Unique variants in the IDUA gene

Information The variants shown are described using the NM_000203.3 transcript reference sequence.

173 entries on 2 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 _1_14_ c.-909321_*2377456del r.0 p.0 - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 _1_2i c.(?_-88)_(299+1_300-1)del r.0? p.0? - pathogenic g.(?_980785)_(981738_994399)del - - - IDUA_000062 - - - - Germline - - - - - Jill Urquhart
+?/. 1 _1_14_ c.(?_-88)_(*136_?)del r.(?) p.0? - likely pathogenic g.(?_980785)_(998317_?)del - - - IDUA_000061 - - - - Germline - - - - - Jill Urquhart
?/. 1 - c.-72G>C r.(?) p.(=) - VUS g.980801G>C g.987013G>C - - IDUA_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 5 c.[562T>C;1269C>A] r.(?) p.[Phe188Leu; Ser423Arg] - VUS g.[995324T>C;996599C>A] - - - IDUA_000015 1 more item PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 1 c.1A>C r.(?) p.(Met1?) - VUS g.980873A>C g.987085A>C - - IDUA_000001 1 more item PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 1 c.1A>G r.(?) p.0? - pathogenic g.980873A>G g.987085A>G - - IDUA_000056 - - - - Germline - - - - - Arunabha Ghosh
+/. 1 1 c.17_24dup r.(?) p.(Ala9Profs*102) - pathogenic g.980889_980896dup g.987101_987108dup 17_24dupCCCGCGCC - IDUA_000057 - - - - Germline - - - - - Arunabha Ghosh
-/. 4 - c.24C>A r.(?) p.(Ala8=) - benign g.980896C>A g.987108C>A 1 more item - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.36G>T r.(?) p.(Ala12=) - likely benign g.980908G>T - IDUA(NM_000203.5):c.36G>T (p.A12=) - IDUA_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1 c.36_44del r.(?) p.(Leu13_Ala15del) - likely pathogenic g.980908_980916del g.987120_987128del 36_44delGCTCCTGGC - IDUA_000058 - - - - Germline - - - - - Arunabha Ghosh
?/. 1 - c.36_44dup r.(?) p.(Leu13_Ala15dup) - VUS g.980908_980916dup - IDUA(NM_000203.5):c.36_44dupGCTCCTGGC (p.L13_A15dup) - IDUA_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 1 c.41T>G r.(?) p.(Leu14Arg) - likely pathogenic g.980913T>G g.987125T>G - - IDUA_000059 - - - - Germline - - - - - Arunabha Ghosh
+/., ?/. 7 1 c.46_57del r.(?) p.(Ser16_A19del), p.(Ser16_Ala19del) - pathogenic, VUS g.980918_980929del g.987130_987141del 46_57del12, IDUA(NM_000203.5):c.46_57delTCGCTCCTGGCC (p.S16_A19del) - IDUA_000003 VKGL data sharing initiative Nederland PubMed: Bunge 1994 - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam
-/., -?/. 5 - c.60G>A r.(?) p.(Ala20=) - benign, likely benign g.980932G>A g.987144G>A 1 more item - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 3 - c.99T>G r.(?) p.(His33Gln) - benign g.980971T>G g.987183T>G 1 more item - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.141G>C r.(?) p.(Trp47Cys) - VUS g.981013G>C g.987225G>C IDUA(NM_000203.5):c.141G>C (p.W47C) - IDUA_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 9 1 c.152G>A r.(?) p.(Gly51Asp) - pathogenic, VUS g.981024G>A g.987236G>A - - IDUA_000002 6 heterozygous, no homozygous; Clinindb (India), Protein structure disruption PubMed: Bunge 1994, PubMed: Narang 2020, Journal: Narang 2020 - rs794726877 Germline - 6/2775 individuals - - - Gerard C.P. Schaafsma, Mohammed Faruq
+/. 2 1i c.158+1G>A r.spl, r.spl? p.? - pathogenic g.981031G>A g.987243G>A IDUA(NM_000203.5):c.158+1G>A - IDUA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Arunabha Ghosh
+/. 1 - c.164del r.(?) p.(Pro55ArgfsTer53) - pathogenic g.981602del - IDUA(NM_000203.5):c.164delC (p.P55Rfs*53) - IDUA_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.164dup r.(?) p.(Leu56AlafsTer7) - pathogenic g.981602dup g.987814dup IDUA(NM_000203.5):c.164dupC (p.L56Afs*7) - IDUA_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.165dup r.(?) p.(Leu56AlafsTer7) - pathogenic g.981603dup g.987815dup IDUA(NM_000203.5):c.165dupG (p.L56Afs*7) - IDUA_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.192C>A r.(?) p.(Tyr64Ter) - pathogenic g.981630C>A g.987842C>A IDUA(NM_000203.5):c.192C>A (p.Y64*) - IDUA_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., ?/. 38 2 c.208C>T r.(?) p.(Gln70*), p.(Gln70Ter) - pathogenic, pathogenic (recessive), VUS g.981646C>T g.987858C>T IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 maternal segmental isodisomy chromosome 4, VKGL data sharing initiative Nederland Labrijn-Marks et al, submitted, PubMed: Scott 1992 - rs121965020 CLASSIFICATION record, Germline, Uniparental disomy, maternal allele - - - - - Gerard C.P. Schaafsma, Marianne Hoogeveen-Westerveld, VKGL-NL_Rotterdam, Arunabha Ghosh, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 2 c.227A>G r.(?) p.(Tyr76Cys) - VUS g.981665A>G g.987877A>G - - IDUA_000005 - PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-/., -?/. 2 - c.235G>A r.(?) p.(Ala79Thr) - benign, likely benign g.981673G>A g.987885G>A IDUA(NM_000203.3):c.235G>A (p.(Ala79Thr)), IDUA(NM_000203.5):c.235G>A (p.A79T) - IDUA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.237C>T r.(?) p.(Ala79=) - likely benign g.981675C>T - IDUA(NM_000203.5):c.237C>T (p.A79=) - IDUA_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.238G>A r.(?) p.(Val80Ile) - likely benign g.981676G>A g.987888G>A - - IDUA_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 - c.246C>G r.(?) p.(His82Gln) - likely benign, VUS g.981684C>G g.987896C>G IDUA(NM_000203.5):c.246C>G (p.H82Q), SLC26A1(NM_213613.4):c.*937G>C - IDUA_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 2 c.250G>C r.(?) p.(Gly84Arg) - VUS g.981688G>C g.987900G>C - - IDUA_000006 Gain of binding site and disruption to protein structure PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 2 c.265C>T r.(?) p.(Arg89Trp) - VUS g.981703C>T g.987915C>T - - IDUA_000007 - PubMed: Bunge 1995 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 2 c.266G>C r.(?) p.(Arg89Pro) - VUS g.981704G>C g.987916G>C - - IDUA_000063 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
-/., -?/. 5 - c.299+6C>T r.(=) p.(=) - benign, likely benign g.981743C>T g.987955C>T 1 more item - IDUA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.299+7G>A r.(=) p.(=) - likely benign g.981744G>A g.987956G>A - - IDUA_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.299+1127del r.(=) p.(=) - VUS g.982864del - SLC26A1(NM_213613.4):c.1864delC (p.L622*) - IDUA_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.299+1480G>A r.(=) p.(=) - benign g.983217G>A g.989429G>A - - IDUA_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.299+1674C>T r.(=) p.(=) - likely benign g.983411C>T g.989623C>T SLC26A1(NM_213613.4):c.1316G>A (p.R439Q) - IDUA_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/., ?/. 2 - c.299+1917G>A r.(=) p.(=) - likely pathogenic, VUS g.983654G>A g.989866G>A SLC26A1(NM_213613.3):c.1073C>T (p.S358L) - SLC26A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.299+2285C>T r.(=) p.(=) - likely benign g.984022C>T - SLC26A1(NM_213613.3):c.705G>A (p.R235=) - IDUA_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.299+2387G>T r.(=) p.(=) - VUS g.984124G>T g.990336G>T - - IDUA_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.299+2395G>A r.(=) p.(=) - VUS g.984132G>A g.990344G>A - - IDUA_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 - c.299+3201G>A r.(=) p.(=) - likely pathogenic, VUS g.984938G>A g.991150G>A SLC26A1(NM_213613.3):c.554C>T (p.T185M) - SLC26A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.299+3323G>A r.(=) p.(=) - likely benign g.985060G>A g.991272G>A SLC26A1(NM_213613.3):c.432C>T (p.A144=) - IDUA_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.299+3355C>T r.(=) p.(=) - VUS g.985092C>T g.991304C>T SLC26A1(NM_213613.3):c.400G>A (p.G134R) - IDUA_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.299+3573C>T r.(=) p.(=) - benign g.985310C>T g.991522C>T - - IDUA_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.299+3589C>T r.(=) p.(=) - likely benign g.985326C>T g.991538C>T SLC26A1(NM_213613.4):c.166G>A (p.A56T) - SLC26A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.299+3728C>G r.(=) p.(=) - VUS g.985465C>G g.991677C>G SLC26A1(NM_022042.3):c.27G>C (p.(Gln9His)) - IDUA_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.299+3990A>G r.(=) p.(=) - benign g.985727A>G g.991939A>G IDUA(NM_000203.5):c.299+3990A>G, SLC26A1(NM_213613.4):c.-27-209T>C - IDUA_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 3 c.307A>C r.(?) p.(Thr103Pro) - VUS g.994407A>C g.1000619A>C - - IDUA_000008 - PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-/. 3 - c.314G>A r.(?) p.(Arg105Gln) - benign g.994414G>A g.1000626G>A IDUA(NM_000203.5):c.314G>A (p.R105Q) - IDUA_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 2 - c.346G>A r.(?) p.(Gly116Arg) - likely benign g.994446G>A g.1000658G>A IDUA(NM_000203.3):c.346G>A (p.(Gly116Arg)) - IDUA_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-/. 4 - c.352C>T r.(?) p.(Leu118=) - benign g.994452C>T g.1000664C>T IDUA(NM_000203.5):c.352C>T (p.L118=) - IDUA_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.356A>C r.(?) p.(Asp119Ala) - VUS g.994456A>C g.1000668A>C IDUA(NM_000203.3):c.356A>C (p.(Asp119Ala)) - IDUA_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.365G>A r.(?) p.(Arg122Lys) - likely benign g.994465G>A g.1000677G>A IDUA(NM_000203.3):c.365G>A (p.(Arg122Lys)) - IDUA_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 3 c.380_382del r.(?) p.(Leu127del) - VUS g.994480_994482del g.1000692_1000694del 380_382del3 - IDUA_000009 - PubMed: Venturi 2002 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 3 c.382C>T r.(?) p.(Pro128Ser) - VUS g.994482C>T g.1000694C>T - - IDUA_000178 - PubMed: Ganapathy 2019 - rs754674352 Germline - - - - - Johan den Dunnen
?/. 1 3i c.385+1G>A r.spl p.? - VUS g.994486G>A g.1000698G>A - - IDUA_000010 r.spl? PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 3 3i c.386-2A>G r.spl, r.spl? p.? - pathogenic g.994668A>G g.1000880A>G IDUA(NM_000203.5):c.386-2A>G - IDUA_000067 VKGL data sharing initiative Nederland - - rs777295041 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Arunabha Ghosh, VKGL-NL_Nijmegen
+/. 3 3i c.386-1G>A r.spl p.? - pathogenic g.994669G>A g.1000881G>A - - IDUA_000068 - - - - Germline - - - - - Arunabha Ghosh
?/. 1 4 c.398_403del r.(?) p.(Met133_Gly134del) - VUS g.994682_994687del g.1000894_1000899del 398_403del6 - IDUA_000011 r.spl? PubMed: Venturi 2002 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 4i c.493+1G>A r.spl p.? - VUS g.994778G>A g.1000990G>A - - IDUA_000012 r.spl? PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.493+11G>A r.(=) p.(=) - likely benign g.994788G>A g.1001000G>A IDUA(NM_000203.5):c.493+11G>A - IDUA_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., ?/. 6 4i c.494-1G>A r.spl, r.spl? p.(Arg166Thrfs*27), p.? - pathogenic, VUS g.995255G>A g.1001467G>A IDUA(NM_000203.5):c.494-1G>A - IDUA_000013 VKGL data sharing initiative Nederland PubMed: Bertola 2011 - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam
+/. 1 5 c.506_513delinsGGAA r.(?) p.(Leu169Argfs*24) - pathogenic g.995268_995275delinsGGAA g.1001480_1001487delinsGGAA - - IDUA_000069 - - - - Germline - - - - - Arunabha Ghosh
+?/. 1 5 c.523_534del r.(?) p.(Trp175_Glu178del) - likely pathogenic g.995285_995296del g.1001497_1001508del 523_534delTGGAACTTCGAG - IDUA_000070 - - - - Germline - - - - - Arunabha Ghosh
?/. 1 5 c.532G>A r.(?) p.(Glu178Lys) - VUS g.995294G>A g.1001506G>A - - IDUA_000014 Gain of functional sites including post-translational modifications PubMed: Venturi 2002 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 5 c.536C>A r.(?) p.(Thr179Lys) - pathogenic g.995298C>A g.1001510C>A - - IDUA_000071 - - - - Germline - - - - - Arunabha Ghosh
-/. 3 - c.543T>C r.(?) p.(Asn181=) - benign g.995305T>C g.1001517T>C IDUA(NM_000203.5):c.543T>C (p.N181=) - IDUA_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.571G>C r.(?) p.(Val191Leu) - VUS g.995333G>C - IDUA(NM_000203.5):c.571G>C (p.V191L) - IDUA_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 5 c.574del r.(?) p.(Ser192Profs*2) - VUS g.995336del g.1001548del 574delT - IDUA_000016 - PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.581C>G r.(?) p.(Thr194Ser) - likely benign g.995343C>G g.1001555C>G - - IDUA_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.590-8C>T r.(=) p.(=) - benign g.995459C>T g.1001671C>T IDUA(NM_000203.5):c.590-8C>T - IDUA_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 5i c.590-1G>C r.spl p.? - pathogenic g.995466G>C g.1001678G>C - - IDUA_000072 - - - - Germline - - - - - Arunabha Ghosh
?/. 1 6 c.603C>G r.(?) p.(Tyr201*) - VUS g.995480C>G g.1001692C>G - - IDUA_000017 - PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 - c.613_617dup r.(?) p.(Glu207Alafs*29) - pathogenic (recessive) g.995490_995494dup g.1001702_1001706dup NM_000203.3:c.613_617dupTGCTC:p.(Glu207Alafs*29) - IDUA_000172 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. 1 6 c.614G>A r.(?) p.(Cys205Tyr) - pathogenic g.995491G>A g.1001703G>A - - IDUA_000073 - - - - Germline - - - - - Arunabha Ghosh
+/. 1 - c.653T>C r.(?) p.(Leu218Pro) - pathogenic g.995530T>C g.1001742T>C IDUA(NM_000203.5):c.653T>C (p.L218P) - IDUA_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.656G>A r.(?) p.(Gly219Glu) - VUS g.995533G>A g.1001745G>A - - IDUA_000018 Protein structure disruption PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 6 c.659G>A r.(?) p.(Gly220Asp) - pathogenic g.995536G>A g.1001748G>A - - IDUA_000074 - - - - Germline - - - - - Arunabha Ghosh
-?/. 1 - c.663C>G r.(?) p.(Pro221=) - likely benign g.995540C>G g.1001752C>G IDUA(NM_000203.3):c.663C>G (p.(=)) - IDUA_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.709C>T r.(?) p.(Leu237Phe) - benign, likely benign g.995586C>T g.1001798C>T IDUA(NM_000203.3):c.709C>T (p.(Leu237Phe)), IDUA(NM_000203.5):c.709C>T (p.L237F) - IDUA_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/. 1 6 c.784del r.(?) p.(His262Thrfs*55) - pathogenic g.995661del g.1001873del - - IDUA_000075 - - - - Germline - - - - - Arunabha Ghosh
-?/. 2 - c.788G>A r.(?) p.(Arg263Lys) - likely benign g.995665G>A g.1001877G>A IDUA(NM_000203.5):c.788G>A (p.R263K) - IDUA_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 3 7 c.793G>C r.spl? p.(Gly265Arg) - VUS g.995770G>C g.1001982G>C - - IDUA_000019 Secondary structure disruption, gain of methylation at Gly265 PubMed: Yogalingam 2004 - - Germline - - - - - Gerard C.P. Schaafsma
+?/. 1 7 c.794G>A r.(?) p.(Gly265Asp) - likely pathogenic g.995771G>A g.1001983G>A - - IDUA_000076 - - - - Germline - - - - - Arunabha Ghosh
+/., ?/. 4 7 c.826G>A r.(?) p.(Glu276Lys) - pathogenic, VUS g.995803G>A g.1002015G>A IDUA(NM_000203.5):c.826G>A (p.E276K) - IDUA_000020 VKGL data sharing initiative Nederland PubMed: Bertola 2011 - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam
?/. 1 7 c.826_828del r.(?) p.(Glu276del) - VUS g.995803_995805del g.1002015_1002017del 826_828del3 - IDUA_000021 - PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 - c.873_874insACACCCC r.(?) p.(Asp292Thrfs*109) - likely pathogenic (recessive) g.995850_995851insACACCCC g.1002062_1002063insACACCCC NM_000203.3:c.873_874insACACCCC - IDUA_000173 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
?/. 2 7 c.878_889dup r.(?) p.(Thr293_Tyr296dup) - VUS g.995855_995866dup g.1002067_1002078dup - - IDUA_000022 - PubMed: Bunge 1995 - - Germline - - - - - Gerard C.P. Schaafsma
-/., -?/. 5 - c.891C>T r.(=), r.(?) p.(=), p.(Asn297=) - benign, likely benign g.995868C>T g.1002080C>T IDUA(NM_000203.5):c.891C>T (p.N297=) - IDUA_000109 148 heterozygous; Clinindb (India), 3 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs114806891 CLASSIFICATION record, Germline - 148/2795 individuals, 3/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.910G>C r.(?) p.(Val304Leu) - VUS g.995887G>C - IDUA(NM_001363576.1):c.514G>C (p.V172L) - IDUA_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.917G>T r.(?) p.(Trp306Leu) - VUS g.995894G>T g.1002106G>T - - IDUA_000025 Loss of catalytic residue at P309 PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 - c.920C>T r.(?) p.(Ser307Phe) - VUS g.995897C>T g.1002109C>T IDUA(NM_000203.3):c.920C>T (p.(Ser307Phe)) - IDUA_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.942G>C r.(?) p.(Ala314=) - benign g.995919G>C g.1002131G>C IDUA(NM_000203.5):c.942G>C (p.A314=) - IDUA_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 - c.943G>T r.(?) p.(Asp315Tyr) - pathogenic g.995920G>T g.1002132G>T IDUA(NM_000203.5):c.943G>T (p.D315Y) - IDUA_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 7 c.956C>T r.(?) p.(Ala319Val) ACMG likely pathogenic (recessive) g.995933C>T g.1002145C>T - - IDUA_000177 - Bahena et al., 2021 (submitted) - - Germline yes - - - - Barbara Vona
?/. 1 7 c.956_972+9delinsTA r.(?) p.(Thr317_Lys324del) - VUS g.995933_995958delinsTA g.1002145_1002170delinsTA - - IDUA_000023 r.spl? PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.965T>A r.(?) p.(Val322Glu) - likely benign g.995942T>A g.1002154T>A - - IDUA_000112 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76722191 Germline - 1/2793 individuals - - - Mohammed Faruq
?/. 1 7i c.972+2T>C r.spl? p.? - VUS g.995951T>C g.1002163T>C - - IDUA_000024 r.spl? PubMed: Scott 1993 - - Germline - - - - - Gerard C.P. Schaafsma
-/. 1 - c.972+48A>G r.(=) p.(=) - benign g.995997A>G g.1002209A>G IDUA(NM_000203.5):c.972+48A>G - IDUA_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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