Unique variants in the WRN gene

Information The variants shown are described using the NM_000553.4 transcript reference sequence.

204 entries on 3 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     
-?/. 2 - c.-213G>A r.(=) p.(=) - likely benign g.30891353G>A g.31033837G>A - - WRN_000078 119 heterozygous; Clinindb (India), 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11574158 Germline - 119/2795 individuals, 4/2795 individuals - - - Mohammed Faruq
+/. 1 1i_18i c.(-77+6980_-77+8528)_(2088+1025_2088+4222)dup r.? p.? - pathogenic (recessive) g.(30898469_30900017)_(30959496_30962693)dup g.(31040953_31042501)_(31101980_31105177)dup hg18 g.(31018011_31019559)_(31079038_31082235)dup - WRN_000115 60 Kb duplication ex2-18 PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 19i_35_ c.2273+376_*659{0} r.? p.? - pathogenic (recessive) g.30969691_31522697delinsCTCACTGCAGCCTCAAACTCCTGGGTTCAAC g.31112175_31665181delinsCTCACTGCAGCCTCAAACTCCTGGGTTCAAC hg18 g.31231718-31784724delins32 - WRN_000114 553-kb deletion from WRN to intron 1 NRG PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 24i_35_ c.2967+3316_*659{0} r.0? p.0? - pathogenic (recessive) g.30993338_31332051delinsTCT g.31135822_31474535delinsTCT - - WRN_000126 339 Kb deletion; on Western blot no WRN protein PubMed: Miller 2022 - - Germline - - - - - Johan den Dunnen
-?/. 3 - c.95A>G r.(?) p.(Lys32Arg) - likely benign g.30916058A>G g.31058542A>G WRN(NM_000553.4):c.95A>G (p.K32R, p.(Lys32Arg)), WRN(NM_000553.6):c.95A>G (p.K32R) - WRN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 3 2i c.96+26T>C r.= p.= - benign g.30916085T>C - - - WRN_000103 - PubMed: Saha 2013 - rs2737316 Germline - - - - - Johan den Dunnen
+/. 2 3 c.171C>G r.(?) p.(Tyr57*), p.(Tyr57Ter) - pathogenic, pathogenic (recessive) g.30916743C>G g.31059227C>G - - WRN_000113 no variant 2nd chromosome PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.205dup r.(205dup) p.(Ile69Asnfs*2) ACMG likely pathogenic g.30916777dup g.31059261dup 205dupA - WRN_000097 - - - - Germline - - - - - Ana Osorio
?/. 1 - c.217C>G r.(?) p.(Leu73Val) - VUS g.30921812C>G g.31064296C>G WRN(NM_000553.6):c.217C>G (p.L73V) - WRN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.326G>A r.(?) p.(Cys109Tyr) - VUS g.30921921G>A g.31064405G>A - - WRN_000079 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142346721 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.339C>T r.(?) p.(His113=) - likely benign g.30921934C>T g.31064418C>T WRN(NM_000553.4):c.339C>T (p.H113=) - WRN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.340G>A r.(?) p.(Val114Ile) - benign g.30921935G>A g.31064419G>A - - WRN_000042 VKGL data sharing initiative Nederland PubMed: Uhrhammer 2006 - - CLASSIFICATION record, Germline - 1/18 cases WRN - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 2 - c.355+4G>C r.spl? p.? - likely benign g.30921954G>C - WRN(NM_000553.4):c.355+4G>C, WRN(NM_000553.6):c.355+4G>C - WRN_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.355+20A>T r.(=) p.(=) - benign g.30921970A>T g.31064454A>T - - WRN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 4i c.356-2A>C r.356_366del, r.356_504del p.Val119Alafs*10, p.Val119GlyfsTer7 - pathogenic (recessive) g.30922429A>C g.31064913A>C - - WRN_000118 - PubMed: Huang 2006, PubMed: Friedrich 2010, PubMed: Uhrhammer 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.375A>T r.(?) p.(Lys125Asn) - pathogenic g.30922450A>T g.31064934A>T - - WRN_000134 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 5 c.403A>G r.(?) p.(Lys135Glu) - VUS g.30922478A>G g.31064962A>G - - WRN_000135 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.435G>A r.(?) p.(Trp145Ter) - pathogenic g.30922510G>A g.31064994G>A - - WRN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.452T>A r.(?) p.(Phe151Tyr) - likely benign g.30922527T>A g.31065011T>A WRN(NM_000553.4):c.452T>A (p.F151Y) - WRN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 5 c.474del r.(?) p.(Phe158LeufsTer4) - likely pathogenic, pathogenic (recessive) g.30922549del g.31065033del 474delT - WRN_000136 - PubMed: Uhrhammer 2006 - - Germline, Unknown - - - - - Johan den Dunnen, MobiDetails
+/. 1 5 c.487_489delinsC r.(?) p.(Asp163ArgfsTer4) - pathogenic (recessive) g.30922562_30922564delinsC g.31065046_31065048delinsC 487_489delGATinsC - WRN_000137 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
+/., ?/. 4 5 c.502_503del r.(?) p.(Lys168AlafsTer10) - pathogenic, pathogenic (recessive) g.30922577_30922578del g.31065061_31065062del 502_503delAA - WRN_000091 - Yuen (unpublished), PubMed: Jiang 2022, PubMed: Matsumoto 1997 - - Germline, Germline/De novo (untested) - 1/486 cases - - - Johan den Dunnen, Jeanette Yuen
+/. 1 - c.504+1G>A r.spl? p.? - pathogenic g.30922580G>A g.31065064G>A - - WRN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.505-4C>G r.spl? p.? - likely benign g.30924545C>G g.31067029C>G WRN(NM_000553.6):c.505-4C>G - WRN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 6 6 c.513C>T r.(=), r.(?), r.513c>u p.(Cys171=), p.Cys171= - benign g.30924557C>T g.31067041C>T 512T>C, 744T>C, WRN(NM_000553.6):c.513C>T (p.C171=) - WRN_000005 VKGL data sharing initiative Nederland PubMed: Castro 1999, PubMed: Saha 2013, PubMed: Uhrhammer 2006 - rs1800389 CLASSIFICATION record, Germline - 3/18 cases WRN (C>T) - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.514A>C r.(?) p.(Thr172Pro) - likely benign g.30924558A>C g.31067042A>C WRN(NM_000553.4):c.514A>C (p.T172P) - WRN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 6 c.561A>G r.557_654del p.Lys187Trpfs*13 - pathogenic, pathogenic (recessive) g.30924605A>G g.31067089A>G - - WRN_000102 no variant 2nd chromosome PubMed: Miller 2022, PubMed: Saha 2013, PubMed: Yokote 2017 - - Germline - - - - - Johan den Dunnen
./. 1 - c.604A>T r.(?) p.(Lys202*) - VUS g.30924648A>T g.31067132A>T - - WRN_000060 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
-?/. 1 - c.645T>A r.(?) p.(Thr215=) - likely benign g.30924689T>A - WRN(NM_000553.4):c.645T>A (p.T215=) - WRN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6i c.655-1G>A r.655_724del p.Ala219Argfs*9 - pathogenic (recessive) g.30925773G>A g.31068257G>A - - WRN_000138 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.684G>A r.(?) p.(Glu228=) - benign g.30925803G>A g.31068287G>A Asn228 (silent) - WRN_000139 - PubMed: Uhrhammer 2006 - - Germline - 1/18 cases WRN - - - Johan den Dunnen
-?/. 1 - c.703C>G r.(?) p.(Gln235Glu) - likely benign g.30925822C>G - WRN(NM_000553.6):c.703C>G (p.Q235E) - WRN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., ?/. 2 7 c.724G>C r.(?), r.655_724del p.(Glu242Gln), p.Ala219Argfs*9 - pathogenic (recessive), VUS g.30925843G>C g.31068327G>C - - WRN_000046 VKGL data sharing initiative Nederland PubMed: Yokote 2017 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 7i c.724+1G>T r.655_724del p.Ala219Argfs*9 - pathogenic (recessive) g.30925844G>T g.31068328G>T - - WRN_000140 - PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.742A>G r.(?) p.(Ser248Gly) - VUS g.30933706A>G g.31076190A>G - - WRN_000092 - PubMed: Jiang 2022 - - Germline/De novo (untested) - >1/309 cases - - - Johan den Dunnen
-/. 1 - c.743G>T r.(?) p.(Ser248Ile) - benign g.30933707G>T g.31076191G>T - - WRN_000141 - PubMed: Uhrhammer 2006 - - Germline - 5/18 cases WRN - - - Johan den Dunnen
?/. 1 - c.822A>G r.(?) p.(=) - VUS g.30933786A>G - WRN(NM_000553.6):c.822A>G (p.K274=) - WRN_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.839+25del r.(=), r.(?) p.(=) - benign g.30933828del g.31076312del 839+14delT, WRN(NM_000553.6):c.839+25delT - WRN_000008 VKGL data sharing initiative Nederland PubMed: Uhrhammer 2006 - - CLASSIFICATION record, Germline - 2/18 cases WRN - - - Johan den Dunnen, VKGL-NL_VUmc
-/. 1 - c.839+25dup r.(=) p.(=) - benign g.30933828dup g.31076312dup WRN(NM_000553.6):c.839+25dupT - WRN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 8i c.839+1309T>G r.(839_840ins[893+1139_893+1308;g]) p.(Arg280SerfsTer9) - pathogenic (recessive) g.30935112T>G - - - WRN_000125 effect on RNA predicted from in vitro pSPL3 exon trapping PubMed: Miller 2022 - - Germline - - - - - Johan den Dunnen
+/. 1 9 c.867_874del r.(?) p.(Glu290IlefsTer12) - pathogenic (recessive) g.30938410_30938417del g.31080894_31080901del 867_874delAGAAAATC - WRN_000142 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
-/., -?/. 4 - c.970A>G r.(?) p.(Thr324Ala) - benign, likely benign g.30938513A>G g.31080997A>G 1201A>G (T324A), WRN(NM_000553.4):c.970A>G (p.T324A), WRN(NM_000553.6):c.970A>G (p.T324A) - WRN_000009 VKGL data sharing initiative Nederland PubMed: Castro 1999, PubMed: Uhrhammer 2006 - - CLASSIFICATION record, Germline - 1/18 cases WRN - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 1 - c.979G>T r.(979g>u) p.(Gly327*) ACMG pathogenic g.30938522G>T - - - WRN_000098 - - - - Germline - - - - - Ana Osorio
+/. 1 - c.1012_1018del r.(?) p.(Val338Phefs*15) - pathogenic g.30938555_30938561del - WRN(NM_000553.6):c.1012_1018delGTTTTAA (p.V338Ffs*15) - WRN_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 55 9 c.1105C>T r.(?), r.1105c>u p.(Arg369Ter), p.Arg369* - pathogenic, pathogenic (recessive) g.30938648C>T g.31081132C>T 1335G>A, 1336G>A, mut6 1336C>T, WRN(NM_000553.6):c.1105C>T (p.R369*) - WRN_000010 no variant 2nd chromosome, VKGL data sharing initiative Nederland PubMed: Friedrich 2010, PubMed: Huang 2006, PubMed: Matsumoto 1997, PubMed: Oshima 1996, 4 more items - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 9 c.1123_1124delinsC r.(?) p.(Glu375GlnfsTer4) - pathogenic (recessive) g.30938666_30938667delinsC g.31081150_31081151delinsC 1123_1124delGAinsC - WRN_000144 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
-?/. 2 - c.1149G>T r.(?) p.(Leu383Phe) - likely benign g.30938692G>T g.31081176G>T WRN(NM_000553.4):c.1149G>T (p.L383F) - WRN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.1155G>A r.(?) p.(Glu385=) - benign g.30938698G>A - WRN(NM_000553.6):c.1155G>A (p.E385=) - WRN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., ?/. 10 9 c.1161G>A r.(?), r.1161g>a p.(Met387Ile), p.Met387Ile - benign, VUS g.30938704G>A g.31081188G>A 1392G>A, 1392G>A (M387I) - WRN_000047 VKGL data sharing initiative Nederland PubMed: Castro 1999, PubMed: Meisslitzer 1997, PubMed: Saha 2013, PubMed: Uhrhammer 2006, 1 more item - rs1800391 CLASSIFICATION record, Germline - 4/18 cases WRN - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 13 9 c.1165del r.(?), r.1165del p.(Arg389GlufsTer4), p.Arg389Glufs*4, p.Arg389GlufsTer4 - pathogenic (recessive) g.30938708del g.31081192del 1165delA, 1194-1196delA, 1396delA - WRN_000117 - PubMed: Friedrich 2010, PubMed: Huang 2006, PubMed: Meisslitzer 1997, PubMed: Muller 2005, 5 more items - - Germline - - - - - Johan den Dunnen
+/. 1 9 c.1252_1255del r.(?) p.(Ala418IlefsTer19) - pathogenic g.30938795_30938798del g.31081279_31081282del 1250_1253delTTGC - WRN_000145 no variant 2nd chromosome PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1269+4C>T r.spl? p.? - VUS g.30938816C>T g.31081300C>T WRN(NM_000553.4):c.1269+4C>T (p.?) - WRN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 9i c.1269+36A>G r.= p.= - benign g.30938848A>G - - - WRN_000129 - PubMed: Miller 2022 - - Germline - - - - - Johan den Dunnen
+/. 1 10 c.1275_1278dup r.(?) p.(Pro427IlefsTer4) - pathogenic (recessive) g.30941220_30941223dup g.31083704_31083707dup 1509_1520insATCT - WRN_000146 - PubMed: Oshima 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1290_1293del r.(?) p.(Asn430LysfsTer7) - pathogenic g.30941235_30941238del - - - WRN_000208 - - - rs1389340786 CLASSIFICATION record - - - - - MobiDetails
+/. 4 10 c.1316_1319del r.(?) p.(Glu439ValfsTer5) - pathogenic (recessive) g.30941261_30941264del g.31083745_31083748del 1316_1319delAGAG - WRN_000147 - PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
-/. 2 10i c.1350+22T>C r.= p.= - benign g.30941317T>C - - - WRN_000104 - PubMed: Saha 2013 - rs2737325 Germline - - - - - Johan den Dunnen
-?/. 1 - c.1351-5del r.spl? p.? - likely benign g.30942677del - WRN(NM_000553.4):c.1351-5delT - WRN_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 11 c.1389T>A r.(?) p.(Tyr463Ter) - pathogenic (recessive) g.30942720T>A g.31085204T>A mut9 1620T>A - WRN_000148 - PubMed: Matsumoto 1997 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1432-3C>A r.(?) p.(=) - benign g.30945289C>A g.31087773C>A 1433-3C>A - WRN_000149 incl. 1 homozygous case PubMed: Uhrhammer 2006 - - Germline - 1/18 cases WRN - - - Johan den Dunnen
+/. 1 12 c.1462G>T r.(?) p.(Glu488Ter) - pathogenic (recessive) g.30945322G>T g.31087806G>T - - WRN_000150 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
+/. 2 12 c.1486A>T r.(?) p.(Lys496Ter) - pathogenic (recessive) g.30945346A>T g.31087830A>T - - WRN_000151 - PubMed: Huang 2006, PubMed: Yokote 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 12 c.1486_1489del r.(?) p.(Lys496TrpfsTer60) - pathogenic (recessive) g.30945346_30945349del g.31087830_31087833del 1486_1489delAAAA - WRN_000152 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1504G>A r.(?) p.(Gly502Ser) - likely benign g.30945364G>A g.31087848G>A WRN(NM_000553.4):c.1504G>A (p.G502S) - WRN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1504G>C r.(?) p.(Gly502Arg) - likely benign g.30945364G>C g.31087848G>C WRN(NM_000553.6):c.1504G>C (p.G502R) - WRN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1527_1532del r.(?) p.(Glu509_Glu510del) - VUS g.30945387_30945392del g.31087871_31087876del WRN(NM_000553.4):c.1527_1532delAGAAGA (p.E509_E510del) - WRN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1530A>T r.(?) p.(Glu510Asp) - likely benign g.30945390A>T g.31087874A>T WRN(NM_000553.4):c.1530A>T (p.E510D) - WRN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1577-3C>A r.spl? p.? - benign g.30946403C>A g.31088887C>A - - WRN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 13 c.1578del r.(?) p.(Leu528CysfsTer29) - pathogenic (recessive) g.30946407del g.31088891del 1578delC - WRN_000153 - PubMed: Yokote 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 13 c.1586G>A r.(?) p.(Trp529Ter) - pathogenic (recessive) g.30946415G>A g.31088899G>A - - WRN_000154 - PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1652+1G>A r.spl? p.? - pathogenic g.30946482G>A g.31088966G>A - - WRN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 14 c.1674_1677del r.(?) p.(His558GlnfsTer3) - pathogenic (recessive) g.30948002_30948005del g.31090486_31090489del 1674_1677delTTCA - WRN_000155 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1706C>T r.(?) p.(Ala569Val) - VUS g.30948034C>T - WRN(NM_000553.4):c.1706C>T (p.A569V) - WRN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1717A>G r.(?) p.(Thr573Ala) - VUS g.30948045A>G - WRN(NM_000553.4):c.1717A>G (p.T573A) - WRN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 14 c.1720G>A -, r.(?) p.(Gly574Arg), p.Gly574Arg - likely pathogenic (recessive), NA g.30948048G>A - - - WRN_000121 1 more item PubMed: Friedrich 2010, PubMed: Tadokoro 2013 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 14i c.1720+1G>A r.1653_1720del p.Val552Ilefs*36 - pathogenic (recessive) g.30948049G>A g.31090533G>A - - WRN_000156 - PubMed: Yokote 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1721+25A>T r.(?) p.(=) - benign g.30948375G>T g.31090859G>T 1717+25A>T - WRN_000157 incl. 2 homozygous cases PubMed: Uhrhammer 2006 - - Germline - 3/18 cases WRN - - - Johan den Dunnen
-/. 1 - c.1788T>C r.(?) p.(Ser596=) - benign g.30948417T>C g.31090901T>C WRN(NM_000553.6):c.1788T>C (p.S596=) - WRN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 15 c.1801_1802del r.(?) p.(Leu601AspfsTer9) - pathogenic (recessive) g.30948430_30948431del g.31090914_31090915del 1799_1800delCT - WRN_000158 - PubMed: Huang 2006 - - Germline - - - - - Johan den Dunnen
+/. 1 15i c.1829+2T>G r.1721_1829del p.Gly574Glufs*19 - pathogenic (recessive) g.30948460T>G g.31090944T>G - - WRN_000159 - PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1830-3T>C r.spl? p.? - likely benign g.30949343T>C g.31091827T>C WRN(NM_000553.6):c.1830-3T>C - WRN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1899-19C>T r.(=) p.(=) - benign g.30954265C>T g.31096749C>T WRN(NM_000553.6):c.1899-19C>T - WRN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1899-14G>T r.(=) p.(=) - benign g.30954270G>T g.31096754G>T WRN(NM_000553.6):c.1899-14G>T - WRN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.1899-10G>T r.(=) p.(=) - benign, likely benign g.30954274G>T g.31096758G>T WRN(NM_000553.4):c.1899-10G>T, WRN(NM_000553.6):c.1899-10G>T - WRN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1899-5_1899-4insTTAT r.spl? p.? - likely benign g.30954279_30954280insTTAT g.31096763_31096764insTTAT WRN(NM_000553.6):c.1899-5_1899-4insTTAT - WRN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1899-4A>T r.spl? p.? - likely benign g.30954280A>T g.31096764A>T WRN(NM_000553.6):c.1899-4A>T - WRN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 16i c.1899-3C>G r.1898_1899insAG p.Gly634Glufs*9 - pathogenic (recessive) g.30954281C>G g.31096765C>G - - WRN_000160 - PubMed: Yokote 2017 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1899-2A>T r.spl? p.? - likely pathogenic g.30954282A>T - WRN(NM_000553.4):c.1899-2A>T - WRN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 17 c.1909C>T r.(?) p.(Arg637Trp) - pathogenic (recessive) g.30954294C>T g.31096778C>T 1909A>T (R637W) - WRN_000161 - PubMed: Uhrhammer 2006 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1937G>A r.(?) p.(Cys646Tyr) - VUS g.30954322G>A - WRN(NM_000553.6):c.1937G>A (p.C646Y) - WRN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1981+11A>G r.(=) p.(=) - likely benign g.30954377A>G g.31096861A>G WRN(NM_000553.6):c.1981+11A>G - WRN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 17i c.1982-297A>G r.(1981_1982ins[1982-369_1982-298;g]), r.1981_1982ins[1982-369_1982-298;g] p.? - pathogenic (recessive) g.30958068A>G - - - WRN_000128 - PubMed: Miller 2022 - - Germline - - - - - Johan den Dunnen
-/. 4 17i c.1982-5del r.=, r.spl? p.=, p.? - benign g.30958360del g.31100844del 1982-11delT, WRN(NM_000553.6):c.1982-5delT - WRN_000021 VKGL data sharing initiative Nederland PubMed: Saha 2013 - rs3087419 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 1 17i c.1982-1G>A r.spl p.? - pathogenic (recessive) g.30958364G>A - - - WRN_000120 - PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 18 c.2003_2004del r.(?) p.(Asp668GlyfsTer7) - pathogenic (recessive) g.30958386_30958387del g.31100870_31100871del 2003delAC (D668fs) - WRN_000162 - PubMed: Uhrhammer 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.2040T>C r.(?) p.(Phe680=) - benign g.30958423T>C g.31100907T>C - - WRN_000163 - PubMed: Uhrhammer 2006 - - Germline - 3/18 cases WRN - - - Johan den Dunnen
+/. 1 18 c.2055del r.(?) p.(Lys686SerfsTer5) - pathogenic (recessive) g.30958438del g.31100922del 2055delG - WRN_000164 - PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2067C>T r.(?) p.(Ser689=) - likely benign g.30958450C>T g.31100934C>T WRN(NM_000553.4):c.2067C>T (p.S689=) - WRN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2078C>G r.(?) p.(Ala693Gly) - likely benign g.30958461C>G - WRN(NM_000553.4):c.2078C>G (p.A693G) - WRN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 18i_23i c.2088+651_2825+3670del r.? p.? - pathogenic (recessive) g.30959122_30986186del g.31101606_31128670del chr8:g.31,078,664_31,105,734del, r.2320_3056del, chr8:g.31,078,664_31,105,734del - WRN_000165 - PubMed: Friedrich 2010, PubMed: Oshima 1996, PubMed: Friedrich 2010 - - Germline - - - - - Johan den Dunnen
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