Unique variants in the IDUA gene

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

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
+/+, ./. 11 - c.1A>C r.? p.Met1Leu pathogenic g.980873A>C - IDUA_000014 Variome.ir
./+ 1 - c.1_1189del r.? p.? pathogenic g.980873_996273del - IDUA_000013 Variome.ir
./. 1 - c.12_19del r.(?) p.(Pro6Argfs*54) likely pathogenic g.980884_980891del - IDUA_000027 Variome.ir
./+ 1 - c.46_57del r.(?) p.(Ser16_Ala19del) pathogenic g.980918_980929del - IDUA_000024 Variome.ir
./. 1 - c.50_61del r.(?) p.(Leu17_Ala20del) likely pathogenic g.980922_980933del - IDUA_000036 Variome.ir
./. 1 - c.58G>T r.(?) p.(Ala20Ser) VUS g.980930G>T - IDUA_000025 Variome.ir
+/+, ./. 2 - c.152G>A r.(?) p.(Gly51Asp) pathogenic g.981024G>A - IDUA_000003 Variome.ir
./. 1 - c.250G>C r.(?) p.(Gly84Arg) pathogenic g.981688G>C - IDUA_000010 Variome.ir
./. 2 - c.266G>A r.(?) p.(Arg89Gln) likely pathogenic g.981704G>A - IDUA_000016 Variome.ir
./. 1 - c.385+1G>A r.spl? p.? pathogenic g.994486G>A - IDUA_000020 Variome.ir
./. 4 - c.469T>C r.(?) p.(Ser157Pro) VUS g.994753T>C - IDUA_000008 Variome.ir
./. 1 - c.494-1G>A r.spl? p.? pathogenic g.995255G>A - IDUA_000029 Variome.ir
+/., ./. 2 - c.523T>C r.(?) p.(Trp175Arg) likely pathogenic g.995285T>C - IDUA_000005 Variome.ir
./. 1 - c.523_543del r.(?) p.(Trp175_Asn181del) likely pathogenic g.995285_995305del - IDUA_000015 Variome.ir
./. 1 - c.544G>C r.(?) p.(Glu182Gln) likely pathogenic g.995306G>C - IDUA_000026 Variome.ir
./. 1 - c.607G>A r.(?) p.(Asp203Asn) VUS g.995484G>A - IDUA_000030 Variome.ir
./. 1 - c.612_615dup r.(?) p.(Ser206Leufs*194) pathogenic g.995489_995492dup - IDUA_000004 Variome.ir
./. 1 - c.615C>G r.(?) p.(Cys205Trp) VUS g.995492C>G - IDUA_000019 Variome.ir
./. 1 - c.656G>A r.(?) p.(Gly219Glu) likely pathogenic g.995533G>A - IDUA_000042 Variome.ir
./. 1 - c.806C>G r.(?) p.(Ser269Cys) VUS g.995783C>G - IDUA_000046 Variome.ir
./. 1 - c.886_894dup r.(?) p.(Tyr296_Asp298dup) VUS g.995863_995871dup - IDUA_000039 Variome.ir
./. 2 - c.1045_1047del r.(?) p.(Asp349del) likely pathogenic g.996129_996131del - IDUA_000035, IDUA_000045 Variome.ir
./. 1 - c.1049A>G r.(?) p.(Asn350Ser) likely pathogenic g.996133A>G - IDUA_000038 Variome.ir
./. 1 - c.1084C>T r.(?) p.(Gln362*) pathogenic g.996168C>T - IDUA_000043 Variome.ir
./+ 1 - c.1088_1089dup r.(?) p.(Thr364Alafs*77) pathogenic g.996172_996173dup - IDUA_000006 Variome.ir
./. 1 - c.1104_1105delCT r.(?) p.(Phe369Profs*29) pathogenic g.996188_996189delCT - IDUA_000041 Variome.ir
./. 1 - c.1175T>C r.(?) p.(Leu392Pro) VUS g.996259T>C - IDUA_000007 Variome.ir
./. 1 - c.1190-1delG r.spl? p.? pathogenic g.996519del - IDUA_000032 Variome.ir
./. 1 - c.1205G>A r.(?) p.(Trp402*) pathogenic g.996535G>A - IDUA_000040 Variome.ir
./. 1 - c.1222dup r.(?) p.(Ala408Glyfs*101) pathogenic g.996552dup - IDUA_000023 Variome.ir
./. 1 - c.1469T>C r.(?) p.(Leu490Pro) pathogenic g.996890T>C - IDUA_000009 Variome.ir
./. 1 - c.1487C>T r.(?) p.(Pro496Leu) likely pathogenic g.996908C>T - IDUA_000031 Variome.ir
./. 1 - c.1522G>A r.(?) p.(Glu508Lys) likely pathogenic g.996943G>A - IDUA_000011 Variome.ir
./. 1 - c.1562_1563insC r.(?) p.(Gly522Argfs*50) likely pathogenic g.997170_997171insC - IDUA_000044 Variome.ir
./. 1 - c.1563dup r.(?) p.(Gly522Argfs*50) likely pathogenic g.997171dup - IDUA_000047 Variome.ir
+/+, ./. 4 - c.1598C>G r.(?) p.(Pro533Arg) pathogenic g.997206C>G - IDUA_000012 Variome.ir
./. 2 - c.1650+5G>A r.spl? p.? pathogenic, VUS g.997263G>A - IDUA_000021 Variome.ir
./. 1 - c.1709A>T r.(?) p.(Asp570Val) VUS g.997395A>T - IDUA_000017 Variome.ir
./. 1 - c.1727+6T>A r.(=) p.(=) VUS g.997419T>A - IDUA_000028 Variome.ir
./+ 1 13 c.1743C>A r.(?) p.(Tyr581*) likely pathogenic g.997815C>A - IDUA_000001 Variome.ir
./. 1 - c.1829_1835del r.(?) p.(Asp610Valfs*?) pathogenic g.998048_998054del - IDUA_000033 Variome.ir
./. 1 - c.1861C>T r.(?) p.(Arg621*) pathogenic g.998080C>T - IDUA_000034 Variome.ir
+/+ 1 - c.1888G>C r.(?) p.(Gly630Arg) pathogenic g.998107G>C - IDUA_000037 Variome.ir
./. 1 - c.1893del r.(?) p.(Phe632Serfs*?) pathogenic g.998112del - IDUA_000018 Variome.ir
./. 1 - c.1898C>A r.(?) p.(Ser633*) pathogenic g.998117C>A - IDUA_000022 Variome.ir
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