All variants in the IDUA gene

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

378 entries on 4 pages. Showing entries 1 - 100.
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Effect     

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_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_2i c.(?_-88)_(299+1_300-1)del r.0? p.0? - pathogenic g.(?_980785)_(981738_994399)del - - - IDUA_000062 - - - - Germline - - - - - Jill Urquhart
+?/. _1_14_ c.(?_-88)_(*136_?)del r.(?) p.0? - likely pathogenic g.(?_980785)_(998317_?)del - - - IDUA_000061 - - - - Germline - - - - - Jill Urquhart
?/. - 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 c.1A>C r.(?) p.(Met1?) - VUS g.980873A>C g.987085A>C - - IDUA_000001 Protein published as p.(Met1?), mutation previously reported as due to a c.3G>A by {PMID9391892:Lee-Chen and Wang 1997} PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.980873A>G g.987085A>G - - IDUA_000056 - - - - Germline - - - - - Arunabha Ghosh
?/. - c.11T>C r.(?) p.(Leu4Pro) - VUS g.980883T>C - IDUA(NM_000203.5):c.11T>C (p.L4P) - IDUA_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.17_24dup r.(?) p.(Ala9Profs*102) - pathogenic g.980889_980896dup g.987101_987108dup 17_24dupCCCGCGCC - IDUA_000057 - - - - Germline - - - - - Arunabha Ghosh
-/. - c.24C>A r.(?) p.(Ala8=) - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.24C>A r.(?) p.(Ala8=) - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.24C>A r.(?) p.(Ala8=) - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.24C>A r.(?) p.(Ala8=) - benign g.980896C>A g.987108C>A IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.24C>A r.(?) p.(Ala8=) - benign g.980896C>A - IDUA(NM_000203.5):c.24C>A (p.A8=), SLC26A1(NM_134425.4):c.576+4020G>T - IDUA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - 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 c.36_44del r.(?) p.(Leu13_Ala15del) - likely pathogenic g.980908_980916del g.987120_987128del 36_44delGCTCCTGGC - IDUA_000058 - - - - Germline - - - - - Arunabha Ghosh
?/. - 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 c.41T>G r.(?) p.(Leu14Arg) - likely pathogenic g.980913T>G g.987125T>G - - IDUA_000059 - - - - Germline - - - - - Arunabha Ghosh
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.46_57del r.(?) p.(Ser16_A19del) - VUS g.980918_980929del g.987130_987141del 46_57del12 - IDUA_000003 - PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.46_57del r.(?) p.(Ser16_Ala19del) - pathogenic g.980918_980929del g.987130_987141del IDUA(NM_000203.5):c.46_57delTCGCTCCTGGCC (p.S16_A19del) - IDUA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.60G>A r.(?) p.(Ala20=) - likely benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.60G>A r.(?) p.(Ala20=) - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.60G>A r.(?) p.(Ala20=) - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.60G>A r.(?) p.(Ala20=) - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.60G>A r.(?) p.(Ala20=) - benign g.980932G>A g.987144G>A IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.60G>A r.(?) p.(Ala20=) - benign g.980932G>A - IDUA(NM_000203.5):c.60G>A (p.A20=), SLC26A1(NM_134425.3):c.576+3984C>T, SLC26A1(NM_134425.4):c.576+3984C>T - IDUA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.99T>G r.(?) p.(His33Gln) - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.99T>G r.(?) p.(His33Gln) - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.99T>G r.(?) p.(His33Gln) - benign g.980971T>G g.987183T>G IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.99T>G r.(?) p.(His33Gln) - benign g.980971T>G - IDUA(NM_000203.5):c.99T>G (p.H33Q), SLC26A1(NM_134425.4):c.576+3945A>C - IDUA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - 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
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 c.152G>A r.(?) p.(Gly51Asp) - VUS g.981024G>A g.987236G>A - - IDUA_000002 Protein structure disruption PubMed: Bunge 1994 - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.152G>A r.(?) p.(Gly51Asp) - pathogenic g.981024G>A g.987236G>A - - IDUA_000002 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794726877 Germline - 6/2775 individuals - - - Mohammed Faruq
+/. 1i c.158+1G>A r.spl p.? - pathogenic g.981031G>A g.987243G>A - - IDUA_000066 - - - - Germline - - - - - Arunabha Ghosh
+/. - c.158+1G>A 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 - - - - - VKGL-NL_Rotterdam
+/. - 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
+/. - 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
+/. - 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
+/. - 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
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.208C>T r.(?) p.(Gln70*) - VUS g.981646C>T g.987858C>T - - IDUA_000004 - PubMed: Scott 1992 - - Germline - - - - - Gerard C.P. Schaafsma
+/. 2 c.208C>T r.(?) p.(Gln70*) - pathogenic g.981646C>T g.987858C>T - - IDUA_000004 - - - rs121965020 Germline - - - - - Arunabha Ghosh
+/. 2 c.208C>T r.(?) p.(Gln70*) - pathogenic g.981646C>T g.987858C>T - - IDUA_000004 - - - rs121965020 Germline - - - - - Arunabha Ghosh
+/. - c.208C>T r.(?) p.(Gln70Ter) - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.208C>T r.(?) p.(Gln70Ter) - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.208C>T r.(?) p.(Gln70Ter) - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.208C>T r.(?) p.(Gln70*) - pathogenic (recessive) g.981646C>T g.987858C>T - - IDUA_000004 maternal segmental isodisomy chromosome 4 Labrijn-Marks et al, submitted - - Uniparental disomy, maternal allele - - - - - Marianne Hoogeveen-Westerveld
+/. 2 c.208C>T r.(?) p.(Gln70*) - pathogenic (recessive) g.981646C>T g.987858C>T - - IDUA_000004 - Labrijn-Marks et al, submitted - - Germline - - - - - Marianne Hoogeveen-Westerveld
+/. - c.208C>T r.(?) p.(Gln70Ter) - pathogenic g.981646C>T g.987858C>T IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.208C>T r.(?) p.(Gln70Ter) - pathogenic g.981646C>T - IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.208C>T r.(?) p.(Gln70Ter) - likely pathogenic g.981646C>T - IDUA(NM_000203.3):c.208C>T (p.(Gln70*)), IDUA(NM_000203.5):c.208C>T (p.Q70*) - IDUA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.227A>G r.(?) p.(Tyr76Cys) - VUS g.981665A>G g.987877A>G - - IDUA_000005 - PubMed: Bertola 2011 - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.235G>A r.(?) p.(Ala79Thr) - 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
-/. - c.235G>A r.(?) p.(Ala79Thr) - benign g.981673G>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_AMC
-?/. - 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
-?/. - 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
-?/. - c.246C>G r.(?) p.(His82Gln) - likely benign 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_AMC
?/. - c.246C>G r.(?) p.(His82Gln) - 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
?/. - c.246C>G r.(?) p.(His82Gln) - VUS g.981684C>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_Groningen
?/. 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 c.265C>T r.(?) p.(Arg89Trp) - VUS g.981703C>T g.987915C>T - - IDUA_000007 - PubMed: Bunge 1995 - - Germline - - - - - Gerard C.P. Schaafsma
?/. 2 c.265C>T r.(?) p.(Arg89Trp) - VUS g.981703C>T g.987915C>T - - IDUA_000007 - PubMed: Bunge 1995 - - Germline - - - - - Gerard C.P. Schaafsma
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