Unique variants in gene IDS

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

251 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     
+/. 1 1i c.?inv r.? p.? - pathogenic g.? - - - IDS_000095 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.(?_-217)_(103+1_104-1)del) r.0? p.0? - pathogenic g.(148585824_148586564)_(148586884_?)del - exon 1 deletion - IDS_000169 exon 1 deletion, breakpoint not sequenced PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 11 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.?, p.0 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 inversion IDS-intron7 / IDS2 exon3; present in 13% patients, recombination IDS/IDS2 gene, 1 more item PubMed: Bondeson 1995, PubMed: Isogai 1998, PubMed: Moreira da Silva 2001, PubMed: Alves 2006 - - Germline, De novo - - - - - Johan den Dunnen, Yu Sun
+/. 3 _1_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.? - pathogenic g.(148568630_148571844)_(148586884_?)inv - IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated., IDS inversion IDSP1-mediated PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI - - Miguel Angel Alcántara-Ortigoza
+/. 1 _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 - pathogenic g.(147300000_147392284)_(149225394_149300000)del - - arrXq28(147,392,284-149,225,394)x0 IDS_000170 1.83 Mb complete AFF2/IDS/IDSP1 contiguous deletion. FMR1 preserved PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - De novo - - - - - Miguel Angel Alcántara-Ortigoza
+/. 2 1_6i c.(?_-199)_(879+1_880-1)del r.0 p.0 - pathogenic g.? - del ex1-6 - IDS_000010 deletion extends 200 kb upstream PubMed: Vafiadaki 1998, PubMed: Birot 1996 - - Germline - - - - - Johan den Dunnen
+/. 15 _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466; DXS296 and DXS304 present, complete gene deletion, IDS2 present, 11 more items PubMed: Bunge, PubMed: Beck, OMIM:var0007, {PMID:Wilson 1991}, PubMed: Froissart, PubMed: Alves 2006, 4 more items - - Germline - - - - - Johan den Dunnen, Yu Sun
+/. 3 _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(148400000_148467083)_(148624248_148700000)del, g.(148000000_148176414)_(148738845_149000000)del, 1 more item - - arr Xq28(148,467,083-148,624,248)x0 mat, arr Xq28(148,176,414-148,738,845)x0 mat, 1 more item IDS_000188, IDS_000189 157 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved, 2 more items PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline, De novo - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 7i_8i c.(1007-10_1180+10)? r.1007_1180del p.(Trp337_Gly394del) - pathogenic g.(148568446_148568639)? - RNA exon 8 skip - IDS_000000 1 more item PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 8 c.(1007-2_1007-1)? r.1007_1018del p.Trp337_Gly340del - pathogenic g.(148568630_148568631)? - 1131_1142del - IDS_000183 - PubMed: Filocamo 2001 - - Germline - - BanII- - - Johan den Dunnen
+/. 1 3 c.(285_288)[del3] r.(?) p.(Arg96del) - pathogenic g.(148584972_148584975)[del3] - - - IDS_000030 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.419-?_?del r.del p.del - pathogenic g.? - - - IDS_000069 RNA contains ex1-3, no downstream amplification PubMed: Popowska 1995 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.19G>C r.(?) p.(Gly7Arg) - likely benign g.148586649C>G g.149505119C>G IDS(NM_000202.7):c.19G>C (p.G7R) - IDS_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.21_22insG r.(?) p.Arg8fs - pathogenic g.148586646_148586647insC g.149505116_149505117insC - - IDS_000141 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 3 1 c.22C>T r.(?), r.22c>u p.(Arg8*), p.Arg8* - pathogenic g.148586646G>A g.149505116G>A - - IDS_000019 - {PMID:Vafiadaki 1998}, PubMed: Filocamo 2001, PubMed: Vafiadaki 1998 - - Germline - - -EagI - - Johan den Dunnen
+/. 1 1 c.22_37del r.(?) p.(Arg8Trpfs*5) - pathogenic g.148586634_148586649del g.149505104_149505119del 22_37del16pb - IDS_000214 - - - - Germline - - - - - Paula Rozenfeld
-?/. 1 - c.23G>T r.(?) p.(Arg8Leu) - likely benign g.148586645C>A g.149505115C>A IDS(NM_000202.7):c.23G>T (p.R8L) - IDS_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.35G>A r.35g>a p.Trp12* - pathogenic g.148586633C>T g.149505103C>T - - IDS_000057 - PubMed: Filocamo 2001 - - Germline - - MaeI+ - - Johan den Dunnen
+/. 1 1 c.71dup r.(?) p.(Gly25Argfs*22) - pathogenic g.148586597dup g.149505067dup 70_71insT - IDS_000124 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.71_90del r.(?) p.Ala23fs - pathogenic g.148586580_148586599del g.149505050_149505069del 69_88del - IDS_000136 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.103+2T>A r.spl? p.? - pathogenic g.148586563A>T g.149505033A>T IVS1+2T>A - IDS_000072 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 3 1i c.104-2A>G r.[103_104ins104-216_104-1;104-2a>g, 104_212del], r.spl?, 1 more item p.fs*, p.? - pathogenic g.148585825T>C g.149504295T>C IVS1-2A>G - IDS_000023 RNA level 0.7 of normal PubMed: Moreira da Silva 2001, PubMed: Vafiadaki 1998, PubMed: Alves 2006 - - Germline - - - - - Johan den Dunnen, Yu Sun
+/. 1 1i c.104-1G>A r.(104_240del) p.(Asp35Alafs*18) - pathogenic g.148585824C>T g.149504294C>T - - IDS_000184 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 1i c.104-?_507+?del r.104_507del p.? - pathogenic g.148582480_148585823del - g.376_5725del, del ex2-4 - IDS_000035 1 more item {PMID:Bonuccelli 1998} - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.104A>G r.(?) p.(Asp35Gly) - likely benign g.148585823T>C g.149504293T>C IDS(NM_000202.7):c.104A>G (p.D35G) - IDS_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.121_123del r.(?) p.Leu41del - pathogenic g.148585804_148585806del g.149504274_149504276del - - IDS_000142 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.133G>A r.(?) p.(Asp45Asn) - pathogenic g.148585794C>T g.149504264C>T - - IDS_000132 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.133G>C r.(?) p.(Asp45His) - pathogenic g.148585794C>G g.149504264C>G - - IDS_000158 1 more item PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - MwoI - - Miguel Angel Alcántara-Ortigoza
+/. 1 2 c.143G>C r.143g>c p.Arg48Pro - pathogenic g.148585784C>G g.149504254C>G - - IDS_000045 - PubMed: Sukegawa 1995 - - Germline - - HhaI- - - Johan den Dunnen
+/. 1 2 c.181T>C r.(?) p.(Ser61Pro) - pathogenic g.148585746A>G g.149504216A>G - - IDS_000213 - - - - Germline - - - - - Paula Rozenfeld
+/. 2 2 c.187A>G r.(?) p.(Asn63Asp), p.Asn63Asp - pathogenic g.148585740T>C g.149504210T>C - - IDS_000102 - PubMed: Rathmann 1996 - - Germline - - - - - Paula Rozenfeld, Johan den Dunnen
+/. 1 - c.209dup r.(?) p.(His70Glnfs*29) - pathogenic g.148585718dup g.149504189dup - - IDS_000253 1 more item Faruq 2020, submtted - rs797044671 Germline - 2/2779 individuals - - - Mohammed Faruq
+/. 1 2 c.212G>A r.(?) p.(Ser71Asn) - pathogenic g.148585715C>T g.149504185C>T - - IDS_000212 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 2 c.223C>T r.(?) p.(Gln75*) - pathogenic g.148585704G>A g.149504174G>A - - IDS_000159 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
?/. 1 - c.236C>G r.(?) p.(Ala79Gly) - VUS g.148585691G>C g.149504161G>C IDS(NM_000202.5):c.236C>G (p.(Ala79Gly)) - IDS_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 2 c.238C>T r.238c>u, r.(?) p.Gln80*, p.(Gln80*) - pathogenic g.148585689G>A g.149504159G>A - - IDS_000048 - {PMID:Carrozzo 1996}, PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.240+1G>A r.spl? p.? - pathogenic g.148585686C>T g.149504156C>T IVS2+1G>A - IDS_000083 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.240+1G>T r.104_240del p.Asp35Alsfs*18 - pathogenic g.148585686C>A g.149504156C>A - - IDS_000034 - PubMed: Isogai 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 3i_7i c.240+12_(1006+1_1007-1)delins(?) r.[241_1006del, 419_1006del] p.[Gln81Glyfs*4, Ile141_Gly336del] - pathogenic g.? - - - IDS_000000 1 more item PubMed: Birot 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3i_7i c.240+76_1007-1089delins[KT724868:g.261_2375] r.(?) p.(Gln81Glyfs*4) - pathogenic g.148569718_148585611delins148606691_148608805 - NG_011900.3:g.6129_22625delinsAC244197.3:g.45710_48426 - IDS_000171 chimeric IDS-IDSP1 allele replacing IDS exons 4 to 7 with a partial IDSP1 insertion (KT724868) PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016, GenBank KT724868 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 2i c.241-10T>G r.[241_284del, =] p.[Gln81Glufs*3, =] - pathogenic g.148585029A>C g.149503499A>C IVS2-10T>G - IDS_000025 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.241-5A>T r.241_418del p.Gln81Glyfs*73 - pathogenic g.148585024T>A g.149503494T>A - - IDS_000186 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 2i c.241-2A>G r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73] - pathogenic g.148585021T>C g.149503491T>C - - IDS_000148 RNA level 1.1 of normal PubMed: Alves 2006 - - Germline - - - - - Yu Sun
+/. 1 2i c.241-1G>A r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73] - pathogenic g.148585020C>T g.149503490C>T - - IDS_000149 RNA level 0.8 of normal PubMed: Alves 2006 - - Germline - - - - - Yu Sun
+/. 2 3 c.252C>A r.(?) p.(Cys84*) - pathogenic g.148585008G>T g.149503478G>T - - IDS_000133 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 5 3 c.253G>A r.(?), r.253g>a p.(Ala85Thr), p.Ala85Thr - pathogenic g.148585007C>T g.149503477C>T - - IDS_000049 - PubMed: Froisart 2007, PubMed: Rathmann 1996, PubMed: Isogai 1998, 1 more item - - Germline - - HhaI-, HhaI - - Paula Rozenfeld, Johan den Dunnen, Miguel Angel Alcántara-Ortigoza
+/. 1 3 c.253G>T r.(?) p.(Ala85Ser) - pathogenic g.148585007C>A g.149503477C>A - - IDS_000007 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.257C>A r.(?) p.Pro86Gln - pathogenic g.148585003G>T g.149503473G>T - - IDS_000099 - PubMed: Rathmann 1996 - - De novo - - - - - Johan den Dunnen
+/. 7 3 c.257C>T r.(?), r.[257c>u, 241_284del], r.257c>u p.(Pro86Leu), p.[Pro86Leu, Gln81Glufs*3], p.Pro86Leu - pathogenic g.148585003G>A g.149503473G>A IDS(NM_000202.7):c.257C>T (p.P86L) - IDS_000026 VKGL data sharing initiative Nederland, RNA level 0.7 of normal PubMed: Isogai 1998, PubMed: Popowska 1995, PubMed: Vafiadaki 1998, PubMed: Alves 2006 - - CLASSIFICATION record, Germline - - DdaI+, AvaI- - - VKGL-NL_Rotterdam, Johan den Dunnen, Yu Sun
+/. 2 3 c.260G>A r.260g>a, r.(?) p.Ser87Asn, p.(Ser87Asn) - pathogenic g.148585000C>T g.149503470C>T - - IDS_000050, IDS_000150 - PubMed: Popowska 1995 - - Germline - - AvaI- - - Johan den Dunnen, Janell Kierstein
+/. 6 2, 3 c.262C>T r.(?) p.Arg88Cys, p.(Arg88Cys) - pathogenic g.148584998G>A g.149503468G>A 386C>T - IDS_000018 RNA level 1.5 of normal PubMed: Alves 2006, PubMed: Rathmann 1996, PubMed: Moreira da Silva 2001, 1 more item - - Germline, De novo - - AluI+ - - Yu Sun, Johan den Dunnen, Miguel Angel Alcántara-Ortigoza
?/., +/. 9 3 c.263G>A r.(?), r.263g>a p.(Arg88His), p.Arg88His - VUS, pathogenic g.148584997C>T g.149503467C>T R88H - IDS_000002 unique variant PubMed: Tarpey 2009, PubMed: Froisart 2007, PubMed: Rathmann 1996, PubMed: Filocamo 2001, - - Lucy Raymond, Johan den Dunnen
+/. 1 3 c.263G>C r.263g>c p.Arg88Pro - pathogenic g.148584997C>G g.149503467C>G - - IDS_000051 - PubMed: Balzano 1998 - - Germline - - - - - Johan den Dunnen
?/., -?/. 2 - c.265G>A r.(?) p.(Val89Ile) - VUS, likely benign g.148584995C>T g.149503465C>T IDS(NM_000202.5):c.265G>A (p.(Val89Ile)), IDS(NM_000202.7):c.265G>A (p.V89I) - IDS_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 1 3 c.265G>T r.(?) p.(Val89Phe) - pathogenic g.148584995C>A g.149503465C>A - - IDS_000008 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.275T>C r.275u>c p.Leu92Pro - pathogenic g.148584985A>G g.149503455A>G - - IDS_000052 - PubMed: Popowska 1995 - - Germline - - MnlI- - - Johan den Dunnen
+/. 1 3 c.284G>C r.284g>c p.Arg95Thr - pathogenic g.148584976C>G g.149503446C>G 408G>C - IDS_000053 - PubMed: Moreira da Silva 2001 - - Germline - - BssSI+ - - Johan den Dunnen
+/. 1 3 c.288del r.288del p.Arg96Serfs*34 - pathogenic g.148584972del g.149503442del 412delA - IDS_000054 - PubMed: Popowska 1995 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.301C>T r.(?) p.(Arg101Cys) - VUS g.148584959G>A g.149503429G>A IDS(NM_000202.7):c.301C>T (p.R101C) - IDS_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.308C>G r.[309c>g, 241_418del] p.[Tyr103*, Gln81Glyfs*73] - pathogenic g.148584952G>C - 433C>G, g2772C>G - IDS_000027 1 more item PubMed: Bonuccelli 2000 - - Germline - - RsaI- - - Johan den Dunnen
+/. 1 3 c.323A>G r.(?) p.Tyr108Cys - pathogenic g.148584937T>C g.149503407T>C TAC-TGC - IDS_000090 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.343A>T r.(?) p.(Asn115Tyr) - pathogenic g.148584917T>A g.149503387T>A - - IDS_000128 - PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 5 3, 4 c.349_351del r.349_351del, r.(?) p.Ser117del, p.(Ser117del) - pathogenic g.148584910_148584912del g.149503380_149503382del 472delTCC - IDS_000055 - PubMed: Sukegawa 1995, PubMed: Rathmann 1996, PubMed: Filocamo 2001, PubMed: Froisart 2007 - - Germline - - +HphI - - Johan den Dunnen
+/. 1 3 c.353C>A r.(?) p.Ser117Tyr - pathogenic g.148584907G>T g.149503377G>T - - IDS_000143 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 3 c.353C>T r.(?), r.353c>u p.(Thr118Ile), p.Thr118Ile - pathogenic g.148584907G>A g.149503377G>A - - IDS_000056 - PubMed: Froisart 2007, PubMed: Balzano 1998 - - Germline - - Sau3A+ - - Johan den Dunnen
+/. 1 3 c.359C>A r.(?) p.(Pro120His) - pathogenic g.148584901G>T g.149503371G>T - - IDS_000211 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 3 c.374A>T r.(?) p.Glu125Val - pathogenic g.148584886T>A g.149503356T>A - - IDS_000096 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.400G>C r.(?) p.Gly134Arg - pathogenic g.148584860C>G g.149503330C>G - - IDS_000098 - PubMed: Rathmann 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.401G>A r.(?) p.(Gly134Glu) - pathogenic g.148584859C>T g.149503329C>T - - IDS_000210 - - - - Germline - - - - - Paula Rozenfeld
+/., ?/. 2 3 c.404A>G r.(?) p.(Lys135Arg) - pathogenic, VUS g.148584856T>C g.149503326T>C - - IDS_000006 - PubMed: Bunge, OMIM:var0009, {dbSNP28937311} - - Germline, Not applicable - - - - - Johan den Dunnen
+/. 1 3 c.405A>T r.405a>u p.Lys135Asn - pathogenic g.148584855T>A g.149503325T>A - - IDS_000058 - PubMed: Popowska 1995 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.410T>C r.(?) p.(Phe137Ser) - pathogenic g.148584850A>G g.149503320A>G IDS(NM_000202.7):c.410T>C (p.F137S) - IDS_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 3 c.410_411del r.410_411del p.Thr138Serfs*6 - pathogenic g.148584850_148584851del g.149503320_149503321del 533delTT - IDS_000059 - PubMed: Filocamo 2001 - - Germline - - +Alw26I - - Johan den Dunnen
+/. 1 3 c.411del r.(?) p.(His138Thrfs*75) - pathogenic g.148584851del g.149503321del 411delT - IDS_000209 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 3i c.418+1G>A 1 more item p.? - pathogenic g.148584841C>T g.149503311C>T - - IDS_000150 RNA level 0.8 of normal; low % inclusion intronin exon-3a detected in controls PubMed: Alves 2006 - - Germline - - - - - Yu Sun
-/. 2 - c.418+12T>C r.(=) p.(=) - benign g.148584830A>G g.149503300A>G IDS(NM_000202.7):c.418+12T>C - IDS_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 2 3i c.419-132dup r.(?) p.(=) - likely benign g.148582700dup g.149501168dup 419-132_419-131insC - IDS_000175 - - - - Germline - - - - - Yu Sun
-?/., -/. 2 - c.419-6del r.(=) p.(=) - likely benign, benign g.148582584del g.149501053del IDS(NM_000202.7):c.419-6delT - IDS_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 2 - c.419-6dup r.(=) p.(=) - benign g.148582584dup g.149501053dup IDS(NM_000202.7):c.419-6_419-5insT - IDS_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
+?/. 1 3i c.419-1G>A r.spl p.? - likely pathogenic g.148582569C>T g.149501038C>T - - IDS_000178 - - - - Germline ? - - - - Isabella Rau
+/. 1 3i c.419-?_505+?del r.419_505del p.? - pathogenic g.148582482_148582568del - del ex4 - IDS_000060 1 more item PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.419-?_507+?del r.del p.? - pathogenic g.148582480_148582568del - del ex4 - IDS_000070 1 more item PubMed: Vafiadaki 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 3i c.419-?_1006+?del r.419_1006del p.? - pathogenic g.148571845_148582568del - del ex4-7 - IDS_000015 1 more item PubMed: Filocamo 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.425C>A r.(?) p.(Ser142Tyr) - pathogenic g.148582562G>T g.149501031G>T - - IDS_000208 - - - - Germline - - - - - Paula Rozenfeld
-/., ?/., -?/., +?/., +/. 16 4 c.438C>T r.(?), r.438c>u p.(Thr146=), p.=, p.(=) - benign, VUS, likely benign, likely pathogenic, pathogenic g.148582549G>A g.149501018G>A IDS(NM_000202.7):c.438C>T (p.T146=), T146T, 562C>T - IDS_000003 VKGL data sharing initiative Nederland, recurrent variant PubMed: Tarpey 2009, PubMed: Flomen 1992, PubMed: Bunge, OMIM:var0009, PubMed: Filocamo 2001, 1 more item - - CLASSIFICATION record, Germline, Not applicable - 62/208, 0.00-0.70 -MspI - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Lucy Raymond, Johan den Dunnen
+/. 2 4 c.442G>A r.(?) p.(Asp148Asn) - pathogenic g.148582545C>T g.149501014C>T GAT>AAT (D148N) - IDS_000078 RNA level 1.3 of normal PubMed: Froisart 2007, PubMed: Alves 2006 - - Germline - - - - - Johan den Dunnen, Yu Sun
+/. 1 4 c.453T>G r.(?) p.Tyr151* - pathogenic g.148582534A>C g.149501003A>C - - IDS_000104 - PubMed: Isogai 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.454_460del r.(?) p.Ser152Leufs*59 - pathogenic g.148582528_148582534del g.149500997_149501003del 454del7 - IDS_000110 - PubMed: Isogai 1998 - - Germline - - AluI- - - Johan den Dunnen
+/. 1 4 c.455G>T r.(?) p.(Ser152Ile) - pathogenic g.148582532C>A g.149501001C>A - - IDS_000207 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 4 c.458G>T r.(?) p.(Trp153Leu) - pathogenic g.148582529C>A g.149500998C>A TGG>TTG (W153L) - IDS_000079 - PubMed: Froisart 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.463_464delinsCCGTATAGCTGG r.(?) p.(Phe155Profs*12) - pathogenic g.148582523_148582524delinsCCAGCTATACGG g.149500992_149500993delinsCCAGCTATACGG - - IDS_000174 1 more item PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - AvaII - - Miguel Angel Alcántara-Ortigoza
+/. 1 4 c.469C>T r.(?) p.(Pro157Ser) - pathogenic g.148582518G>A g.149500987G>A - - IDS_000206 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 4 c.479C>G r.479c>g p.Pro159Arg - pathogenic g.148582508G>C g.149500977G>C 603C>G - IDS_000061 - PubMed: Flomen 1992, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.500del r.(?) p.(Asn167ThrfsTer46) - pathogenic g.148582490del g.149500959del - - IDS_000135 - PubMed: Vafiadaki 1998, PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 4i c.506-?_879+?del r.506_879del p.? - pathogenic g.148577877_148582481del - del ex5-6 - IDS_000062 1 more item PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 4i c.508-1G>A r.spl p.? - pathogenic g.148579839C>T g.149498308C>T - - IDS_000205 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 4i c.508-1G>C r.spl p.? - pathogenic g.148579839C>G g.149498308C>G - - IDS_000167 abolishes acceptor splice site intron 4 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - Miguel Angel Alcántara-Ortigoza
+/. 1 5 c.509_510del r.(spl?) p.fs* - pathogenic g.148579837_148579838del g.149498306_149498307del - - IDS_000021 - PubMed: Bunge, OMIM:var0011 - - Germline - - - - - Johan den Dunnen
+/. 5 5 c.514C>T r.514c>u, r.(?) p.Arg172*, p.(Arg172*) - pathogenic g.148579832G>A g.149498301G>A 638C>T - IDS_000063 - PubMed: Flomen 1992, OMIM:var0005, PubMed: Froisart 2007, PubMed: Rathmann 1996, PubMed: Isogai 1998, 1 more item - - Germline - - TaqI- - - Johan den Dunnen
+/. 1 5 c.529G>T r.(?) p.Glu177* - pathogenic g.148579817C>A g.149498286C>A - - IDS_000144 - PubMed: Kim 2003 - - Germline - - - - - Johan den Dunnen
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