Unique variants in the HGSNAT gene

Information The variants shown are described using the NM_152419.2 transcript reference sequence.

126 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     
+/. 2 1 c.1-1925_118+296del r.0? p.0? - pathogenic g.42993715_42996053del g.43138572_43140910del c.202+1G>A - HGSNAT_000046 - PubMed: Feldhammer 2009 - - Germline - - - - - Stéphanie Durand
-?/. 1 - c.63G>A r.(?) p.(Ala21=) - likely benign g.42995702G>A g.43140559G>A HGSNAT(NM_152419.2):c.63G>A (p.A21=) - HGSNAT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.73C>G r.(?) p.(Pro25Ala) - likely benign g.42995712C>G - HGSNAT(NM_001363227.1):c.73C>G (p.P25A) - HGSNAT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.108G>A r.(?) p.(Ala36=) - benign, likely benign g.42995747G>A g.43140604G>A HGSNAT(NM_001363227.1):c.108G>A (p.A36=), HGSNAT(NM_152419.2):c.108G>A (p.A36=) - HGSNAT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 1i c.118+1G>A r.spl? p.? - pathogenic g.42995758G>A g.43140615G>A c.202+1G>A - HGSNAT_000006 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
-?/. 1 - c.118+10C>A r.(=) p.(=) - likely benign g.42995767C>A - HGSNAT(NM_152419.2):c.118+10C>A - HGSNAT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 2 c.164T>A r.(?) p.(Leu55*) - pathogenic (recessive) g.43002136T>A g.43146993T>A - - HGSNAT_000082 2/11 MPSIIIC alleles in Paraiba, 2/23 alleles in Brazil, 1 more item PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - - - Carla Martins
?/. 1 - c.205G>A r.(?) p.(Val69Ile) - VUS g.43002177G>A g.43147034G>A - - HGSNAT_000093 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs202001245 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/+ 1 2 c.227G>T r.(?) p.(Cys76Phe) - pathogenic g.43002199G>T g.43147056G>T c.311G>T - HGSNAT_000017 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/., +?/. 13 2i c.234+1G>A r.spl, r.spl? p.(Asp40Valfs*19), p.? - likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.43002207G>A g.43147064G>A c.318+1G>A, HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland PubMed: Fedele 2007, PubMed: Feldhammer 2009, PubMed: Grozeva 2015, Journal: Grozeva 2015, 4 more items 30832 rs483352908 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, Stéphanie Durand, VKGL-NL_Nijmegen, Carla Martins
?/. 1 - c.259G>A r.(?) p.(Val87Ile) - VUS g.43013742G>A g.43158599G>A - - HGSNAT_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs374287774 Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/., ?/. 2 - c.259G>T r.(?) p.(Val87Phe) - likely pathogenic, VUS g.43013742G>T g.43158599G>T HGSNAT(NM_001363227.1):c.259G>T (p.V87F) - HGSNAT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.342C>T r.(?) p.(Asn114=) - likely benign g.43013825C>T g.43158682C>T HGSNAT(NM_152419.2):c.342C>T (p.N114=) - HGSNAT_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 - c.370A>T r.(?), r.spl, r.[235_371del,370a>u] p.(Arg124Trp), p.(Cys79Valfs*20), p.[Cys79Valfs*20,Arg124Trp) ACMG pathogenic, pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019, PubMed: Sharon 2019 - - Germline yes 5/2420 IRD families - - - Global Variome, with Curator vacancy, Johan den Dunnen
+/., +?/. 6 3i c.372-2A>G r.(?), r.spl p.(?), p.?, p.[(Arg124Serfs*27,Leu125_Arg128del)] - likely pathogenic, pathogenic, pathogenic (recessive) g.43014064A>G g.43158921A>G 1 more item - HGSNAT_000042 compound heterozygous PubMed: Coutinho 2008, PubMed: Martin Merida 2019, PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline, Germline/De novo (untested) ? - - - - Stéphanie Durand, Carla Martins
+?/. 1 - c.398G>C r.(?) p.(Gly133Ala) - pathogenic (recessive) g.43014092G>C g.43158949G>C - - HGSNAT_000125 - PubMed: Haer-Wigman 2015 - - Germline - - - - - Johan den Dunnen
+/+, +?/. 3 4 c.410T>C r.(?) p.(Leu137Pro) - likely pathogenic, pathogenic g.43014104T>C g.43158961T>C HGSNAT(NM_152419.2):c.410T>C (p.L137P) - HGSNAT_000036 VKGL data sharing initiative Nederland PubMed: Fedele 2007; PubMed: Ruijter 2008, PubMed: Feldhammer 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Stéphanie Durand
-/. 1 - c.468C>T r.(?) p.(Asn156=) - benign g.43014162C>T g.43159019C>T HGSNAT(NM_152419.2):c.468C>T (p.N156=) - HGSNAT_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.479T>C r.(?) p.(Val160Ala) - likely benign g.43014173T>C g.43159030T>C HGSNAT(NM_152419.2):c.479T>C (p.V160A) - HGSNAT_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.493C>T r.(?) p.(Pro165Ser) - VUS g.43014187C>T g.43159044C>T - - HGSNAT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Fan 2006, PubMed: Feldhammer 2009, PubMed: Hrebicek 2006 - - Germline - - -BsiWI - - Stéphanie Durand
+/., ?/. 3 4i c.493+5G>A r.372_493del, r.spl? p.(Arg124Serfs*25), p.? - pathogenic (recessive), VUS g.43014192G>A g.43159049G>A HGSNAT(NM_152419.2):c.493+5G>A - HGSNAT_000060 VKGL data sharing initiative Nederland Fadaie 2021, submitted - - CLASSIFICATION record, Germline no - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, Zeinab Fadaie
+/. 1 4i c.494-1G>A r.spl p.[(P165_L187delinsQSCYVTQAGVRWHHLGSLQALPPGFTPFSYLSLLSSWNC,P165fs)] - pathogenic (recessive) g.43016580G>A g.43161437G>A - - HGSNAT_000089 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - - - Carla Martins
+/. 1 5 c.518G>A r.(?) p.(Gly173Asp) - pathogenic (recessive) g.43016605G>A g.43161462G>A - - HGSNAT_000088 - PubMed: Martins 2019, Journal: Martins 2019 - rs370717845 Germline - - - - - Carla Martins
+/., +?/. 7 5 c.525dup r.(?) p.(Val176Cysfs*16), p.(Val176CysfsTer16) - pathogenic, pathogenic (recessive) g.43016612dup g.43161469dup - - HGSNAT_000043, HGSNAT_000087 2/11 MPSIIIC alleles in Paraiba, 2/23 MPSIIIC alleles in Brazil PubMed: Coutinho 2008, PubMed: Hrebicek 2006, PubMed: Martins 2019, Journal: Martins 2019 - rs483352895 Germline - - - - - Stéphanie Durand, Carla Martins
-/. 3 - c.564-98T>C r.(=) p.(=) - benign g.43024218T>C g.43169075T>C - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - - - Carla Martins
+/. 1 - c.582delinsCCC r.(?) p.(Trp195ProfsTer7) - pathogenic g.43024334delinsCCC g.43169191delinsCCC HGSNAT(NM_152419.2):c.582delTinsCCC (p.W195Pfs*7) - HGSNAT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 6 c.607C>T r.(?) p.(Arg203*), p.(Arg203Ter) - pathogenic g.43024359C>T g.43169216C>T HGSNAT(NM_152419.2):c.607C>T (p.R203*) - HGSNAT_000034 VKGL data sharing initiative Nederland PubMed: Ruijter 2008 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Stéphanie Durand
+/. 1 6i_8i c.634-408_820+338delinsAGAATATG r.(634_820del) p.(Glu212Glyfs*2) - pathogenic (recessive) g.43025320_43027867delinsAGAATATG g.43170177_43172724delinsAGAATATG - - HGSNAT_000123 - PubMed: Van Cauwenbergh 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 7 c.641delG r.(?) p.? - pathogenic g.? - - - HGSNAT_000050 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
?/. 1 - c.652A>G r.(?) p.(Arg218Gly) - VUS g.43025746A>G g.43170603A>G - - HGSNAT_000095 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs541981232 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 7 c.682_740del r.(?) p.(Pro228GlyfsTer32) - pathogenic g.43025776_43025834del g.43170633_43170691del - - HGSNAT_000030 - PubMed: Fedele 2007 - - Germline - - - - - Stéphanie Durand
-?/. 1 - c.688A>G r.(?) p.(Thr230Ala) - likely benign g.43025782A>G g.43170639A>G HGSNAT(NM_001363227.1):c.688A>G (p.T230A) - HGSNAT_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.689C>T r.(?) p.(Thr230Met) - VUS g.43025783C>T g.43170640C>T - - HGSNAT_000096 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs200416815 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/., ?/-, ?/. 8 7 c.710C>A r.(?) p.(Pro237Gln) - likely pathogenic (recessive), VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Feldhammer 2009, PubMed: Grozeva 2015, Journal: Grozeva 2015, PubMed: Hrebicek 2006, 2 more items - - Germline - - - - - Johan den Dunnen, Stéphanie Durand, Carla Martins
?/. 1 - c.728T>C r.(?) p.(Val243Ala) - VUS g.43025822T>C - HGSNAT(NM_152419.3):c.728T>C - HGSNAT_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 7 c.739del r.(?) p.(Arg247GlyfsTer29) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 c.739delA from Italian mother, c.1516C>T from Belgian father PubMed: Fedele 2007, PubMed: Feldhammer 2009, PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/. 2 7i c.743+1dup r.spl, r.spl? p.(Ile249AspfsTer31), p.? - pathogenic g.43025838dup g.43170695dup HGSNAT(NM_152419.2):c.743_743+1insG - HGSNAT_000033, HGSNAT_000062 VKGL data sharing initiative Nederland PubMed: Ruijter 2008 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Stéphanie Durand
+/. 1 7i c.744-2A>G r.spl p.? - pathogenic g.43027451A>G g.43172308A>G - - HGSNAT_000051 - PubMed: Feldhammer 2009 - - Germline - - - - - Stéphanie Durand
-/. 1 - c.765C>T r.(?) p.(Val255=) - benign g.43027474C>T g.43172331C>T HGSNAT(NM_152419.2):c.765C>T (p.V255=) - HGSNAT_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 5 8 c.773A>T r.(?) p.(Asn258Ile) - pathogenic (recessive) g.43027482A>T g.43172339A>T - - HGSNAT_000086 7/11 MPSIIIC alleles in Paraiba, 7/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - - - Carla Martins
-/. 1 - c.780A>C r.(?) p.(Gly260=) - benign g.43027489A>C g.43172346A>C HGSNAT(NM_152419.2):c.780A>C (p.G260=) - HGSNAT_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 8 c.784G>A r.(?) p.(Gly262Arg) - pathogenic g.43027493G>A g.43172350G>A - - HGSNAT_000038 - PubMed: Ruijter 2008 - - Germline - - - - - Stéphanie Durand
?/. 1 - c.801C>G r.(?) p.(Phe267Leu) - VUS g.43027510C>G g.43172367C>G - - HGSNAT_000097 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/+ 1 8 c.819T>G r.(?) p.(Asn273Lys) - pathogenic g.43027528T>G g.43172385T>G - - HGSNAT_000039 - PubMed: Ruijter 2008 - - Germline - - - - - Stéphanie Durand
?/. 1 - c.820G>C r.(?) p.(Gly274Arg) - VUS g.43027529G>C g.43172386G>C - - HGSNAT_000098 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 1 - c.833C>T r.(?) p.(Ala278Val) - likely pathogenic g.43028868C>T g.43173725C>T HGSNAT(NM_152419.3):c.833C>T (p.A278V) - HGSNAT_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 9 c.836A>C r.(?) p.(Asp279Ala) - VUS g.43028871A>C g.43173728A>C - - HGSNAT_000138 - PubMed: Ganapathy 2019 ClinVar-RCV000488421.1 rs1085307112 Germline - - - - - Johan den Dunnen
+/+, +/. 7 9 c.848C>T r.(?) p.(Pro283Leu) - pathogenic, pathogenic (recessive) g.43028883C>T g.43173740C>T 8:43028883C>T ENST00000379644.4:c.848C>T (Pro283Leu), c.932C>T, 1 more item - HGSNAT_000003 VKGL data sharing initiative Nederland PubMed: Carss 2017, PubMed: Feldhammer 2009, PubMed: Hrebicek 2006, 2 more items 1232 rs121908282 CLASSIFICATION record, Germline - 2/1204 cases with retinitis pigmentosa - - - VKGL-NL_Rotterdam, Stéphanie Durand, Yoshito Koyanagi, Carla Martins
+/. 1 9i c.851+5G>A r.spl? p.(Phe285*) - pathogenic g.43028891G>A g.43173748G>A c.935+5G>A - HGSNAT_000008 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/. 1 - c.852-2A>C r.spl? p.? - pathogenic g.43033215A>C - HGSNAT(NM_152419.2):c.852-2A>C - HGSNAT_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +?/. 5 9i c.852-1G>A r.spl p.(Trp284*), p.? - pathogenic, pathogenic (recessive) g.43033216G>A g.43178073G>A - - HGSNAT_000028 - PubMed: Fedele 2007, PubMed: Feldhammer 2009, PubMed: Martins 2019, Journal: Martins 2019 556501 rs1447092074 Germline - - - - - Stéphanie Durand, Carla Martins
?/. 1 - c.852G>T r.(?) p.(Trp284Cys) - VUS g.43033217G>T g.43178074G>T - - HGSNAT_000129 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen
?/. 1 - c.868G>A r.(?) p.(Gly290Arg) - VUS g.43033233G>A g.43178090G>A HGSNAT(NM_152419.2):c.868G>A (p.G290R) - HGSNAT_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.887C>A r.(?) p.(Ser296*) - pathogenic g.43033252C>A g.43178109C>A - - HGSNAT_000047 - PubMed: Feldhammer 2009 - - Germline - - - - - Stéphanie Durand
-?/. 1 - c.888G>A r.(?) p.(Ser296=) - likely benign g.43033253G>A g.43178110G>A HGSNAT(NM_152419.2):c.888G>A (p.S296=) - HGSNAT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.928T>C r.(?) p.(Leu310=) - benign g.43033293T>C g.43178150T>C HGSNAT(NM_152419.2):c.928T>C (p.L310=) - HGSNAT_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 10 c.947G>A r.(?) p.(Trp316*) - pathogenic g.43033312G>A g.43178169G>A c.1031G>A - HGSNAT_000014 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/. 1 - c.953G>A r.(?) p.(Ser318Asn) - pathogenic g.43033318G>A g.43178175G>A - - HGSNAT_000137 - PubMed: Comander 2017 - - Germline - - - - - LOVD
+/. 1 10 c.962T>G r.(?) p.(Leu321*) - pathogenic g.43033327T>G g.43178184T>G c.1046T>G - HGSNAT_000004 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+?/. 1 11 c.1019G>A r.(?) p.(Trp340Ter) - likely pathogenic g.43037294G>A g.43182151G>A - - HGSNAT_000139 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/+, +/. 17 11 c.1030C>T r.(?), r.1030c>u p.(Arg344Cys) - pathogenic, pathogenic (recessive) g.43037305C>T g.43182162C>T c.1114C>T, HGSNAT(NM_152419.2):c.1030C>T (p.R344C) - HGSNAT_000018 VKGL data sharing initiative Nederland Fadaie 2021, submitted, PubMed: Feldhammer 2009, PubMed: Hrebicek 2006, PubMed: Ruijter 2008, 1 more item 1237 rs121908285 CLASSIFICATION record, Germline no - - - - VKGL-NL_Rotterdam, Stéphanie Durand, VKGL-NL_Nijmegen, VKGL-NL_AMC, Carla Martins, Zeinab Fadaie
+/+ 4 11 c.1031G>A r.(?) p.(Arg344His) - pathogenic g.43037306G>A g.43182163G>A c.1115G>A - HGSNAT_000019 - PubMed: Feldhammer 2009, PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/. 1 11 c.1034_1049del r.(?) p.(Ile345SerfsTer5) - pathogenic g.43037309_43037324del g.43182166_43182181del c.1118_1133del - HGSNAT_000011 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/. 1 - c.1048C>T r.(?) p.(Gln350*) - pathogenic g.43037323C>T g.43182180C>T - - HGSNAT_000099 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs752939204 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.1086G>A r.(?) p.(Leu362=) - likely benign g.43037361G>A g.43182218G>A HGSNAT(NM_152419.2):c.1086G>A (p.L362=) - HGSNAT_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1091T>C r.(?) p.(Leu364Pro) - VUS g.43037366T>C g.43182223T>C HGSNAT(NM_152419.2):c.1091T>C (p.L364P) - HGSNAT_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1129-7C>T r.(=) p.(=) - benign g.43046610C>T g.43191467C>T HGSNAT(NM_152419.2):c.1129-7C>T - HGSNAT_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 13 12 c.1150C>T r.(?) p.(Arg384*), p.(Arg384Ter) - pathogenic g.43046638C>T g.43191495C>T c.1234C>T, HGSNAT(NM_152419.2):c.1150C>T (p.R384*) - HGSNAT_000015 VKGL data sharing initiative Nederland PubMed: Fedele 2007, PubMed: Feldhammer 2009, PubMed: Hrebicek 2006, PubMed: Ruijter 2008, 1 more item - - CLASSIFICATION record, Germline - - - - - Stéphanie Durand, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1160C>T r.(?) p.(Thr387Met) - likely benign g.43046648C>T g.43191505C>T HGSNAT(NM_152419.2):c.1160C>T (p.T387M) - HGSNAT_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 6 12 c.1209G>A r.(?) p.(Trp403*) - pathogenic, pathogenic (recessive) g.43046697G>A g.43191554G>A c.1209G>A - HGSNAT_000055 - PubMed: Ouesleti 2011, PubMed: Ousleti-2011 - - Germline yes - - - - Johan den Dunnen, Soumeya Bekri
+/+ 2 12 c.1209G>T r.(?) p.(Trp403Cys) - pathogenic g.43046697G>T g.43191554G>T c.1293G>T - HGSNAT_000020 - PubMed: Feldhammer 2009, PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
?/. 1 - c.1228C>A r.(?) p.(Leu410Met) - VUS g.43046716C>A g.43191573C>A HGSNAT(NM_152419.2):c.1228C>A (p.L410M) - HGSNAT_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1237C>T r.(?) p.(Pro413Ser) - VUS g.43046725C>T g.43191582C>T HGSNAT(NM_001363227.1):c.1237C>T (p.P413S), HGSNAT(NM_152419.2):c.1237C>T (p.P413S) - HGSNAT_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/., ?/. 2 - c.1250C>T r.(?) p.(Thr417Ile) - likely benign, VUS g.43046738C>T - HGSNAT(NM_001363227.2):c.1250C>T (p.T417I), HGSNAT(NM_152419.2):c.1250C>T (p.T417I) - HGSNAT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/., +?/. 4 12i c.1250+1G>A r.spl p.(Gly418*), p.? - pathogenic, pathogenic (recessive) g.43046739G>A g.43191596G>A c.1334+1G>A - HGSNAT_000009 - PubMed: Feldhammer 2009, PubMed: Hrebicek 2006, PubMed: Martins 2019, Journal: Martins 2019 96500 rs398124544 Germline - - - - - Stéphanie Durand, Carla Martins
+/. 1 12i c.1250+2T>C r.spl? p.? - pathogenic g.43046740T>C g.43191597T>C - - HGSNAT_000044 - PubMed: Feldhammer 2009 - - Germline - - - - - Stéphanie Durand
?/. 1 - c.1256A>G r.(?) p.(Tyr419Cys) - VUS g.43047452A>G g.43192309A>G HGSNAT(NM_152419.2):c.1256A>G (p.Y419C) - HGSNAT_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 13 c.1267G>T r.(?) p.(Gly423Trp) - pathogenic (recessive) g.43047463G>T g.43192320G>T - - HGSNAT_000085 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - - - Carla Martins
+/+ 1 13 c.1270G>A r.(?) p.(Gly424Ser) - pathogenic g.43047466G>A g.43192323G>A c.1354G>A - HGSNAT_000021 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
?/. 1 - c.1270G>T r.(?) p.(Gly424Cys) - VUS g.43047466G>T - - - HGSNAT_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 11, 13 c.1271dup r.(?) p.(Ile425Hisfs*45), p.(Ile425HisfsTer45) - pathogenic, pathogenic (recessive) g.43047467dup g.43192324dup 1271dupG - HGSNAT_000052, HGSNAT_000090 - PubMed: Feldhammer 2009, PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - - - Stéphanie Durand, Carla Martins
?/. 1 - c.1283T>G r.(?) p.(Phe428Cys) - VUS g.43047479T>G - HGSNAT(NM_001363227.1):c.1283T>G (p.F428C) - HGSNAT_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1312G>A r.(?) p.(Ala438Thr) - VUS g.43047508G>A g.43192365G>A - - HGSNAT_000100 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201901263 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1330C>T r.(?) p.(Arg444Cys) - VUS g.43047526C>T g.43192383C>T HGSNAT(NM_152419.2):c.1330C>T (p.(Arg444Cys)) - HGSNAT_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 13 c.1342_1377+1dup r.(?) p.(Val460GlyfsTer22) - pathogenic g.43047538_43047574dup g.43192395_43192431dup c.1420_1456dup - HGSNAT_000012 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/., +?/. 2 13 c.1345dup r.(?) p.(Asp449Glyfs*21), p.(Asp449GlyfsTer21) - pathogenic, pathogenic (recessive) g.43047541dup g.43192398dup 1345dupG - HGSNAT_000002, HGSNAT_000091 - PubMed: Fan 2006, PubMed: Martins 2019, Journal: Martins 2019 1231 rs483352894 Germline - - - - - Stéphanie Durand, Carla Martins
+?/. 2 13 c.1348del r.(?) p.(Asp450Ilefs*32) - pathogenic (recessive) g.43047544del g.43192401del - - HGSNAT_000084 4/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - rs771455190 Germline - - - - - Carla Martins
?/. 1 - c.1348G>A r.(?) p.(Asp450Asn) - VUS g.43047544G>A g.43192401G>A - - HGSNAT_000101 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 3 - c.1377+20G>A r.(=) p.(=) - benign g.43047593G>A g.43192450G>A HGSNAT(NM_152419.2):c.1377+20G>A - HGSNAT_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+ 4 14 c.1411G>A r.(?) p.(Glu471Lys) - pathogenic g.43048933G>A g.43193790G>A c.1495G>A - HGSNAT_000022 - PubMed: Feldhammer 2009, PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - - Germline - - - - - Stéphanie Durand
?/- 1 14 c.1441G>T r.(?) p.(Val481Leu) - VUS g.43048963G>T g.43193820G>T - - HGSNAT_000048 - PubMed: Feldhammer 2009 - - Germline - - - - - Stéphanie Durand
+/+ 1 14 c.1445T>A r.(?) p.(Met482Lys) - pathogenic g.43048967T>A g.43193824T>A c.1529T>A - HGSNAT_000005 - PubMed: Hrebicek 2006 - - Germline - - - - - Stéphanie Durand
+/. 1 14 c.1457G>A r.(?) p.(G486Glu) - pathogenic g.43048979G>A g.43193836G>A - - HGSNAT_000054 - PubMed: Feldhammer 2009 - - Germline - - - - - Stéphanie Durand
+/. 2 14i c.1464+1G>A r.spl p.? - pathogenic g.43048987G>A g.43193844G>A - - HGSNAT_000029 - PubMed: Comander 2017, PubMed: Fedele 2007 - - Germline - - - - - Stéphanie Durand
-?/. 1 - c.1465-473T>C r.(=) p.(=) - likely benign g.43051618T>C - HGSNAT(NM_152419.2):c.1465-473T>C - HGSNAT_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 15 c.1466C>A r.(?) p.(Ala489Glu) - pathogenic, pathogenic (recessive) g.43052092C>A g.43196949C>A - - HGSNAT_000049 - PubMed: Feldhammer 2009, PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - - - Stéphanie Durand, Carla Martins
+/., +?/. 2 15 c.1479dup r.(?) p.(Leu494Ilefs*33), p.(Leu494IlefsTer33) - pathogenic, pathogenic (recessive) g.43052105dup g.43196961dup, g.43196962dup HGSNAT(NM_152419.2):c.1479dupA (p.L494Ifs*33) - HGSNAT_000083 VKGL data sharing initiative Nederland, 1 more item PubMed: Martins 2019, Journal: Martins 2019 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Carla Martins
?/. 1 - c.1492G>C r.(?) p.(Ala498Pro) - VUS g.43052118G>C g.43196975G>C - - HGSNAT_000102 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1496G>A r.(?) p.(Arg499Gln) - VUS g.43052122G>A g.43196979G>A - - HGSNAT_000103 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs756140276 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
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