HGSNAT — 1289 ClinVar variants
All ClinVar germline HGSNAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
72 Pathogenic · 36 Pathogenic/Likely pathogenic · 86 Likely pathogenic · 54 Conflicting · 45 Benign · 13 Benign/Likely benign · 542 Likely benign · 441 Uncertain significance
Full HGSNAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll HGSNAT variants
Pathogenic 72
- c.234+1G>A Multiple submitters HGSNAT-related disorders
- c.372-2A>G Multiple submitters HGSNAT-related disorders
- c.493+1G>A Multiple submitters HGSNAT-related disorders
- c.744-2A>G Multiple submitters mucopolysaccharidosis type 3C
- c.852-1G>A Multiple submitters retinitis pigmentosa 73
- c.852-2A>C Multiple submitters mucopolysaccharidosis type 3C
- p.Arg203Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Arg384Ter Multiple submitters HGSNAT-related disorders
- p.Arg506Ter Multiple submitters retinitis pigmentosa 73
- p.Asp449fs Multiple submitters HGSNAT-related disorders
- p.Asp450fs Multiple submitters HGSNAT-related disorders
- p.Gln34fs Multiple submitters retinitis pigmentosa 73
- p.Gln350Ter Multiple submitters inherited retinal dystrophy
- p.Gln454Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Glu471Lys Multiple submitters HGSNAT-related disorders
- p.Ile480fs Multiple submitters mucopolysaccharidosis type 3C
- p.Val176fs Multiple submitters retinitis pigmentosa 73
- c.1378-1G>A Single submitter mucopolysaccharidosis type 3
- c.1464+1del Single submitter mucopolysaccharidosis type 3C
- c.1542+2T>C Single submitter
- c.1726+1G>T Single submitter mucopolysaccharidosis type 3C
- c.234+3A>T Single submitter HGSNAT-related disorders
- c.493+1G>C Single submitter retinitis pigmentosa 73
- c.493+809T>C Single submitter mucopolysaccharidosis type 3C
- c.852-2A>G Single submitter mucopolysaccharidosis type 3C
- p.Ala175fs Single submitter retinitis pigmentosa 73
- p.Ala4fs Single submitter mucopolysaccharidosis type 3C
- p.Arg207fs Single submitter mucopolysaccharidosis type 3C
- p.Arg45fs Single submitter mucopolysaccharidosis type 3C
- p.Asp341fs Single submitter retinitis pigmentosa 73
- p.Asp385fs Single submitter retinitis pigmentosa 73
- p.Cys323Ter Single submitter mucopolysaccharidosis type 3C
- p.Cys380fs Single submitter mucopolysaccharidosis type 3C
- p.Cys415fs Single submitter retinitis pigmentosa 73
- p.Cys415Ter Single submitter mucopolysaccharidosis type 3C
- p.Gln227Ter Single submitter mucopolysaccharidosis type 3C
- p.Gln392Ter Single submitter mucopolysaccharidosis type 3C
- p.Gln454fs Single submitter
- p.Gln82Ter Single submitter mucopolysaccharidosis type 3C
- p.Glu126Ter Single submitter mucopolysaccharidosis type 3C
- p.Glu212Ter Single submitter retinitis pigmentosa 73
- p.Gly261Ter Single submitter mucopolysaccharidosis type 3C
- p.Gly486fs Single submitter Inborn genetic diseases
- p.His451fs Single submitter mucopolysaccharidosis type 3C
- p.Leu186Ter Single submitter mucopolysaccharidosis type 3C
- p.Leu240fs Single submitter mucopolysaccharidosis type 3C
- p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer Single submitter mucopolysaccharidosis type 3C
- p.Leu311fs Single submitter retinitis pigmentosa 73
- p.Leu320fs Single submitter mucopolysaccharidosis type 3C
- p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer Single submitter mucopolysaccharidosis type 3C
- p.Leu504fs Single submitter retinitis pigmentosa 73
- p.Leu537fs Single submitter mucopolysaccharidosis type 3C
- p.Leu566fs Single submitter retinitis pigmentosa 73
- p.Lys198fs Single submitter retinitis pigmentosa 73
- p.Lys43Ter Single submitter retinitis pigmentosa 73
- p.Met51fs Single submitter mucopolysaccharidosis type 3C
- p.Phe484_Leu485insTer Single submitter mucopolysaccharidosis type 3C
- p.Pro228fs Single submitter mucopolysaccharidosis type 3C
- p.Pro25fs Single submitter retinitis pigmentosa 73
- p.Pro38fs Single submitter mucopolysaccharidosis type 3C
- p.Ser296Ter Single submitter mucopolysaccharidosis type 3C
- p.Ser29Ter Single submitter retinitis pigmentosa 73
- p.Ser518Phe Single submitter retinitis pigmentosa 73
- p.Trp265fs Single submitter mucopolysaccharidosis type 3C
- p.Trp272Ter Single submitter mucopolysaccharidosis type 3C
- p.Trp71fs Single submitter retinitis pigmentosa 73
- p.Tyr468fs Single submitter mucopolysaccharidosis type 3C
- p.Tyr558Ter Single submitter mucopolysaccharidosis type 3C
- c.(1250+1_1251-1 No assertion criteria inherited retinal dystrophy
- c.1543-2A>C No assertion criteria retinitis pigmentosa 73
- p.Gly133Ala No assertion criteria retinitis pigmentosa 73
- p.Leu321Ter No assertion criteria mucopolysaccharidosis type 3C
Pathogenic/Likely pathogenic 36
- c.1013-1G>C Multiple submitters inherited retinal dystrophy
- c.118+1G>A Multiple submitters mucopolysaccharidosis type 3C
- c.1250+1G>A Multiple submitters HGSNAT-related disorders
- c.1464+1G>A Multiple submitters mucopolysaccharidosis type 3C
- c.1542+4dup Multiple submitters retinitis pigmentosa 73
- c.1543-2A>G Multiple submitters HGSNAT-related disorders
- c.1726+1G>A Multiple submitters mucopolysaccharidosis type 3C
- c.494-1G>A Multiple submitters mucopolysaccharidosis type 3C
- c.494-2A>G Multiple submitters retinitis pigmentosa 73
- p.Ala169fs Multiple submitters mucopolysaccharidosis type 3C
- p.Ala489Glu Multiple submitters retinitis pigmentosa 73
- p.Arg247fs Multiple submitters mucopolysaccharidosis type 3
- p.Arg309Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Arg344His Multiple submitters retinitis pigmentosa 73
- p.Arg351Ter Multiple submitters HGSNAT-related disorders
- p.Asn141fs Multiple submitters HGSNAT-related disorder
- p.Cys151fs Multiple submitters mucopolysaccharidosis type 3C
- p.Gln89Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Glu131Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Glu204Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Gly173Asp Multiple submitters mucopolysaccharidosis type 3
- p.Gly424Val Multiple submitters retinitis pigmentosa 73
- p.Gly576Ter Multiple submitters
- p.Ile345fs Multiple submitters HGSNAT-related disorders
- p.Ile425fs Multiple submitters mucopolysaccharidosis type 3C
- p.Leu22fs Multiple submitters retinitis pigmentosa 73
- p.Leu55Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Lys368Ter Multiple submitters HGSNAT-related disorders
- p.Pro283Leu Multiple submitters HGSNAT-related disorders
- p.Ser234fs Multiple submitters mucopolysaccharidosis type 3C
- p.Ser541Leu Multiple submitters mucopolysaccharidosis type 3C
- p.Trp284Ter Multiple submitters mucopolysaccharidosis type 3C
- p.Trp316Ter Multiple submitters retinitis pigmentosa 73
- p.Trp390fs Multiple submitters HGSNAT-related disorders
- p.Tyr441Ter Multiple submitters mucopolysaccharidosis type 3C
- c.743+1del No assertion criteria mucopolysaccharidosis type 3C
Likely pathogenic 86
- c.1129-2A>T Multiple submitters mucopolysaccharidosis type 3C
- c.1614-2A>T Multiple submitters retinitis pigmentosa 73
- p.Gly248Ala Multiple submitters mucopolysaccharidosis type 3C
- p.Gly424Ser Multiple submitters retinitis pigmentosa 73
- p.Pro91fs Multiple submitters retinitis pigmentosa 73
- c.1129-11_1134del Single submitter retinitis pigmentosa 73
- c.118+2T>C Single submitter mucopolysaccharidosis type 3C
- c.119-2A>C Single submitter mucopolysaccharidosis type 3C
- c.119-2A>G Single submitter
- c.1251-2A>G Single submitter mucopolysaccharidosis type 3C
- c.1342_1377+1dup Single submitter mucopolysaccharidosis type 3C
- c.1377+1G>A Single submitter mucopolysaccharidosis type 3C
- c.1378-2A>G Single submitter mucopolysaccharidosis type 3C
- c.1464+1G>T Single submitter HGSNAT-related disorders
- c.1545del Single submitter mucopolysaccharidosis type 3C
- c.1613+2T>G Single submitter mucopolysaccharidosis type 3C
- c.1614-1G>C Single submitter mucopolysaccharidosis type 3C
- c.563+1G>C Single submitter mucopolysaccharidosis type 3C
- c.563+2T>A Single submitter mucopolysaccharidosis type 3C
- c.564-1G>A Single submitter retinitis pigmentosa 73
- c.564-2A>T Single submitter mucopolysaccharidosis type 3C
- c.634-2A>G Single submitter retinitis pigmentosa 73
- c.743+1G>T Single submitter mucopolysaccharidosis type 3C
- c.744-2A>C Single submitter retinitis pigmentosa 73
- c.820+1G>A Single submitter mucopolysaccharidosis type 3C
- p.Ala10fs Single submitter mucopolysaccharidosis type 3C
- p.Ala21fs Single submitter mucopolysaccharidosis type 3C
- p.Ala4_Leu12delinsArgArgAlaTer Single submitter mucopolysaccharidosis type 3C
- p.Ala54Val Single submitter
- p.Arg124Met Single submitter HGSNAT-related disorders
- p.Arg239fs Single submitter mucopolysaccharidosis type 3C
- p.Arg247Ser Single submitter mucopolysaccharidosis type 3C
- p.Arg31fs Single submitter HGSNAT-related disorders
- p.Arg506fs Single submitter mucopolysaccharidosis type 3C
- p.Asn258Ser Single submitter retinitis pigmentosa 73
- p.Asn273Ile Single submitter mucopolysaccharidosis type 3C
- p.Asn578Tyr Single submitter retinitis pigmentosa 73
- p.Asp206fs Single submitter mucopolysaccharidosis type 3C
- p.Asp244fs Single submitter mucopolysaccharidosis type 3C
- p.Cys76Phe Single submitter mucopolysaccharidosis type 3C
- p.Gln112Ter Single submitter mucopolysaccharidosis type 3C
- p.Gln53Ter Single submitter mucopolysaccharidosis type 3C
- p.Glu121fs Single submitter mucopolysaccharidosis type 3C
- p.Glu157Ter Single submitter mucopolysaccharidosis type 3C
- p.Glu471Ter Single submitter mucopolysaccharidosis type 3C
- p.Glu526fs Single submitter mucopolysaccharidosis type 3C
- p.Glu74Ter Single submitter mucopolysaccharidosis type 3C
- p.Gly145Ter Single submitter mucopolysaccharidosis type 3C
- p.Gly248Arg Single submitter mucopolysaccharidosis type 3C
- p.Gly262Ter Single submitter mucopolysaccharidosis type 3C
- p.Gly325Ter Single submitter mucopolysaccharidosis type 3C
- p.Gly429Val Single submitter
- p.Ile473fs Single submitter mucopolysaccharidosis type 3C
- p.Leu11fs Single submitter mucopolysaccharidosis type 3C
- p.Leu125_Glu126delinsTer Single submitter mucopolysaccharidosis type 3C
- p.Leu189fs Single submitter mucopolysaccharidosis type 3C
- p.Leu280fs Single submitter mucopolysaccharidosis type 3C
- p.Leu445Pro Single submitter mucopolysaccharidosis type 3C
- p.Leu493fs Single submitter mucopolysaccharidosis type 3C
- p.Lys523Ter Single submitter mucopolysaccharidosis type 3C
- p.Lys95Ter Single submitter mucopolysaccharidosis type 3C
- p.Pro532Ser Single submitter HGSNAT-related disorders
- p.Pro571Leu Single submitter mucopolysaccharidosis type 3C
- p.Ser109fs Single submitter mucopolysaccharidosis type 3C
- p.Ser376Ter Single submitter retinitis pigmentosa 73
- p.Ser541Thr Single submitter retinitis pigmentosa 73
- p.Thr500fs Single submitter mucopolysaccharidosis type 3C
- p.Thr522fs Single submitter mucopolysaccharidosis type 3C
- p.Thr570fs Single submitter retinitis pigmentosa 73
- p.Trp284Arg Single submitter mucopolysaccharidosis type 3C
- p.Trp390Ter Single submitter mucopolysaccharidosis type 3C
- p.Tyr127Ter Single submitter mucopolysaccharidosis type 3C
- p.Tyr264Cys Single submitter HGSNAT-related disorders
- p.Tyr356Ter Single submitter mucopolysaccharidosis type 3C
- p.Tyr453fs Single submitter mucopolysaccharidosis type 3C
- p.Tyr583Ser Single submitter HGSNAT-related disorders
- p.Tyr70fs Single submitter mucopolysaccharidosis type 3C
- p.Val354fs Single submitter mucopolysaccharidosis type 3C
- p.Val524fs Single submitter mucopolysaccharidosis type 3C
- c.1542+1G>A No assertion criteria mucopolysaccharidosis type 3C
- c.1542+1G>C No assertion criteria mucopolysaccharidosis type 3C
- c.1542+2T>G No assertion criteria mucopolysaccharidosis type 3C
- c.851+1G>A No assertion criteria mucopolysaccharidosis type 3C
- c.851+1G>T No assertion criteria mucopolysaccharidosis type 3C
- p.Asp279Ala No assertion criteria mucopolysaccharidosis type 3C
- p.Gly418Arg No assertion criteria retinitis pigmentosa 73
Conflicting classifications of pathogenicity 54
- c.1129-10C>A Single submitter retinitis pigmentosa 73
- c.118+5G>A Single submitter mucopolysaccharidosis type 3C
- c.1250+6C>T Single submitter retinitis pigmentosa 73
- c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG Single submitter mucopolysaccharidosis type 3C
- c.1614-2A>G Single submitter mucopolysaccharidosis type 3C
- c.234+14C>G Single submitter mucopolysaccharidosis type 3C
- c.235-9T>G Single submitter mucopolysaccharidosis type 3C
- c.371+15T>A Single submitter mucopolysaccharidosis type 3C
- c.493+5G>A Single submitter retinitis pigmentosa 73
- c.851+10C>T Single submitter mucopolysaccharidosis type 3C
- c.852-13A>G Single submitter mucopolysaccharidosis type 3C
- p.Ala10= Single submitter inherited retinal dystrophy
- p.Ala101Val Single submitter retinitis pigmentosa 73
- p.Ala36= Single submitter mucopolysaccharidosis type 3C
- p.Ala360= Single submitter mucopolysaccharidosis type 3C
- p.Ala520Thr Single submitter Inborn genetic diseases
- p.Ala520Val Single submitter mucopolysaccharidosis type 3C
- p.Ala615Thr Single submitter HGSNAT-related disorders
- p.Ala93Ser Single submitter Inborn genetic diseases
- p.Arg124Trp Single submitter HGSNAT-related disorders
- p.Arg239Cys Single submitter HGSNAT-related disorders
- p.Arg247= Single submitter mucopolysaccharidosis type 3C
- p.Arg344Cys Single submitter mucopolysaccharidosis type 3C
- p.Arg444Cys Single submitter mucopolysaccharidosis type 3C
- p.Arg499Trp Single submitter mucopolysaccharidosis type 3C
- p.Arg6Lys Single submitter mucopolysaccharidosis type 3C
- p.Asn114= Single submitter mucopolysaccharidosis type 3C
- p.Asn332Ser Single submitter mucopolysaccharidosis type 3C
- p.Asn433Asp Single submitter Inborn genetic diseases
- p.Asp443Asn Single submitter mucopolysaccharidosis type 3C
- p.Glu471Gln Single submitter mucopolysaccharidosis type 3C
- p.Glu587Lys Single submitter Inborn genetic diseases
- p.Gly325Glu Single submitter mucopolysaccharidosis type 3C
- p.Gly423= Single submitter retinitis pigmentosa 73
- p.Gly423Trp Single submitter mucopolysaccharidosis type 3
- p.Ile293Val Single submitter retinitis pigmentosa 73
- p.Met482Lys Single submitter HGSNAT-related disorders
- p.Phe595fs Single submitter retinitis pigmentosa 73
- p.Pro237Gln Single submitter mucopolysaccharidosis type 3C
- p.Pro283Ser Single submitter mucopolysaccharidosis type 3C
- p.Pro37= Single submitter mucopolysaccharidosis type 3C
- p.Pro413Ser Single submitter retinitis pigmentosa 73
- p.Ser197= Single submitter mucopolysaccharidosis type 3C
- p.Ser296Leu Single submitter inherited retinal dystrophy
- p.Ser2Arg Single submitter retinitis pigmentosa 73
- p.Ser539Cys Single submitter retinitis pigmentosa 73
- p.Thr417Ile Single submitter Inborn genetic diseases
- p.Thr522Met Single submitter retinitis pigmentosa
- p.Thr545Lys Single submitter retinitis pigmentosa 73
- p.Trp567Ter Single submitter mucopolysaccharidosis type 3C
- p.Tyr496= Single submitter mucopolysaccharidosis type 3C
- p.Tyr627Cys Single submitter retinitis pigmentosa 73
- p.Val69Ile Single submitter retinitis pigmentosa 73
- p.Val87Ile Single submitter retinitis pigmentosa 73
Benign 45
- c.118+54C>T Multiple submitters
- c.1251-130C>T Multiple submitters
- c.1251-47C>T Multiple submitters
- c.1377+20G>A Multiple submitters mucopolysaccharidosis type 3C
- c.1727-9C>G Multiple submitters mucopolysaccharidosis type 3C
- c.235-75G>A Multiple submitters
- c.371+82C>T Multiple submitters retinitis pigmentosa 73
- c.493+120G>A Multiple submitters
- c.563+50C>T Multiple submitters
- c.633+210G>A Multiple submitters
- c.633+240T>G Multiple submitters
- c.820+123C>T Multiple submitters
- c.-174G>A Multiple submitters
- c.*1216G>A Multiple submitters mucopolysaccharidosis type 3C
- c.*1231G>A Multiple submitters mucopolysaccharidosis type 3C
- c.*1780C>T Multiple submitters mucopolysaccharidosis type 3C
- c.*1801T>C Multiple submitters mucopolysaccharidosis type 3C
- p.Gln227Leu Multiple submitters mucopolysaccharidosis type 3C
- p.Thr230Met Multiple submitters mucopolysaccharidosis type 3C
- p.Tyr583= Multiple submitters mucopolysaccharidosis type 3C
- p.Val614Ile Multiple submitters mucopolysaccharidosis type 3C
- c.1129-222G>A Single submitter
- c.1129-7dup Single submitter retinitis pigmentosa 73
- c.118+333C>T Single submitter
- c.119-164del Single submitter
- c.119-23del Single submitter
- c.1250+19dup Single submitter retinitis pigmentosa 73
- c.1251-12del Single submitter retinitis pigmentosa 73
- c.1251-220A>G Single submitter
- c.1251-289G>A Single submitter
- c.1251-291G>C Single submitter
- c.1464+216dup Single submitter
- c.234+331C>T Single submitter
- c.564-112_564-109del Single submitter
- c.634-7del Single submitter mucopolysaccharidosis type 3C
- c.821-276G>A Single submitter
- c.*1086G>C Single submitter mucopolysaccharidosis type 3C
- c.*1212C>T Single submitter mucopolysaccharidosis type 3C
- c.*1942A>G Single submitter mucopolysaccharidosis type 3C
- c.*2755C>T Single submitter mucopolysaccharidosis type 3C
- c.*477G>A Single submitter mucopolysaccharidosis type 3C
- c.*585T>C Single submitter mucopolysaccharidosis type 3C
- c.*600C>T Single submitter mucopolysaccharidosis type 3C
- c.*733G>T Single submitter mucopolysaccharidosis type 3C
- p.Ala4Pro Single submitter retinitis pigmentosa 73
Benign/Likely benign 13
- c.1250+7G>A Multiple submitters mucopolysaccharidosis type 3C
- c.1251-4C>T Multiple submitters Inborn genetic diseases
- c.1542+20C>T Multiple submitters retinitis pigmentosa 73
- c.493+13T>A Multiple submitters mucopolysaccharidosis type 3C
- c.493+46G>T Multiple submitters
- c.564-4dup Multiple submitters mucopolysaccharidosis type 3C
- c.821-28T>C Multiple submitters retinitis pigmentosa 73
- p.Ala21= Multiple submitters mucopolysaccharidosis type 3C
- p.Gly424= Multiple submitters mucopolysaccharidosis type 3C
- p.Gly565Arg Multiple submitters mucopolysaccharidosis type 3C
- p.Lys523Gln Multiple submitters mucopolysaccharidosis type 3C
- p.Pro228Thr Multiple submitters mucopolysaccharidosis type 3C
- p.Thr276= Multiple submitters mucopolysaccharidosis type 3C
Likely benign 542
Showing the top 300 by review status; the full set is in the sitemap.
- c.1012+10T>A Multiple submitters retinitis pigmentosa 73
- c.1013-12T>G Multiple submitters retinitis pigmentosa 73
- c.1128+8A>G Multiple submitters mucopolysaccharidosis type 3C
- c.118+11A>G Multiple submitters mucopolysaccharidosis type 3C
- c.118+32G>C Multiple submitters
- c.1250+14T>C Multiple submitters mucopolysaccharidosis type 3C
- c.1377+14G>A Multiple submitters mucopolysaccharidosis type 3C
- c.1377+15A>T Multiple submitters mucopolysaccharidosis type 3C
- c.1377+19C>T Multiple submitters mucopolysaccharidosis type 3C
- c.1378-20T>G Multiple submitters retinitis pigmentosa 73
- c.1464+145G>A Multiple submitters
- c.1465-14G>A Multiple submitters mucopolysaccharidosis type 3C
- c.1543-19C>T Multiple submitters mucopolysaccharidosis type 3C
- c.1727-106T>G Multiple submitters
- c.1727-19G>A Multiple submitters mucopolysaccharidosis type 3C
- c.234+20C>G Multiple submitters mucopolysaccharidosis type 3C
- c.494-15C>A Multiple submitters mucopolysaccharidosis type 3C
- c.563+20C>T Multiple submitters retinitis pigmentosa 73
- c.633+20G>C Multiple submitters retinitis pigmentosa 73
- c.743+7G>A Multiple submitters mucopolysaccharidosis type 3C
- c.821-235T>A Multiple submitters
- c.851+11G>A Multiple submitters retinitis pigmentosa 73
- c.851+14C>G Multiple submitters mucopolysaccharidosis type 3C
- c.851+9C>T Multiple submitters mucopolysaccharidosis type 3C
- c.*3213T>A Multiple submitters mucopolysaccharidosis type 3C
- c.*817C>T Multiple submitters mucopolysaccharidosis type 3C
- p.Ala20= Multiple submitters inherited retinal dystrophy
- p.Ala315= Multiple submitters retinitis pigmentosa 73
- p.Ala4= Multiple submitters retinitis pigmentosa 73
- p.Arg218= Multiple submitters retinitis pigmentosa 73
- p.Asn156= Multiple submitters mucopolysaccharidosis type 3C
- p.Asn86= Multiple submitters inherited retinal dystrophy
- p.Asp341= Multiple submitters mucopolysaccharidosis type 3C
- p.Asp449= Multiple submitters mucopolysaccharidosis type 3C
- p.Cys334= Multiple submitters retinitis pigmentosa 73
- p.His107= Multiple submitters mucopolysaccharidosis type 3C
- p.His586= Multiple submitters mucopolysaccharidosis type 3C
- p.Ile613= Multiple submitters retinitis pigmentosa 73
- p.Leu222= Multiple submitters mucopolysaccharidosis type 3C
- p.Leu280= Multiple submitters retinitis pigmentosa 73
- p.Leu295= Multiple submitters retinitis pigmentosa 73
- p.Leu310= Multiple submitters mucopolysaccharidosis type 3C
- p.Leu446= Multiple submitters mucopolysaccharidosis type 3C
- p.Leu504= Multiple submitters mucopolysaccharidosis type 3C
- p.Leu67= Multiple submitters mucopolysaccharidosis type 3C
- p.Lys430= Multiple submitters retinitis pigmentosa 73
- p.Phe192= Multiple submitters mucopolysaccharidosis type 3C
- p.Phe593= Multiple submitters mucopolysaccharidosis type 3C
- p.Pro283= Multiple submitters mucopolysaccharidosis type 3C
- p.Pro470= Multiple submitters mucopolysaccharidosis type 3C
- p.Pro96= Multiple submitters mucopolysaccharidosis type 3C
- p.Ser102= Multiple submitters mucopolysaccharidosis type 3C
- p.Ser29= Multiple submitters retinitis pigmentosa 73
- p.Ser541= Multiple submitters mucopolysaccharidosis type 3C
- p.Thr230= Multiple submitters mucopolysaccharidosis type 3C
- p.Thr522= Multiple submitters retinitis pigmentosa 73
- p.Tyr259= Multiple submitters mucopolysaccharidosis type 3C
- p.Val160Ala Multiple submitters mucopolysaccharidosis type 3C
- p.Val255= Multiple submitters retinitis pigmentosa 73
- p.Val588= Multiple submitters mucopolysaccharidosis type 3C
- c.1012+14C>A Single submitter retinitis pigmentosa 73
- c.1012+14C>T Single submitter retinitis pigmentosa 73
- c.1012+15C>T Single submitter retinitis pigmentosa 73
- c.1012+19T>C Single submitter retinitis pigmentosa 73
- c.1012+7A>G Single submitter retinitis pigmentosa 73
- c.1012+7dup Single submitter mucopolysaccharidosis type 3C
- c.1012+8C>A Single submitter mucopolysaccharidosis type 3C
- c.1012+8del Single submitter mucopolysaccharidosis type 3C
- c.1013-12T>C Single submitter mucopolysaccharidosis type 3C
- c.1013-15_1013-14del Single submitter retinitis pigmentosa 73
- c.1013-20C>T Single submitter mucopolysaccharidosis type 3C
- c.1013-4G>A Single submitter mucopolysaccharidosis type 3C
- c.1013-9C>G Single submitter retinitis pigmentosa 73
- c.1128+11A>G Single submitter retinitis pigmentosa 73
- c.1128+13G>A Single submitter retinitis pigmentosa 73
- c.1128+14T>A Single submitter retinitis pigmentosa 73
- c.1128+16T>C Single submitter mucopolysaccharidosis type 3C
- c.1128+9C>A Single submitter mucopolysaccharidosis type 3C
- c.1129-11C>T Single submitter mucopolysaccharidosis type 3C
- c.1129-5C>T Single submitter retinitis pigmentosa 73
- c.1129-6A>G Single submitter mucopolysaccharidosis type 3C
- c.1129-7C>A Single submitter retinitis pigmentosa 73
- c.1129-7C>T Single submitter mucopolysaccharidosis type 3C
- c.1129-9C>T Single submitter retinitis pigmentosa 73
- c.118+10C>A Single submitter mucopolysaccharidosis type 3C
- c.118+10C>T Single submitter mucopolysaccharidosis type 3C
- c.118+11A>C Single submitter mucopolysaccharidosis type 3C
- c.118+11A>T Single submitter mucopolysaccharidosis type 3C
- c.118+12C>G Single submitter retinitis pigmentosa 73
- c.118+12C>T Single submitter retinitis pigmentosa 73
- c.118+13C>A Single submitter retinitis pigmentosa 73
- c.118+13C>G Single submitter retinitis pigmentosa 73
- c.118+13C>T Single submitter mucopolysaccharidosis type 3C
- c.118+16C>G Single submitter retinitis pigmentosa 73
- c.118+16C>T Single submitter retinitis pigmentosa 73
- c.118+17T>C Single submitter retinitis pigmentosa 73
- c.118+18A>C Single submitter retinitis pigmentosa 73
- c.118+18A>G Single submitter mucopolysaccharidosis type 3C
- c.118+19C>T Single submitter mucopolysaccharidosis type 3C
- c.118+20C>G Single submitter retinitis pigmentosa 73
- c.118+20C>T Single submitter mucopolysaccharidosis type 3C
- c.118+221G>T Single submitter
- c.118+69C>T Single submitter
- c.118+7G>A Single submitter mucopolysaccharidosis type 3C
- c.118+7G>C Single submitter mucopolysaccharidosis type 3C
- c.118+8C>G Single submitter mucopolysaccharidosis type 3C
- c.118+8C>T Single submitter mucopolysaccharidosis type 3C
- c.118+9A>C Single submitter mucopolysaccharidosis type 3C
- c.119-12A>C Single submitter mucopolysaccharidosis type 3C
- c.119-12A>G Single submitter retinitis pigmentosa 73
- c.119-15C>T Single submitter retinitis pigmentosa 73
- c.119-5A>G Single submitter mucopolysaccharidosis type 3C
- c.119-9T>C Single submitter mucopolysaccharidosis type 3C
- c.1250+10C>A Single submitter mucopolysaccharidosis type 3C
- c.1250+10C>T Single submitter retinitis pigmentosa 73
- c.1250+11C>A Single submitter retinitis pigmentosa 73
- c.1250+12C>T Single submitter retinitis pigmentosa 73
- c.1250+15G>C Single submitter retinitis pigmentosa 73
- c.1250+16G>A Single submitter mucopolysaccharidosis type 3C
- c.1250+17G>T Single submitter mucopolysaccharidosis type 3C
- c.1250+18G>A Single submitter retinitis pigmentosa 73
- c.1250+342dup Single submitter
- c.1250+7G>C Single submitter retinitis pigmentosa 73
- c.1251-14T>C Single submitter mucopolysaccharidosis type 3C
- c.1251-16C>G Single submitter retinitis pigmentosa 73
- c.1251-16C>T Single submitter mucopolysaccharidosis type 3C
- c.1251-4C>G Single submitter retinitis pigmentosa 73
- c.1251-6T>C Single submitter mucopolysaccharidosis type 3C
- c.1251-8C>A Single submitter mucopolysaccharidosis type 3C
- c.1251-9C>T Single submitter mucopolysaccharidosis type 3C
- c.1377+11C>G Single submitter mucopolysaccharidosis type 3C
- c.1377+13C>A Single submitter mucopolysaccharidosis type 3C
- c.1377+13C>T Single submitter mucopolysaccharidosis type 3C
- c.1377+14G>C Single submitter retinitis pigmentosa 73
- c.1377+15A>G Single submitter mucopolysaccharidosis type 3C
- c.1377+7G>A Single submitter mucopolysaccharidosis type 3C
- c.1377+7G>C Single submitter retinitis pigmentosa 73
- c.1377+9G>C Single submitter mucopolysaccharidosis type 3C
- c.1378-13T>G Single submitter retinitis pigmentosa 73
- c.1378-17T>C Single submitter mucopolysaccharidosis type 3C
- c.1378-9T>C Single submitter
- c.1464+10C>A Single submitter retinitis pigmentosa 73
- c.1464+11A>C Single submitter mucopolysaccharidosis type 3C
- c.1464+11A>G Single submitter retinitis pigmentosa 73
- c.1464+14_1464+18del Single submitter mucopolysaccharidosis type 3C
- c.1464+16A>T Single submitter retinitis pigmentosa 73
- c.1464+17T>C Single submitter mucopolysaccharidosis type 3C
- c.1464+9T>A Single submitter retinitis pigmentosa 73
- c.1465-15T>C Single submitter retinitis pigmentosa 73
- c.1465-16G>A Single submitter mucopolysaccharidosis type 3C
- c.1465-18C>T Single submitter retinitis pigmentosa 73
- c.1465-19del Single submitter retinitis pigmentosa 73
- c.1465-5T>C Single submitter retinitis pigmentosa 73
- c.1465-6C>T Single submitter mucopolysaccharidosis type 3C
- c.1465-7C>T Single submitter mucopolysaccharidosis type 3C
- c.1465-9C>T Single submitter mucopolysaccharidosis type 3C
- c.1542+12G>A Single submitter retinitis pigmentosa 73
- c.1542+18C>T Single submitter retinitis pigmentosa 73
- c.1543-10C>G Single submitter retinitis pigmentosa 73
- c.1543-10C>T Single submitter mucopolysaccharidosis type 3C
- c.1543-11C>A Single submitter retinitis pigmentosa 73
- c.1543-12T>G Single submitter retinitis pigmentosa 73
- c.1543-16C>T Single submitter retinitis pigmentosa 73
- c.1543-19C>G Single submitter retinitis pigmentosa 73
- c.1543-20C>A Single submitter retinitis pigmentosa 73
- c.1543-5T>G Single submitter retinitis pigmentosa 73
- c.1543-74A>G Single submitter
- c.1543-7A>G Single submitter mucopolysaccharidosis type 3C
- c.1543-8C>T Single submitter retinitis pigmentosa 73
- c.1543-9C>A Single submitter retinitis pigmentosa 73
- c.1613+8T>C Single submitter retinitis pigmentosa 73
- c.1614-10C>T Single submitter retinitis pigmentosa 73
- c.1614-11A>G Single submitter mucopolysaccharidosis type 3C
- c.1614-12C>T Single submitter retinitis pigmentosa 73
- c.1614-13C>T Single submitter mucopolysaccharidosis type 3C
- c.1614-16C>T Single submitter mucopolysaccharidosis type 3C
- c.1614-17T>C Single submitter retinitis pigmentosa 73
- c.1614-18C>G Single submitter retinitis pigmentosa 73
- c.1614-20G>A Single submitter retinitis pigmentosa 73
- c.1614-5C>T Single submitter retinitis pigmentosa 73
- c.1614-6T>A Single submitter mucopolysaccharidosis type 3C
- c.1614-6T>C Single submitter mucopolysaccharidosis type 3C
- c.1614-7C>T Single submitter mucopolysaccharidosis type 3C
- c.1614-9C>T Single submitter mucopolysaccharidosis type 3C
- c.1726+10C>T Single submitter mucopolysaccharidosis type 3C
- c.1726+13C>T Single submitter mucopolysaccharidosis type 3C
- c.1726+14A>G Single submitter mucopolysaccharidosis type 3C
- c.1726+15A>C Single submitter mucopolysaccharidosis type 3C
- c.1726+15A>G Single submitter mucopolysaccharidosis type 3C
- c.1726+17C>T Single submitter mucopolysaccharidosis type 3C
- c.1726+18T>G Single submitter mucopolysaccharidosis type 3C
- c.1726+22dup Single submitter retinitis pigmentosa 73
- c.1727-11C>G Single submitter mucopolysaccharidosis type 3C
- c.1727-11C>T Single submitter retinitis pigmentosa 73
- c.1727-13C>G Single submitter retinitis pigmentosa 73
- c.1727-14TC[3] Single submitter mucopolysaccharidosis type 3C
- c.1727-15G>A Single submitter retinitis pigmentosa 73
- c.1727-17A>G Single submitter retinitis pigmentosa 73
- c.1727-17A>T Single submitter retinitis pigmentosa 73
- c.1727-19G>C Single submitter retinitis pigmentosa 73
- c.1727-19G>T Single submitter mucopolysaccharidosis type 3C
- c.1727-20T>C Single submitter mucopolysaccharidosis type 3C
- c.1727-4dup Single submitter mucopolysaccharidosis type 3C
- c.1727-5T>A Single submitter mucopolysaccharidosis type 3C
- c.1727-9C>T Single submitter mucopolysaccharidosis type 3C
- c.234+10A>C Single submitter mucopolysaccharidosis type 3C
- c.234+10A>T Single submitter mucopolysaccharidosis type 3C
- c.234+16C>T Single submitter mucopolysaccharidosis type 3C
- c.234+17A>G Single submitter mucopolysaccharidosis type 3C
- c.234+18C>T Single submitter retinitis pigmentosa 73
- c.234+20C>T Single submitter retinitis pigmentosa 73
- c.234+8T>A Single submitter mucopolysaccharidosis type 3C
- c.235-13C>G Single submitter mucopolysaccharidosis type 3C
- c.235-16G>T Single submitter retinitis pigmentosa 73
- c.235-18T>C Single submitter mucopolysaccharidosis type 3C
- c.235-19G>A Single submitter mucopolysaccharidosis type 3C
- c.235-19G>C Single submitter mucopolysaccharidosis type 3C
- c.235-4A>G Single submitter mucopolysaccharidosis type 3C
- c.371+11G>C Single submitter retinitis pigmentosa 73
- c.371+16G>C Single submitter retinitis pigmentosa 73
- c.371+17T>C Single submitter mucopolysaccharidosis type 3C
- c.371+8C>T Single submitter mucopolysaccharidosis type 3C
- c.371+9C>T Single submitter mucopolysaccharidosis type 3C
- c.372-11A>T Single submitter retinitis pigmentosa 73
- c.372-12T>C Single submitter mucopolysaccharidosis type 3C
- c.372-13C>T Single submitter retinitis pigmentosa 73
- c.372-4G>T Single submitter mucopolysaccharidosis type 3C
- c.372-7T>C Single submitter retinitis pigmentosa 73
- c.372-8G>A Single submitter mucopolysaccharidosis type 3C
- c.372-9T>C Single submitter retinitis pigmentosa 73
- c.493+14C>G Single submitter retinitis pigmentosa 73
- c.493+14C>T Single submitter mucopolysaccharidosis type 3C
- c.493+16C>G Single submitter retinitis pigmentosa 73
- c.493+836G>A Single submitter
- c.494-12C>T Single submitter mucopolysaccharidosis type 3C
- c.494-13T>C Single submitter mucopolysaccharidosis type 3C
- c.494-16T>C Single submitter mucopolysaccharidosis type 3C
- c.494-19T>A Single submitter mucopolysaccharidosis type 3C
- c.494-4C>A Single submitter mucopolysaccharidosis type 3C
- c.494-7T>C Single submitter retinitis pigmentosa 73
- c.494-8T>A Single submitter mucopolysaccharidosis type 3C
- c.563+15G>C Single submitter mucopolysaccharidosis type 3C
- c.563+18G>A Single submitter retinitis pigmentosa 73
- c.563+18G>C Single submitter mucopolysaccharidosis type 3C
- c.563+7T>C Single submitter mucopolysaccharidosis type 3C
- c.563+8A>G Single submitter retinitis pigmentosa 73
- c.563+9T>C Single submitter mucopolysaccharidosis type 3C
- c.564-10T>A Single submitter retinitis pigmentosa 73
- c.564-4T>G Single submitter retinitis pigmentosa 73
- c.564-8_564-5del Single submitter retinitis pigmentosa 73
- c.564-8A>G Single submitter retinitis pigmentosa 73
- c.633+10G>A Single submitter mucopolysaccharidosis type 3C
- c.633+13A>G Single submitter mucopolysaccharidosis type 3C
- c.633+17A>G Single submitter retinitis pigmentosa 73
- c.633+19A>G Single submitter mucopolysaccharidosis type 3C
- c.633+9T>C Single submitter retinitis pigmentosa 73
- c.634-16C>T Single submitter retinitis pigmentosa 73
- c.634-18C>G Single submitter mucopolysaccharidosis type 3C
- c.634-20T>G Single submitter retinitis pigmentosa 73
- c.634-8T>A Single submitter mucopolysaccharidosis type 3C
- c.634-9T>C Single submitter mucopolysaccharidosis type 3C
- c.743+10C>T Single submitter mucopolysaccharidosis type 3C
- c.743+13C>G Single submitter retinitis pigmentosa 73
- c.743+17G>A Single submitter retinitis pigmentosa 73
- c.744-10C>A Single submitter mucopolysaccharidosis type 3C
- c.744-15G>T Single submitter mucopolysaccharidosis type 3C
- c.744-16T>C Single submitter retinitis pigmentosa 73
- c.744-18T>A Single submitter retinitis pigmentosa 73
- c.744-19C>G Single submitter retinitis pigmentosa 73
- c.744-20T>G Single submitter retinitis pigmentosa 73
- c.744-4C>G Single submitter mucopolysaccharidosis type 3C
- c.744-5_744-3del Single submitter retinitis pigmentosa 73
- c.744-6T>C Single submitter retinitis pigmentosa 73
- c.820+17A>C Single submitter mucopolysaccharidosis type 3C
- c.820+19G>C Single submitter mucopolysaccharidosis type 3C
- c.820+7T>C Single submitter retinitis pigmentosa 73
- c.821-14T>C Single submitter retinitis pigmentosa 73
- c.821-20G>T Single submitter mucopolysaccharidosis type 3C
- c.821-26G>A Single submitter mucopolysaccharidosis type 3C
- c.821-27T>G Single submitter mucopolysaccharidosis type 3C
- c.821-30T>C Single submitter mucopolysaccharidosis type 3C
- c.821-31C>G Single submitter mucopolysaccharidosis type 3C
- c.821-31C>T Single submitter mucopolysaccharidosis type 3C
- c.821-4G>T Single submitter mucopolysaccharidosis type 3C
- c.821-5del Single submitter mucopolysaccharidosis type 3C
- c.821-9G>A Single submitter mucopolysaccharidosis type 3C
- c.821-9G>C Single submitter retinitis pigmentosa 73
- c.821-9G>T Single submitter mucopolysaccharidosis type 3C
- c.851+10C>G Single submitter retinitis pigmentosa 73
- c.851+11G>C Single submitter retinitis pigmentosa 73
- c.851+16G>C Single submitter mucopolysaccharidosis type 3C
- c.851+16G>T Single submitter retinitis pigmentosa 73
- c.851+17C>T Single submitter mucopolysaccharidosis type 3C
- c.851+18C>A Single submitter mucopolysaccharidosis type 3C
- c.851+19C>A Single submitter mucopolysaccharidosis type 3C
- c.851+19C>G Single submitter mucopolysaccharidosis type 3C
- c.851+19C>T Single submitter mucopolysaccharidosis type 3C
- c.851+23_851+25del Single submitter mucopolysaccharidosis type 3C
- c.851+7T>G Single submitter retinitis pigmentosa 73
- c.852-16A>G Single submitter retinitis pigmentosa 73
Uncertain significance 441
Showing the top 300 by review status; the full set is in the sitemap.
- c.1128+3G>A Multiple submitters retinitis pigmentosa 73
- c.371+5G>T Multiple submitters mucopolysaccharidosis type 3C
- c.493+4C>G Multiple submitters retinitis pigmentosa 73
- c.*390G>A Multiple submitters mucopolysaccharidosis type 3C
- p.Ala10Pro Multiple submitters retinitis pigmentosa 73
- p.Ala154Gly Multiple submitters Inborn genetic diseases
- p.Ala438Thr Multiple submitters retinitis pigmentosa 73
- p.Ala439Gly Multiple submitters retinitis pigmentosa 73
- p.Ala498Pro Multiple submitters inherited retinal dystrophy
- p.Ala617Val Multiple submitters retinitis pigmentosa 73
- p.Ala93Val Multiple submitters Inborn genetic diseases
- p.Arg124Lys Multiple submitters retinitis pigmentosa 73
- p.Arg207Cys Multiple submitters retinitis pigmentosa 73
- p.Arg207His Multiple submitters Inborn genetic diseases
- p.Arg241Cys Multiple submitters mucopolysaccharidosis type 3C
- p.Arg241His Multiple submitters Inborn genetic diseases
- p.Arg303Gln Multiple submitters Inborn genetic diseases
- p.Arg303Trp Multiple submitters mucopolysaccharidosis type 3C
- p.Arg378Thr Multiple submitters Inborn genetic diseases
- p.Arg384Leu Multiple submitters Inborn genetic diseases
- p.Arg45Ser Multiple submitters inherited retinal dystrophy
- p.Arg499Gln Multiple submitters inherited retinal dystrophy
- p.Arg506Gln Multiple submitters mucopolysaccharidosis type 3C
- p.Asp206Asn Multiple submitters mucopolysaccharidosis type 3C
- p.Asp225Glu Multiple submitters retinitis pigmentosa 73
- p.Cys512Ser Multiple submitters Inborn genetic diseases
- p.Gln106Arg Multiple submitters retinitis pigmentosa 73
- p.Glu212Asp Multiple submitters Inborn genetic diseases
- p.Glu363Gly Multiple submitters retinitis pigmentosa 73
- p.Glu465Lys Multiple submitters Inborn genetic diseases
- p.Gly108Arg Multiple submitters Inborn genetic diseases
- p.Gly401Ala Multiple submitters retinitis pigmentosa 73
- p.Gly576Arg Multiple submitters retinitis pigmentosa 73
- p.Gly5Val Multiple submitters Inborn genetic diseases
- p.Ile110Val Multiple submitters Inborn genetic diseases
- p.Ile172Thr Multiple submitters mucopolysaccharidosis type 3C
- p.Ile178Ser Multiple submitters mucopolysaccharidosis type 3C
- p.Ile252_Leu253del Multiple submitters mucopolysaccharidosis type 3C
- p.Ile328del Multiple submitters retinitis pigmentosa 73
- p.Ile328Thr Multiple submitters Inborn genetic diseases
- p.Ile396_Leu399del Multiple submitters retinitis pigmentosa 73
- p.Ile492Val Multiple submitters Inborn genetic diseases
- p.Ile613Met Multiple submitters mucopolysaccharidosis type 3C
- p.Ile613Val Multiple submitters mucopolysaccharidosis type 3C
- p.Ile622Thr Multiple submitters Inborn genetic diseases
- p.Leu11Pro Multiple submitters Inborn genetic diseases
- p.Leu137Val Multiple submitters retinitis pigmentosa 73
- p.Leu280Phe Multiple submitters Inborn genetic diseases
- p.Leu406Phe Multiple submitters retinitis pigmentosa 73
- p.Leu410Met Multiple submitters Inborn genetic diseases
- p.Leu49Met Multiple submitters mucopolysaccharidosis type 3C
- p.Leu599Pro Multiple submitters Inborn genetic diseases
- p.Lys198Asn Multiple submitters mucopolysaccharidosis type 3C
- p.Lys95Thr Multiple submitters retinitis pigmentosa 73
- p.Met254Ile Multiple submitters Inborn genetic diseases
- p.Phe357Ser Multiple submitters Inborn genetic diseases
- p.Phe428Cys Multiple submitters retinitis pigmentosa 73
- p.Pro159Ser Multiple submitters mucopolysaccharidosis type 3C
- p.Pro165Ser Multiple submitters mucopolysaccharidosis type 3C
- p.Pro237Leu Multiple submitters Inborn genetic diseases
- p.Pro37Leu Multiple submitters mucopolysaccharidosis type 3C
- p.Pro422Ser Multiple submitters retinitis pigmentosa 73
- p.Pro575Ala Multiple submitters Inborn genetic diseases
- p.Ser109Tyr Multiple submitters Inborn genetic diseases
- p.Ser234Cys Multiple submitters mucopolysaccharidosis type 3C
- p.Ser271Arg Multiple submitters Inborn genetic diseases
- p.Ser271Asn Multiple submitters mucopolysaccharidosis type 3C
- p.Ser376Leu Multiple submitters mucopolysaccharidosis type 3C
- p.Ser382Cys Multiple submitters mucopolysaccharidosis type 3C
- p.Ser457Phe Multiple submitters mucopolysaccharidosis type 3C
- p.Thr230Ala Multiple submitters mucopolysaccharidosis type 3C
- p.Thr276Ala Multiple submitters mucopolysaccharidosis type 3C
- p.Thr276Arg Multiple submitters mucopolysaccharidosis type 3C
- p.Thr407Ile Multiple submitters mucopolysaccharidosis type 3C
- p.Thr545Met Multiple submitters retinitis pigmentosa 73
- p.Trp231Arg Multiple submitters Inborn genetic diseases
- p.Trp403Cys Multiple submitters HGSNAT-related disorder
- p.Trp619Ser Multiple submitters mucopolysaccharidosis type 3C
- p.Tyr259Cys Multiple submitters Inborn genetic diseases
- p.Tyr419His Multiple submitters retinitis pigmentosa 73
- p.Tyr453del Multiple submitters retinitis pigmentosa 73
- p.Tyr592Cys Multiple submitters retinitis pigmentosa 73
- p.Tyr624Cys Multiple submitters Inborn genetic diseases
- p.Val243Met Multiple submitters Inborn genetic diseases
- p.Val281Met Multiple submitters mucopolysaccharidosis type 3C
- p.Val343Met Multiple submitters retinitis pigmentosa 73
- p.Val348Met Multiple submitters mucopolysaccharidosis type 3C
- p.Val563Gly Multiple submitters Inborn genetic diseases
- p.Val563Met Multiple submitters mucopolysaccharidosis type 3C
- p.Val85Ile Multiple submitters Inborn genetic diseases
- c.1128+5G>C Single submitter
- c.1129-3C>G Single submitter
- c.1250+5G>A Single submitter
- c.1465-10T>C Single submitter mucopolysaccharidosis type 3C
- c.1465-17T>A Single submitter mucopolysaccharidosis type 3C
- c.1465-4_1465-3delinsGA Single submitter mucopolysaccharidosis type 3C
- c.1613+5G>A Single submitter retinitis pigmentosa 73
- c.1727-3A>C Single submitter mucopolysaccharidosis type 3C
- c.234+5G>A Single submitter retinitis pigmentosa 73
- c.371+5G>A Single submitter retinitis pigmentosa 73
- c.493+4C>T Single submitter mucopolysaccharidosis type 3C
- c.563+3A>G Single submitter mucopolysaccharidosis type 3C
- c.743+3A>G Single submitter
- c.743+4T>C Single submitter mucopolysaccharidosis type 3C
- c.820+6A>G Single submitter retinitis pigmentosa 73
- c.-115_-101dupTCAGGCGGCGGTGAC Single submitter
- c.-1C>T Single submitter mucopolysaccharidosis type 3C
- c.-3G>C Single submitter mucopolysaccharidosis type 3C
- c.-5_-4del Single submitter
- c.*1026G>C Single submitter mucopolysaccharidosis type 3C
- c.*1034G>A Single submitter mucopolysaccharidosis type 3C
- c.*1064A>G Single submitter mucopolysaccharidosis type 3C
- c.*1112C>T Single submitter mucopolysaccharidosis type 3C
- c.*1137C>T Single submitter mucopolysaccharidosis type 3C
- c.*1204C>A Single submitter mucopolysaccharidosis type 3C
- c.*1214C>A Single submitter mucopolysaccharidosis type 3C
- c.*1215C>T Single submitter mucopolysaccharidosis type 3C
- c.*1219G>A Single submitter mucopolysaccharidosis type 3C
- c.*1251C>A Single submitter mucopolysaccharidosis type 3C
- c.*1331T>A Single submitter mucopolysaccharidosis type 3C
- c.*1378C>T Single submitter mucopolysaccharidosis type 3C
- c.*1436A>G Single submitter mucopolysaccharidosis type 3C
- c.*149G>T Single submitter mucopolysaccharidosis type 3C
- c.*1584A>G Single submitter mucopolysaccharidosis type 3C
- c.*160C>T Single submitter mucopolysaccharidosis type 3C
- c.*1696T>G Single submitter mucopolysaccharidosis type 3C
- c.*1750C>T Single submitter mucopolysaccharidosis type 3C
- c.*1841G>A Single submitter mucopolysaccharidosis type 3C
- c.*1854C>T Single submitter mucopolysaccharidosis type 3C
- c.*1925A>G Single submitter mucopolysaccharidosis type 3C
- c.*196T>G Single submitter mucopolysaccharidosis type 3C
- c.*2068A>G Single submitter mucopolysaccharidosis type 3C
- c.*2233G>A Single submitter mucopolysaccharidosis type 3C
- c.*2266G>T Single submitter mucopolysaccharidosis type 3C
- c.*2305A>G Single submitter mucopolysaccharidosis type 3C
- c.*2341G>A Single submitter mucopolysaccharidosis type 3C
- c.*2434G>A Single submitter mucopolysaccharidosis type 3C
- c.*2472G>C Single submitter mucopolysaccharidosis type 3C
- c.*2502A>G Single submitter mucopolysaccharidosis type 3C
- c.*2538A>G Single submitter mucopolysaccharidosis type 3C
- c.*2591G>A Single submitter mucopolysaccharidosis type 3C
- c.*2620A>C Single submitter mucopolysaccharidosis type 3C
- c.*2643G>A Single submitter mucopolysaccharidosis type 3C
- c.*2756G>A Single submitter mucopolysaccharidosis type 3C
- c.*2801C>G Single submitter mucopolysaccharidosis type 3C
- c.*2806G>C Single submitter mucopolysaccharidosis type 3C
- c.*2950A>G Single submitter mucopolysaccharidosis type 3C
- c.*2967C>T Single submitter mucopolysaccharidosis type 3C
- c.*304C>A Single submitter mucopolysaccharidosis type 3C
- c.*3086C>T Single submitter mucopolysaccharidosis type 3C
- c.*3176G>A Single submitter mucopolysaccharidosis type 3C
- c.*3198G>A Single submitter mucopolysaccharidosis type 3C
- c.*3241A>G Single submitter mucopolysaccharidosis type 3C
- c.*574C>G Single submitter mucopolysaccharidosis type 3C
- c.*581T>C Single submitter mucopolysaccharidosis type 3C
- c.*612A>C Single submitter mucopolysaccharidosis type 3C
- c.*619T>C Single submitter mucopolysaccharidosis type 3C
- c.*649A>G Single submitter mucopolysaccharidosis type 3C
- c.*772C>G Single submitter mucopolysaccharidosis type 3C
- c.*778T>C Single submitter mucopolysaccharidosis type 3C
- c.*851A>G Single submitter mucopolysaccharidosis type 3C
- c.*857C>T Single submitter mucopolysaccharidosis type 3C
- c.*871C>A Single submitter mucopolysaccharidosis type 3C
- p.Ala15_Ala24del Single submitter mucopolysaccharidosis type 3C
- p.Ala150Thr Single submitter inherited retinal dystrophy
- p.Ala15Leu Single submitter mucopolysaccharidosis type 3C
- p.Ala20Val Single submitter Inborn genetic diseases
- p.Ala229Thr Single submitter mucopolysaccharidosis type 3C
- p.Ala235Ser Single submitter
- p.Ala235Val Single submitter retinitis pigmentosa 73
- p.Ala250Thr Single submitter retinitis pigmentosa 73
- p.Ala278Thr Single submitter
- p.Ala33Val Single submitter retinitis pigmentosa 73
- p.Ala35Thr Single submitter Inborn genetic diseases
- p.Ala367Thr Single submitter mucopolysaccharidosis type 3C
- p.Ala438Val Single submitter mucopolysaccharidosis type 3C
- p.Ala483Ser Single submitter mucopolysaccharidosis type 3C
- p.Ala489Val Single submitter
- p.Ala498Gly Single submitter Inborn genetic diseases
- p.Ala4delinsArgArgAlaTer Single submitter Inborn genetic diseases
- p.Ala4Thr Single submitter Inborn genetic diseases
- p.Ala54Asp Single submitter
- p.Ala7Val Single submitter
- p.Ala93Gly Single submitter retinitis pigmentosa 73
- p.Arg218Gly Single submitter inherited retinal dystrophy
- p.Arg218Lys Single submitter retinitis pigmentosa 73
- p.Arg232His Single submitter mucopolysaccharidosis type 3C
- p.Arg239Leu Single submitter
- p.Arg241Leu Single submitter
- p.Arg247Thr Single submitter
- p.Arg317Ser Single submitter retinitis pigmentosa 73
- p.Arg344Gly Single submitter
- p.Arg351Gln Single submitter mucopolysaccharidosis type 3C
- p.Arg351Leu Single submitter mucopolysaccharidosis type 3C
- p.Arg378Ser Single submitter retinitis pigmentosa 73
- p.Arg378Trp Single submitter mucopolysaccharidosis type 3C
- p.Arg384Gly Single submitter
- p.Arg39= Single submitter retinitis pigmentosa 73
- p.Arg39Leu Single submitter
- p.Arg444del Single submitter
- p.Arg444Gly Single submitter retinitis pigmentosa 73
- p.Arg444His Single submitter Inborn genetic diseases
- p.Arg444Leu Single submitter Inborn genetic diseases
- p.Arg506Gly Single submitter retinitis pigmentosa 73
- p.Asn134Lys Single submitter mucopolysaccharidosis type 3C
- p.Asn141Ser Single submitter Inborn genetic diseases
- p.Asn156Ser Single submitter retinitis pigmentosa 73
- p.Asn194His Single submitter mucopolysaccharidosis type 3C
- p.Asn332Asp Single submitter retinitis pigmentosa 73
- p.Asn478Ser Single submitter retinitis pigmentosa 73
- p.Asn478Thr Single submitter retinitis pigmentosa 73
- p.Asn534Ile Single submitter mucopolysaccharidosis type 3C
- p.Asn591Thr Single submitter retinitis pigmentosa 73
- p.Asn602Ser Single submitter mucopolysaccharidosis type 3C
- p.Asn66_Leu67insSer Single submitter mucopolysaccharidosis type 3C
- p.Asp161Tyr Single submitter
- p.Asp220Gly Single submitter mucopolysaccharidosis type 3C
- p.Asp223His Single submitter mucopolysaccharidosis type 3C
- p.Asp32Glu Single submitter mucopolysaccharidosis type 3C
- p.Asp32Gly Single submitter Inborn genetic diseases
- p.Asp385Glu Single submitter mucopolysaccharidosis type 3C
- p.Asp40His Single submitter mucopolysaccharidosis type 3C
- p.Asp450Asn Single submitter inherited retinal dystrophy
- p.Asp52Asn Single submitter mucopolysaccharidosis type 3C
- p.Asp601His Single submitter mucopolysaccharidosis type 3C
- p.Cys151Ser Single submitter mucopolysaccharidosis type 3C
- p.Cys511Tyr Single submitter retinitis pigmentosa 73
- p.Cys79Arg Single submitter mucopolysaccharidosis type 3C
- p.Gln227Arg Single submitter retinitis pigmentosa 73
- p.Gln302His Single submitter mucopolysaccharidosis type 3C
- p.Gln392Leu Single submitter retinitis pigmentosa 73
- p.Gln454His Single submitter Inborn genetic diseases
- p.Gln488Arg Single submitter mucopolysaccharidosis type 3C
- p.Gln596Ter Single submitter mucopolysaccharidosis type 3C
- p.Gln603Lys Single submitter
- p.Glu119Asp Single submitter Inborn genetic diseases
- p.Glu148Asp Single submitter mucopolysaccharidosis type 3C
- p.Glu157Lys Single submitter mucopolysaccharidosis type 3C
- p.Glu212= Single submitter inherited retinal dystrophy
- p.Glu372Asp Single submitter Inborn genetic diseases
- p.Glu48Lys Single submitter retinitis pigmentosa 73
- p.Glu590Lys Single submitter mucopolysaccharidosis type 3C
- p.Gly173Ser Single submitter mucopolysaccharidosis type 3C
- p.Gly248Glu Single submitter retinitis pigmentosa 73
- p.Gly248Val Single submitter mucopolysaccharidosis type 3C
- p.Gly260Arg Single submitter mucopolysaccharidosis type 3C
- p.Gly261Glu Single submitter
- p.Gly274Ala Single submitter mucopolysaccharidosis type 3C
- p.Gly274Arg Single submitter inherited retinal dystrophy
- p.Gly30Ala Single submitter mucopolysaccharidosis type 3C
- p.Gly30Glu Single submitter mucopolysaccharidosis type 3C
- p.Gly312= Single submitter mucopolysaccharidosis type 3C
- p.Gly336Cys Single submitter mucopolysaccharidosis type 3C
- p.Gly336Ser Single submitter mucopolysaccharidosis type 3C
- p.Gly3Ala Single submitter mucopolysaccharidosis type 3C
- p.Gly424Asp Single submitter mucopolysaccharidosis type 3C
- p.Gly437Arg Single submitter mucopolysaccharidosis type 3C
- p.Gly486Arg Single submitter retinitis pigmentosa 73
- p.Gly486Val Single submitter mucopolysaccharidosis type 3C
- p.Gly490Arg Single submitter
- p.Gly569_Thr570insGly Single submitter inherited retinal dystrophy
- p.Gly585Arg Single submitter retinitis pigmentosa 73
- p.Gly585Asp Single submitter
- p.Gly585Ser Single submitter retinitis pigmentosa 73
- p.His46Leu Single submitter retinitis pigmentosa 73
- p.His78= Single submitter mucopolysaccharidosis type 3C
- p.His78Asn Single submitter
- p.His78Asp Single submitter mucopolysaccharidosis type 3C
- p.Ile149Thr Single submitter retinitis pigmentosa 73
- p.Ile177Met Single submitter retinitis pigmentosa 73
- p.Ile180Met Single submitter mucopolysaccharidosis type 3C
- p.Ile200Lys Single submitter mucopolysaccharidosis type 3C
- p.Ile300Met Single submitter retinitis pigmentosa 73
- p.Ile314Val Single submitter mucopolysaccharidosis type 3C
- p.Ile345Val Single submitter mucopolysaccharidosis type 3C
- p.Ile477Met Single submitter Inborn genetic diseases
- p.Ile492Thr Single submitter Inborn genetic diseases
- p.Ile513Thr Single submitter
- p.Ile531Leu Single submitter mucopolysaccharidosis type 3C
- p.Ile58Met Single submitter mucopolysaccharidosis type 3C
- p.Ile622Val Single submitter mucopolysaccharidosis type 3C
- p.Ile631Thr Single submitter mucopolysaccharidosis type 3C
- p.Leu11_Ala15del Single submitter mucopolysaccharidosis type 3C
- p.Leu11_Ser16delinsPro Single submitter
- p.Leu111Pro Single submitter
- p.Leu113Pro Single submitter mucopolysaccharidosis type 3C
- p.Leu117Val Single submitter retinitis pigmentosa 73
- p.Leu125= Single submitter mucopolysaccharidosis type 3C
- p.Leu137Phe Single submitter mucopolysaccharidosis type 3C
- p.Leu153Pro Single submitter mucopolysaccharidosis type 3C
- p.Leu164Phe Single submitter mucopolysaccharidosis type 3C
- p.Leu183Arg Single submitter mucopolysaccharidosis type 3C
- p.Leu187Val Single submitter mucopolysaccharidosis type 3C
- p.Leu18Val Single submitter retinitis pigmentosa 73
- p.Leu222Phe Single submitter retinitis pigmentosa 73
- p.Leu22Val Single submitter mucopolysaccharidosis type 3C
- p.Leu253Val Single submitter mucopolysaccharidosis type 3C
- p.Leu335Phe Single submitter mucopolysaccharidosis type 3C
- p.Leu338Val Single submitter mucopolysaccharidosis type 3C
- p.Leu352Trp Single submitter