472G>A r.(?) p.(Glu158Lys) - pathogenic g.6292935G>A g.6291208G>A - - WFS1_000529 - MORL Deafness Variation Database, PubMed: Gasparin 2009 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 3 - c.482G>A r.(?) p.(Arg161Gln) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.500C>T r.(?) p.(Ser167Phe) - VUS g.6292963C>T g.6291236C>T - - WFS1_000407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.504C>A r.(?) p.(Ser168=) - likely benign g.6292967C>A g.6291240C>A WFS1(NM_001145853.1):c.504C>A (p.(Ser168=)) - WFS1_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.504C>T r.(?) p.(Ser168=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.505G>A r.(?) p.(Glu169Lys) - VUS g.6292968G>A - WFS1(NM_006005.3):c.505G>A (p.E169K) - WFS1_000844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.510C>G r.(?) p.(Thr170=) - 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 - - - - - VKGL-NL_Rotterdam
+/+, ?/. 2 5 c.511G>A r.(?) p.(Asp171Asn) - pathogenic, VUS g.6292974G>A g.6291247G>A WFS1(NM_001145853.1):c.511G>A (p.(Asp171Asn)) - WFS1_000530 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Gonçalves 2014 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden
+/. 1 - c.517G>T r.(?) p.(Glu173Ter) - pathogenic g.6292980G>T g.6291253G>T - - WFS1_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 5 c.530G>C r.(?) p.(Arg177Pro) - pathogenic g.6292993G>C g.6291266G>C - - WFS1_000531 - MORL Deafness Variation Database, PubMed: Zenteno 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 5 c.532_537del r.(?) p.(Lys178_Ala179del) - pathogenic g.6292995_6293000del g.6291268_6291273del - - WFS1_000532 - MORL Deafness Variation Database, PubMed: Lombardo 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 5 c.533_538del r.(?) p.(Lys178_Ala180delinsThr) - pathogenic g.6292996_6293001del g.6291269_6291274del - - WFS1_000533 - MORL Deafness Variation Database, PubMed: Colosimo 2003 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.541C>T r.(?) p.(Leu181=) - likely benign g.6293004C>T - WFS1(NM_001145853.1):c.541C>T (p.(Leu181=)) - WFS1_000845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.558G>C r.(?) p.(Lys186Asn) - VUS g.6293021G>C g.6291294G>C - - WFS1_000410 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 5 c.563A>G r.(?) p.(Asn188Ser) - pathogenic g.6293026A>G g.6291299A>G - - WFS1_000534 - MORL Deafness Variation Database, PubMed: Matsunaga 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.573G>T r.(?) p.(Lys191Asn) - likely benign g.6293036G>T - WFS1(NM_001145853.1):c.573G>T (p.(Lys191Asn)) - WFS1_000900 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 5 c.574A>C r.(?) p.(Lys192Gln) - VUS g.6293037A>C g.6291310A>C - - WFS1_000275 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Manou Sommen
-/., -?/. 6 - c.577A>C r.(?) p.(Lys193Gln) - benign, likely benign g.6293040A>C g.6291313A>C WFS1(NM_001145853.1):c.577A>C (p.(Lys193Gln)), WFS1(NM_006005.3):c.577A>C (p.K193Q) - WFS1_000286 62 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Razmara 2018 - rs41264699 CLASSIFICATION record, Germline - 62/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, Ehsan Razmara, Mohammed Faruq
+/+ 1 5 c.577_579del r.(?) p.(Lys193del) - pathogenic g.6293040_6293042del g.6291313_6291315del - - WFS1_000535 - MORL Deafness Variation Database, PubMed: Matsunaga 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 5 c.580C>T r.(?) p.(Gln194*) - pathogenic g.6293043C>T g.6291316C>T - - WFS1_000536 - MORL Deafness Variation Database, PubMed: Hansen 2005, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.594G>A r.(?) p.(Ala198=) - likely benign g.6293057G>A - WFS1(NM_001145853.1):c.594G>A (p.(=)) - WFS1_000901 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 5 c.599del r.(?) p.(Leu200Argfs*87) - pathogenic g.6293062del g.6291335del - - WFS1_000537 - MORL Deafness Variation Database, PubMed: Strom 1998 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 5 c.599T>C r.(?) p.(Leu200Pro) - pathogenic g.6293062T>C g.6291335T>C - - WFS1_000538 - MORL Deafness Variation Database, PubMed: Marshall 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/., ?/. 3 5 c.605A>G r.(?) p.(Glu202Gly) - pathogenic, VUS g.6293068A>G g.6291341A>G WFS1(NM_001145853.1):c.605A>G (p.(Glu202Gly)) - WFS1_000411 VKGL data sharing initiative Nederland MORL Deafness Variation Database - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden, VKGL-NL_Nijmegen
-?/. 1 - c.613G>A r.(?) p.(Gly205Ser) - likely benign g.6293076G>A g.6291349G>A WFS1(NM_006005.3):c.613G>A (p.G205S) - WFS1_000412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.630C>T r.(?) p.(His210=) - likely benign g.6293093C>T g.6291366C>T WFS1(NM_006005.3):c.630C>T (p.H210=) - WFS1_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.631G>A r.(?) p.(Asp211Asn) - pathogenic g.6293094G>A g.6291367G>A - - WFS1_000539 - MORL Deafness Variation Database, PubMed: van ven Ouweland 2003 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 1 - c.631+1del r.spl? p.? ACMG likely pathogenic g.6293095del g.6291368del - - WFS1_000895 - - - - Unknown - - - - - Jinu Han
+?/. 1 - c.631+1G>A r.spl? p.? - likely pathogenic g.6293095G>A - WFS1(NM_001145853.1):c.631+1G>A (p.?) - WFS1_000846 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +?/. 2 - c.631+2T>G r.spl? p.? - likely pathogenic, pathogenic g.6293096T>G g.6291369T>G WFS1(NM_001145853.1):c.631+2T>G (p.?) - WFS1_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 - c.631+4C>T r.spl? p.? - VUS g.6293098C>T g.6291371C>T WFS1(NM_006005.3):c.631+4C>T - WFS1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.631+12C>T r.(=) p.(=) - likely benign g.6293106C>T g.6291379C>T WFS1(NM_001145853.1):c.631+12C>T (p.(=)) - WFS1_000413 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.632A>G r.(?) p.(Asp211Gly) - likely benign g.6293644A>G - WFS1(NM_001145853.1):c.632A>G (p.(Asp211Gly)) - WFS1_000847 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 6 c.639_642del r.(?) p.(Ala214Serfs*72) - pathogenic g.6293651_6293654del g.6291924_6291927del - - WFS1_000540 - MORL Deafness Variation Database, PubMed: Cano 2007 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.647C>G r.(?) p.(Pro216Arg) - likely benign g.6293659C>G g.6291932C>G WFS1(NM_006005.3):c.647C>G (p.P216R) - WFS1_000414 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 1 6 c.654C>T r.(=) p.(=) - likely benign g.6293666C>T g.6291939C>T - - WFS1_000541 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+, +/. 2 6 c.670C>T r.(?) p.(Gln224*), p.(Gln224Ter) - pathogenic g.6293682C>T g.6291955C>T - - WFS1_000348 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Khanim 2001, PubMed: Xiong 2015 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Nijmegen
+/+ 1 6 c.676C>T r.(?) p.(Gln226*) - pathogenic g.6293688C>T g.6291961C>T - - WFS1_000542 - MORL Deafness Variation Database, PubMed: Tranebjærg 1993, PubMed: Strom 1998, PubMed: Xiong 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/., ?/. 2 - c.682C>T r.(?) p.(Arg228Cys) - likely benign, VUS g.6293694C>T g.6291967C>T WFS1(NM_001145853.1):c.682C>T (p.(Arg228Cys)) - WFS1_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/+, -?/. 3 6 c.683G>A r.(?) p.(Arg228His) - likely benign, pathogenic g.6293695G>A g.6291968G>A WFS1(NM_001145853.1):c.683G>A (p.(Arg228His)), WFS1(NM_006005.3):c.683G>A (p.R228H) - WFS1_000382 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Fogel 2014 - - CLASSIFICATION record, SUMMARY record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 3 - c.684C>G r.(?) p.(Arg228=) - benign g.6293696C>G g.6291969C>G WFS1(NM_006005.3):c.684C>G (p.R228=) - WFS1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
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