Full data view for gene IDS

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

449 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1i c.?inv r.? p.? Parent #1 - pathogenic g.? - - - IDS_000095 - PubMed: Rathmann 1996 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_1i c.(?_-217)_(103+1_104-1)del) r.0? p.0? Maternal (inferred) - 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 - - - 0 - DNA PCR - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 Obligate carrier mother (positive familial history for Hunter syndrome) not available for analysis M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 inversion IDS-intron7 / IDS2 exon3; present in 13% patients PubMed: Bondeson 1995 - - Germline - - - 0 - DNA Southern, SEQ - - MPS-2 - - - M - Sweden - - 0 - - 7 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.0 Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 recombination IDS/IDS2 gene PubMed: Moreira da Silva 2001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 recombination between intron 7 of IDS gene and sequences located distal of exon 3 in IDS-2 PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.? Maternal (confirmed) - pathogenic g.(148568630_148571844)_(148586884_?)inv - IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated. PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI 0 - DNA PCRdig - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.? Maternal (confirmed) - pathogenic g.(148568630_148571844)_(148586884_?)inv - IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI 0 - DNA PCRdig - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.? Maternal (confirmed) - pathogenic g.(148568630_148571844)_(148586884_?)inv - IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI 0 - DNA PCRdig - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Maternal (inferred) - 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 - - - 0 - DNA arrayCNV - - MPS-2 26762690-IDS7 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. 1_6i c.(?_-199)_(879+1_880-1)del r.0 p.0 Parent #1 - pathogenic g.? - del ex1-6 - IDS_000010 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA PCR - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 1_6i c.(?_-199)_(879+1_880-1)del r.0 p.0 Unknown - pathogenic g.? - del ex1-6 - IDS_000010 deletion extends 200 kb upstream PubMed: Birot 1996 - - Germline - - - 0 - DNA PCR, Southern - - MPS-2 - PubMed: Birot 1996 - M - France - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466 and DXS304 PubMed: Beck, OMIM:var0007 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - de novo in germ cells patient's grandfather M - United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, DXS296 and DXS304 present {PMID:Wilson 1991} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, incl. DXS466; DXS296, DXS304 present PubMed: Froissart - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - France - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, incl. DXS466; DXS296, DXS304 present PubMed: Froissart - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - France - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, IDS2 present PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA PCR - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. IDS2 PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA PCR - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, pseudogene IDS2 present PubMed: Alves 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion PubMed: Wraith, OMIM:var0007 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion PubMed: Wraith, OMIM:var0007 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS296; DXS304 present PubMed: Flomen 1992, OMIM:var0002 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466; DXS296 and DXS304 present PubMed: Bunge - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466, DXS304; DXS296 present PubMed: Bunge - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS 295, DXS466; DXS296 and DXS304 present {PMID:Steh-Bondeson 1992} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466; DXS296, DXS295 and DXS304 present {PMID:Steh-Bondeson 1992} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, incl. DXS296; DXS304 present {PMID:Wilson 1991} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(148400000_148467083)_(148624248_148700000)del - - arr Xq28(148,467,083-148,624,248)x0 mat IDS_000188 157 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - 0 - DNA arrayCNV - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(148000000_148176414)_(148738845_149000000)del - - arr Xq28(148,176,414-148,738,845)x0 mat IDS_000188 562 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - 0 - DNA arrayCNV - - MPS-2 26762690-IDS58 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0 Maternal (inferred) - pathogenic g.(147000000_147340291_148731894_149000000)del - - arr Xq28(147,340,291-148,731,894)x0 IDS_000189 1.39 Mb complete AFF2/IDS/IDSP1 contiguous deletion, FMR1 preserved PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - De novo - - - 0 - DNA arrayCNV - - MPS-2 26762690-IDS76 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. 7i_8i c.(1007-10_1180+10)? r.1007_1180del p.(Trp337_Gly394del) Maternal (confirmed) - pathogenic g.(148568446_148568639)? - RNA exon 8 skip - IDS_000000 variant unknown at genomic DNA level, normal results were obtained after PCR-RFLP Hinf restriction pattern for IDS/IDSP1 inversin and after complete IDS exon/exon-intron border sequencing. PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - 0 - DNA, RNA PCRdig, RT-PCR, SEQ - - MPS-2 26762690-IDS5 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. 8 c.(1007-2_1007-1)? r.1007_1018del p.Trp337_Gly340del Parent #1 - pathogenic g.(148568630_148568631)? - 1131_1142del - IDS_000183 - PubMed: Filocamo 2001 - - Germline - - BanII- 0 - DNA SEQ - - MPS-2 11462244-PatH5 PubMed: Filocamo 2001 - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 3 c.(285_288)[del3] r.(?) p.(Arg96del) Parent #1 - pathogenic g.(148584972_148584975)[del3] - - - IDS_000030 - PubMed: Froisart 2007 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 3i c.419-?_?del r.del p.del Parent #1 - pathogenic g.? - - - IDS_000069 RNA contains ex1-3, no downstream amplification PubMed: Popowska 1995 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Poland - - 0 - - 1 Johan den Dunnen
-?/. - c.19G>C r.(?) p.(Gly7Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.21_22insG r.(?) p.Arg8fs Parent #1 - pathogenic g.148586646_148586647insC g.149505116_149505117insC - - IDS_000141 - PubMed: Kim 2003 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Korea - - 0 - - 1 Johan den Dunnen
+/. 1 c.22C>T r.(?) p.(Arg8*) Parent #1 - pathogenic g.148586646G>A g.149505116G>A - - IDS_000019 - {PMID:Vafiadaki 1998} - - Germline - - -EagI 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.22C>T r.22c>u p.Arg8* Parent #1 - pathogenic g.148586646G>A g.149505116G>A - - IDS_000019 - PubMed: Filocamo 2001 - - Germline - - -EagI 0 - DNA SEQ - - MPS-2 - - - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.22C>T r.(?) p.(Arg8*) Parent #1 - pathogenic g.148586646G>A g.149505116G>A - - IDS_000019 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1 c.22_37del r.(?) p.(Arg8Trpfs*5) Parent #1 - pathogenic g.148586634_148586649del g.149505104_149505119del 22_37del16pb - IDS_000214 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 IDS-Fam27 - - M - Argentina - - 0 - - 1 Paula Rozenfeld
-?/. - c.23G>T r.(?) p.(Arg8Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.35G>A r.35g>a p.Trp12* Parent #1 - pathogenic g.148586633C>T g.149505103C>T - - IDS_000057 - PubMed: Filocamo 2001 - - Germline - - MaeI+ 0 - DNA SEQ - - MPS-2 - - - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.71dup r.(?) p.(Gly25Argfs*22) Parent #1 - pathogenic g.148586597dup g.149505067dup 70_71insT - IDS_000124 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1 c.71_90del r.(?) p.Ala23fs Parent #1 - pathogenic g.148586580_148586599del g.149505050_149505069del 69_88del - IDS_000136 - PubMed: Kim 2003 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Korea - - 0 - - 1 Johan den Dunnen
+/. 1i c.103+2T>A r.spl? p.? Parent #1 - pathogenic g.148586563A>T g.149505033A>T IVS1+2T>A - IDS_000072 - PubMed: Froisart 2007 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 1i c.104-2A>G r.[103_104ins104-216_104-1;104-2a>g, 104_212del] p.fs* Parent #1 - pathogenic g.148585825T>C g.149504295T>C IVS1-2A>G - IDS_000023 - PubMed: Moreira da Silva 2001 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. 1i c.104-2A>G r.spl? p.? Parent #1 - pathogenic g.148585825T>C g.149504295T>C IVS1-2A>G - IDS_000023 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Sweden - - 0 - - 1 Johan den Dunnen
+/. 1i c.104-2A>G r.[104_212del, 103_104ins104-216_104-1;104-2a>g] p.fs* Parent #1 - pathogenic g.148585825T>C g.149504295T>C - - IDS_000023 RNA level 0.7 of normal PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. 1i c.104-1G>A r.(104_240del) p.(Asp35Alafs*18) Parent #1 - pathogenic g.148585824C>T g.149504294C>T - - IDS_000184 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 IDS-Fam38 - - M - Argentina - - 0 - - 1 Paula Rozenfeld
+/. 1i c.104-?_507+?del r.104_507del p.? Parent #1 - pathogenic g.148582480_148585823del - g.376_5725del, del ex2-4 - IDS_000035 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. {PMID:Bonuccelli 1998} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Italy - - 0 - - 1 Johan den Dunnen
-?/. - c.104A>G r.(?) p.(Asp35Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.121_123del r.(?) p.Leu41del Parent #1 - pathogenic g.148585804_148585806del g.149504274_149504276del - - IDS_000142 - PubMed: Kim 2003 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Korea - - 0 - - 1 Johan den Dunnen
+/. 2 c.133G>A r.(?) p.(Asp45Asn) Parent #1 - pathogenic g.148585794C>T g.149504264C>T - - IDS_000132 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.133G>C r.(?) p.(Asp45His) Maternal (confirmed) - pathogenic g.148585794C>G g.149504264C>G - - IDS_000158 Absent in 133 control chromosomes (MwoI digestion); Polyphen/SIFT in silico predictions: probably Damaging (HumDiv score 1.0)/damaging PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - MwoI 0 - DNA SEQ - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. 2 c.143G>C r.143g>c p.Arg48Pro Parent #1 - pathogenic g.148585784C>G g.149504254C>G - - IDS_000045 - PubMed: Sukegawa 1995 - - Germline - - HhaI- 0 - DNA SEQ - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 2 c.181T>C r.(?) p.(Ser61Pro) Parent #1 - pathogenic g.148585746A>G g.149504216A>G - - IDS_000213 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 IDS-Fam10 - - M - Argentina - - 0 - - 1 Paula Rozenfeld
+/. 2 c.187A>G r.(?) p.Asn63Asp Parent #1 - pathogenic g.148585740T>C g.149504210T>C - - IDS_000102 - PubMed: Rathmann 1996 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.187A>G r.(?) p.(Asn63Asp) Parent #1 - pathogenic g.148585740T>C g.149504210T>C - - IDS_000102 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 IDS-Fam17 - - M - Argentina - - 0 - - 1 Paula Rozenfeld
+/. - c.209dup r.(?) p.(His70Glnfs*29) Parent #1 - pathogenic g.148585718dup g.149504189dup - - IDS_000253 2 heterozygous, no homozygous; Clinindb (India) Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. Faruq 2020, submtted - rs797044671 Germline - 2/2779 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. 2 c.212G>A r.(?) p.(Ser71Asn) Parent #1 - pathogenic g.148585715C>T g.149504185C>T - - IDS_000212 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 IDS-Fam9 - - M - Argentina - - 0 - - 1 Paula Rozenfeld
+/. 2 c.223C>T r.(?) p.(Gln75*) Maternal (confirmed) - pathogenic g.148585704G>A g.149504174G>A - - IDS_000159 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - 0 - DNA SEQ - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
?/. - c.236C>G r.(?) p.(Ala79Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.238C>T r.238c>u p.Gln80* Parent #1 - pathogenic g.148585689G>A g.149504159G>A - - IDS_000048 - {PMID:Carrozzo 1996} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 2 c.238C>T r.(?) p.(Gln80*) Parent #1 - pathogenic g.148585689G>A g.149504159G>A - - IDS_000048 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2i c.240+1G>A r.spl? p.? Parent #1 - pathogenic g.148585686C>T g.149504156C>T IVS2+1G>A - IDS_000083 - PubMed: Froisart 2007 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 2i c.240+1G>T r.104_240del p.Asp35Alsfs*18 Parent #1 - pathogenic g.148585686C>A g.149504156C>A - - IDS_000034 - PubMed: Isogai 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 3i_7i c.240+12_(1006+1_1007-1)delins(?) r.[241_1006del, 419_1006del] p.[Gln81Glyfs*4, Ile141_Gly336del] Parent #1 - pathogenic g.? - - - IDS_000000 IDS-IDS2 pseudogene rearrangement, internal deletion exons 4-7 replaced by pseudogene 3i_7i related sequences PubMed: Birot 1996 - - Germline - - - 0 - DNA SEQ - - MPS-2 - PubMed: Birot 1996 - M - France - - 0 - - 1 Johan den Dunnen
+/. 3i_7i c.240+76_1007-1089delins[KT724868:g.261_2375] r.(?) p.(Gln81Glyfs*4) Maternal (confirmed) - 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 - - - 0 - DNA PCR, SEQ - - MPS-2 26762690-IDS11 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. 2i c.241-10T>G r.[241_284del, =] p.[Gln81Glufs*3, =] Parent #1 - pathogenic g.148585029A>C g.149503499A>C IVS2-10T>G - IDS_000025 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2i c.241-5A>T r.241_418del p.Gln81Glyfs*73 Parent #1 - pathogenic g.148585024T>A g.149503494T>A - - IDS_000186 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPS-2 IDS-Fam7 - - M - Argentina - - 0 - - 1 Paula Rozenfeld
+/. 2i c.241-2A>G r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73] Parent #1 - pathogenic g.148585021T>C g.149503491T>C - - IDS_000148 RNA level 1.1 of normal PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. 2i c.241-1G>A r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73] Parent #1 - pathogenic g.148585020C>T g.149503490C>T - - IDS_000149 RNA level 0.8 of normal PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. 3 c.252C>A r.(?) p.(Cys84*) Parent #1 - pathogenic g.148585008G>T g.149503478G>T - - IDS_000133 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.252C>A r.(?) p.(Cys84*) Parent #1 - pathogenic g.148585008G>T g.149503478G>T - - IDS_000133 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.253G>A r.253g>a p.(Ala85Thr) Parent #1 - pathogenic g.148585007C>T g.149503477C>T - - IDS_000049 - PubMed: Froisart 2007 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.253G>A r.253g>a p.Ala85Thr Parent #1 - pathogenic g.148585007C>T g.149503477C>T - - IDS_000049 - PubMed: Rathmann 1996 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.253G>A r.253g>a p.Ala85Thr Parent #1 - pathogenic g.148585007C>T g.149503477C>T - - IDS_000049 - PubMed: Isogai 1998 - - Germline - - HhaI- 0 - DNA SEQ - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.253G>A r.(?) p.(Ala85Thr) Maternal (confirmed) - pathogenic g.148585007C>T g.149503477C>T - - IDS_000049 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HhaI 0 - DNA SEQ - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
+/. 3 c.253G>A r.(?) p.(Ala85Thr) Parent #1 - pathogenic g.148585007C>T g.149503477C>T - - IDS_000049 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 IDS-Fam5 - - M - Argentina - - 0 - - 1 Paula Rozenfeld
+/. 3 c.253G>T r.(?) p.(Ala85Ser) Parent #1 - pathogenic g.148585007C>A g.149503477C>A - - IDS_000007 - PubMed: Froisart 2007 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.257C>A r.(?) p.Pro86Gln Parent #1 - pathogenic g.148585003G>T g.149503473G>T - - IDS_000099 - PubMed: Rathmann 1996 - - De novo - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.257C>T r.[257c>u, 241_284del] p.[Pro86Leu, Gln81Glufs*3] Parent #1 - pathogenic g.148585003G>A g.149503473G>A - - IDS_000026 - PubMed: Isogai 1998 - - Germline - - DdaI+ 0 - DNA SEQ - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.257C>T r.257c>u p.Pro86Leu Parent #1 - pathogenic g.148585003G>A g.149503473G>A - - IDS_000026 - PubMed: Popowska 1995 - - Germline - - AvaI- 0 - DNA SEQ - - MPS-2 - - - M - Poland - - 0 - - 1 Johan den Dunnen
+/. 3 c.257C>T r.(?) p.(Pro86Leu) Parent #1 - pathogenic g.148585003G>A g.149503473G>A - - IDS_000026 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.257C>T r.(?) p.(Pro86Leu) Parent #1 - pathogenic g.148585003G>A g.149503473G>A - - IDS_000026 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) Irish - 0 - - 1 Johan den Dunnen
+/. 3 c.257C>T r.(?) p.(Pro86Leu) Parent #1 - pathogenic g.148585003G>A g.149503473G>A - - IDS_000026 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - South Africa - - 0 - - 1 Johan den Dunnen
+/. 3 c.257C>T r.[257c>u, 241_284del] p.[Pro86Leu, Gln81Glufs*3] Parent #1 - pathogenic g.148585003G>A g.149503473G>A - - IDS_000026 RNA level 0.7 of normal PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. - c.257C>T r.(?) p.(Pro86Leu) Unknown - pathogenic g.148585003G>A g.149503473G>A IDS(NM_000202.7):c.257C>T (p.P86L) - IDS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.260G>A r.260g>a p.Ser87Asn Parent #1 - pathogenic g.148585000C>T g.149503470C>T - - IDS_000050 - PubMed: Popowska 1995 - - Germline - - AvaI- 0 - DNA SEQ - - MPS-2 - - - M - Poland - - 0 - - 1 Johan den Dunnen
+/. 3 c.260G>A r.(?) p.(Ser87Asn) Parent #1 - pathogenic g.148585000C>T g.149503470C>T - - IDS_000150 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M no United States - - 0 - - 1 Janell Kierstein
+/. 2 c.262C>T r.(?) p.Arg88Cys Parent #1 - pathogenic g.148584998G>A g.149503468G>A - - IDS_000018 RNA level 1.5 of normal PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. 3 c.262C>T r.(?) p.Arg88Cys Parent #1 - pathogenic g.148584998G>A g.149503468G>A - - IDS_000018 - PubMed: Rathmann 1996 - - De novo - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.262C>T r.(?) p.Arg88Cys Parent #1 - pathogenic g.148584998G>A g.149503468G>A - - IDS_000018 - PubMed: Rathmann 1996 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Spain - - 0 - - 1 Johan den Dunnen
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