All transcript variants in gene HGSNAT

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

261 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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? 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? g.42993715_42996053del g.43138572_43140910del c.202+1G>A - HGSNAT_000046 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
-?/. - c.63G>A likely benign r.(?) p.(=) g.42995702G>A - HGSNAT(NM_152419.2):c.63G>A (p.A21=) - HGSNAT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.108G>A benign r.(?) p.(=) g.42995747G>A - HGSNAT(NM_152419.2):c.108G>A (p.A36=) - HGSNAT_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1i c.118+1G>A - r.spl? p.? g.42995758G>A g.43140615G>A c.202+1G>A - HGSNAT_000006 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+?/. 2 c.164T>A pathogenic (recessive) r.(?) p.(Leu55*) 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 pathogenic (recessive) r.(?) p.(Leu55*) 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 pathogenic (recessive) r.(?) p.(Leu55*) 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 VUS r.(?) p.(Val69Ile) g.43002177G>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) 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) 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) 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) 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) 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) 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) 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) g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. - c.234+1G>A pathogenic r.spl? p.? g.43002207G>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 pathogenic (recessive) r.spl p.(Asp40Valfs*19) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352908 Germline - - - 0 - Carla Martins
+/. 2i c.234+1G>A pathogenic (recessive) r.spl p.(Asp40Valfs*19) 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 pathogenic (recessive) r.spl p.(Asp40Valfs*19) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - Carla Martins
+/. - c.234+1G>A pathogenic r.spl? p.? g.43002207G>A - HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.234+14C>G likely benign r.(=) p.(=) g.43002220C>G - HGSNAT(NM_152419.2):c.234+14C>G - HGSNAT_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.259G>A VUS r.(?) p.(Val87Ile) g.43013742G>A - - - HGSNAT_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs374287774 Germline - 3/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.259G>T VUS r.(?) p.(Val87Phe) g.43013742G>T - - - HGSNAT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.342C>T likely benign r.(?) p.(=) g.43013825C>T - HGSNAT(NM_152419.2):c.342C>T (p.N114=) - HGSNAT_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.370A>T pathogenic (recessive) r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.370A>T pathogenic (recessive) r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. 3i c.372-2A>G - r.spl p.? g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+/. - c.372-2A>G pathogenic (recessive) r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352896 Germline - - - 0 - Carla Martins
+/. 3i c.372-2A>G pathogenic (recessive) r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] 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 pathogenic (recessive) r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] 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 pathogenic (recessive) r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - Carla Martins
+?/. - c.398G>C pathogenic (recessive) r.(?) p.(Gly133Ala) g.43014092G>C g.43158949G>C - - HGSNAT_000125 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - Johan den Dunnen
+/+ 4 c.410T>C - r.(?) p.(Leu137Pro) 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) g.43014104T>C g.43158961T>C - - HGSNAT_000036 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+?/. - c.410T>C likely pathogenic r.(?) p.(Leu137Pro) g.43014104T>C - HGSNAT(NM_152419.2):c.410T>C (p.L137P) - HGSNAT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.468C>T benign r.(?) p.(=) g.43014162C>T - HGSNAT(NM_152419.2):c.468C>T (p.N156=) - HGSNAT_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.479T>C likely benign r.(?) p.(Val160Ala) g.43014173T>C - HGSNAT(NM_152419.2):c.479T>C (p.V160A) - HGSNAT_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.493C>T VUS r.(?) p.(Pro165Ser) g.43014187C>T - - - HGSNAT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 4i c.493+1G>A - r.spl p.? 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.? 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.? 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.? 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.? g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Feldhammer 2009 - - Germline - - -BsiWI 0 - Stéphanie Durand
?/. - c.493+5G>A VUS r.spl? p.? g.43014192G>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 VUS r.spl? p.? g.43014192G>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 pathogenic (recessive) r.spl p.[(P165_L187delinsQSCYVTQAGVRWHHLGSLQALPPGFTPFSYLSLLSSWNC,P165fs)] g.43016580G>A g.43161437G>A - - HGSNAT_000089 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+/. 5 c.518G>A pathogenic (recessive) r.(?) p.(Gly173Asp) g.43016605G>A g.43161462G>A - - HGSNAT_000088 - PubMed: Martins 2019, Journal: Martins 2019 - rs370717845 Germline - - - 0 - Carla Martins
+?/. 5 c.525dup pathogenic (recessive) r.(?) p.(Val176Cysfs*16) 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 pathogenic (recessive) r.(?) p.(Val176Cysfs*16) 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.525dupT - r.(?) p.? g.43016612dupT g.43161469dupT - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dupT - r.(?) p.? g.43016612dupT g.43161469dupT - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dupT - r.(?) p.? g.43016612dupT g.43161469dupT - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dupT - r.(?) p.? g.43016612dupT g.43161469dupT - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 5 c.525dupT - r.(?) p.? g.43016612dupT g.43161469dupT - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - Stéphanie Durand
-/. - c.564-98T>C benign r.(=) p.(=) g.43024218T>C - - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
-/. - c.564-98T>C benign r.(=) p.(=) g.43024218T>C - - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
-/. - c.564-98T>C benign r.(=) p.(=) g.43024218T>C - - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+/. - c.582delinsCCC pathogenic r.(?) p.(Trp195Profs*7) g.43024334delinsCCC - HGSNAT(NM_152419.2):c.582delTinsCCC (p.W195Pfs*7) - HGSNAT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 6 c.607C>T - r.(?) p.(Arg203*) g.43024359C>T g.43169216C>T - - HGSNAT_000034 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. - c.607C>T pathogenic r.(?) p.(Arg203*) g.43024359C>T - HGSNAT(NM_152419.2):c.607C>T (p.R203*) - HGSNAT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 6i_8i c.634-408_820+338delinsAGAATATG pathogenic (recessive) r.(634_820del) p.(Glu212Glyfs*2) g.43025320_43027867delinsAGAATATG - - - HGSNAT_000123 - PubMed: Van Cauwenbergh 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.641delG - r.(?) p.? g.? - - - HGSNAT_000050 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
?/. - c.652A>G VUS r.(?) p.(Arg218Gly) g.43025746A>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.? g.43025776_43025834del g.43170633_43170691del - - HGSNAT_000030 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
-?/. - c.688A>G likely benign r.(?) p.(Thr230Ala) g.43025782A>G - HGSNAT(NM_001363227.1):c.688A>G (p.T230A) - HGSNAT_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.689C>T VUS r.(?) p.(Thr230Met) g.43025783C>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) 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) 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) 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) g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
?/. - c.710C>A VUS r.(?) p.(Pro237Gln) g.43025804C>A - - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
?/. - c.710C>A VUS r.(?) p.(Pro237Gln) g.43025804C>A - - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
?/. - c.710C>A VUS r.(?) p.(Pro237Gln) g.43025804C>A - - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
+/. 7 c.739delA - r.(?) p.? g.43025833delA g.43170690delA - - HGSNAT_000031 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 7 c.739delA - r.(?) p.? g.43025833delA g.43170690delA - - HGSNAT_000031 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 7 c.739delA - r.(?) p.? g.43025833delA g.43170690delA - - HGSNAT_000031 c.739delA from Italian mother, c.1516C>T from Belgian father PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. - c.743+1dup pathogenic r.(?) p.(Ile249Aspfs*31) g.43025838dup - HGSNAT(NM_152419.2):c.743_743+1insG - HGSNAT_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 7i c.743+1dupG - r.spl p.? g.43025838dupG g.43170695dupG - - HGSNAT_000033 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 7i c.744-2A>G - r.spl p.? g.43027451A>G g.43172308A>G - - HGSNAT_000051 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
-/. - c.765C>T benign r.(?) p.(=) g.43027474C>T - HGSNAT(NM_152419.2):c.765C>T (p.V255=) - HGSNAT_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 8 c.773A>T pathogenic (recessive) r.(?) p.(Asn258Ile) 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 pathogenic (recessive) r.(?) p.(Asn258Ile) 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 pathogenic (recessive) r.(?) p.(Asn258Ile) 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 pathogenic (recessive) r.(?) p.(Asn258Ile) 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 pathogenic (recessive) r.(?) p.(Asn258Ile) 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 benign r.(?) p.(=) g.43027489A>C - HGSNAT(NM_152419.2):c.780A>C (p.G260=) - HGSNAT_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 8 c.784G>A - r.(?) p.(Gly262Arg) g.43027493G>A g.43172350G>A - - HGSNAT_000038 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
?/. - c.801C>G VUS r.(?) p.(Phe267Leu) g.43027510C>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) g.43027528T>G g.43172385T>G - - HGSNAT_000039 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
?/. - c.820G>C VUS r.(?) p.(Gly274Arg) g.43027529G>C - - - HGSNAT_000098 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
+?/. - c.833C>T likely pathogenic r.(?) p.(Ala278Val) g.43028868C>T - HGSNAT(NM_152419.2):c.833C>T (p.A278V) - HGSNAT_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 9 c.848C>T - r.(?) p.(Pro283Leu) 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) 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) g.43028883C>T g.43173740C>T c.932C>T - HGSNAT_000003 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. 9 c.848C>T pathogenic (recessive) r.(?) p.(Pro283Leu) g.43028883C>T g.43173740C>T - - HGSNAT_000003 - PubMed: Martins 2019, Journal: Martins 2019 1232 rs121908282 Germline - - - 0 - Carla Martins
+/. - c.848C>T pathogenic r.(?) p.(Pro283Leu) g.43028883C>T - - - HGSNAT_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121908282 Germline - 2/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
+/. - c.848C>T pathogenic r.(?) p.(Pro283Leu) g.43028883C>T - HGSNAT(NM_152419.2):c.848C>T (p.P283L) - HGSNAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 9i c.851+5G>A - r.spl? p.(Phe285*) g.43028891G>A g.43173748G>A c.935+5G>A - HGSNAT_000008 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
Legend   « First ‹ Prev     1 2 3     Next › Last »