All variants in the HGSNAT gene

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

270 entries on 3 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 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 - - - 0 - Stéphanie Durand
+/. 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 - - - 0 - Stéphanie Durand
-?/. - 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
-/. - c.108G>A r.(?) p.(Ala36=) - benign g.42995747G>A g.43140604G>A HGSNAT(NM_152419.2):c.108G>A (p.A36=) - HGSNAT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 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 - - - 0 - Stéphanie Durand
+?/. 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 PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+?/. 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 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+?/. 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 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
?/. - 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 - 0 - Yoshito Koyanagi
+/+ 2 c.227G>T r.(?) p.(Cys76Phe) - pathogenic g.43002199G>T g.43147056G>T c.311G>T - HGSNAT_000017 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. - c.234+1G>A r.spl? p.? - pathogenic g.43002207G>A g.43147064G>A HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352908 Germline - - - 0 - Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - Carla Martins
+/. - c.234+1G>A r.spl? p.? - pathogenic g.43002207G>A g.43147064G>A HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.234+1G>A r.spl p.? - likely pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.234+14C>G r.(=) p.(=) - likely benign g.43002220C>G g.43147077C>G HGSNAT(NM_152419.2):c.234+14C>G - HGSNAT_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - 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 - 0 - Yoshito Koyanagi
?/. - c.259G>T r.(?) p.(Val87Phe) - 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_Nijmegen
?/. - c.259G>T r.(?) p.(Val87Phe) - 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
-?/. - 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
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.370A>T r.(?) p.(Arg124Trp) ACMG pathogenic g.43013853A>T - - - HGSNAT_000124 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.370A>T r.spl p.(Cys79Valfs*20) - pathogenic (recessive) g.43013853A>T - - - HGSNAT_000124 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 3i c.372-2A>G r.spl p.? - pathogenic g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+/. - c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352896 Germline - - - 0 - Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - Carla Martins
+?/. - c.398G>C r.(?) p.(Gly133Ala) - pathogenic (recessive) g.43014092G>C g.43158949G>C - - HGSNAT_000125 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - Johan den Dunnen
+/+ 4 c.410T>C r.(?) p.(Leu137Pro) - pathogenic g.43014104T>C g.43158961T>C - - HGSNAT_000036 - PubMed: Fedele 2007; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 4 c.410T>C r.(?) p.(Leu137Pro) - pathogenic g.43014104T>C g.43158961T>C - - HGSNAT_000036 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+?/. - c.410T>C r.(?) p.(Leu137Pro) - likely pathogenic g.43014104T>C g.43158961T>C HGSNAT(NM_152419.2):c.410T>C (p.L137P) - HGSNAT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - 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
-?/. - 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
?/. - 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
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Fan 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Fan 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Hrebicek 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Hrebicek 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Feldhammer 2009 - - Germline - - -BsiWI 0 - Stéphanie Durand
?/. - c.493+5G>A r.spl? p.? - VUS g.43014192G>A g.43159049G>A HGSNAT(NM_152419.2):c.493+5G>A - HGSNAT_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.493+5G>A r.spl? p.? - VUS g.43014192G>A g.43159049G>A HGSNAT(NM_152419.2):c.493+5G>A - HGSNAT_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 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 - - - 0 - Carla Martins
+/. 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 - - - 0 - Carla Martins
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+?/. 5 c.525dup r.(?) p.(Val176Cysfs*16) - pathogenic (recessive) g.43016612dup g.43161469dup - - HGSNAT_000087 2/11 MPSIIIC alleles in Paraiba, 2/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - rs483352895 Germline - - - 0 - Carla Martins
+?/. 5 c.525dup r.(?) p.(Val176Cysfs*16) - pathogenic (recessive) g.43016612dup g.43161469dup - - HGSNAT_000087 2/11 MPSIIIC alleles in Paraiba, 2/23 MPSIIIC alleles in Brazil PubMed: Martins 2019, Journal: Martins 2019 - rs483352895 Germline - - - 0 - Carla Martins
-/. - c.564-98T>C r.(=) p.(=) - benign g.43024218T>C g.43169075T>C - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
-/. - c.564-98T>C r.(=) p.(=) - benign g.43024218T>C g.43169075T>C - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
-/. - c.564-98T>C r.(=) p.(=) - benign g.43024218T>C g.43169075T>C - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 6 c.607C>T r.(?) p.(Arg203*) - pathogenic g.43024359C>T g.43169216C>T - - HGSNAT_000034 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. - c.607C>T r.(?) 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 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 - - - 0 - Johan den Dunnen
+/. 7 c.641delG r.(?) p.? - pathogenic g.? - - - HGSNAT_000050 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
?/. - 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 - 0 - Yoshito Koyanagi
+/. 7 c.682_740del r.(?) p.(Pro228GlyfsTer32) - pathogenic g.43025776_43025834del g.43170633_43170691del - - HGSNAT_000030 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
-?/. - 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
?/. - 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 - 0 - Yoshito Koyanagi
?/- 7 c.710C>A r.(?) p.(Pro237Gln) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
?/- 7 c.710C>A r.(?) p.(Pro237Gln) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
?/- 7 c.710C>A r.(?) p.(Pro237Gln) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
?/- 7 c.710C>A r.(?) p.(Pro237Gln) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
?/. - c.710C>A r.(?) p.(Pro237Gln) - VUS g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
?/. - c.710C>A r.(?) p.(Pro237Gln) - VUS g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
?/. - c.710C>A r.(?) p.(Pro237Gln) - VUS g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+?/. - c.710C>A r.(?) p.(Pro237Gln) - likely pathogenic (recessive) g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 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: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. 7i c.743+1dup r.spl p.(Ile249AspfsTer31) - pathogenic g.43025838dup g.43170695dup - - HGSNAT_000033 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. - c.743+1dup r.spl? p.? - pathogenic g.43025838dup g.43170695dup HGSNAT(NM_152419.2):c.743_743+1insG - HGSNAT_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 7i c.744-2A>G r.spl p.? - pathogenic g.43027451A>G g.43172308A>G - - HGSNAT_000051 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
-/. - 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 - - - 0 - VKGL-NL_AMC
+/. 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 - - - 0 - Carla Martins
+/. 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 - - - 0 - Carla Martins
+/. 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 - - - 0 - Carla Martins
+/. 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 - - - 0 - Carla Martins
+/. 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 - - - 0 - Carla Martins
-/. - 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
+/+ 8 c.784G>A r.(?) p.(Gly262Arg) - pathogenic g.43027493G>A g.43172350G>A - - HGSNAT_000038 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
?/. - 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 - 0 - Yoshito Koyanagi
+/+ 8 c.819T>G r.(?) p.(Asn273Lys) - pathogenic g.43027528T>G g.43172385T>G - - HGSNAT_000039 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
?/. - 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 - 0 - Yoshito Koyanagi
+?/. - c.833C>T r.(?) p.(Ala278Val) - likely pathogenic g.43028868C>T g.43173725C>T HGSNAT(NM_152419.2):c.833C>T (p.A278V) - HGSNAT_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 9 c.848C>T r.(?) p.(Pro283Leu) - pathogenic g.43028883C>T g.43173740C>T c.932C>T - HGSNAT_000003 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/+ 9 c.848C>T r.(?) p.(Pro283Leu) - pathogenic g.43028883C>T g.43173740C>T c.932C>T - HGSNAT_000003 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
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