Full data view for gene HGSNAT

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

312 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.1-1925_118+296del r.0? p.0? Both (homozygous) - pathogenic g.42993715_42996053del g.43138572_43140910del c.202+1G>A - HGSNAT_000046 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - F - Turkey - - 0 - - 1 Stéphanie Durand
+/. 1 c.1-1925_118+296del r.0? p.0? Both (homozygous) - pathogenic g.42993715_42996053del g.43138572_43140910del c.202+1G>A - HGSNAT_000046 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - M - Turkey - - 0 - - 1 Stéphanie Durand
-?/. - c.63G>A r.(?) p.(Ala21=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73C>G r.(?) p.(Pro25Ala) Unknown - likely benign g.42995712C>G - HGSNAT(NM_001363227.1):c.73C>G (p.P25A) - HGSNAT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108G>A r.(?) p.(Ala36=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.108G>A r.(?) p.(Ala36=) Unknown - likely benign g.42995747G>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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.118+1G>A r.spl? p.? Maternal (confirmed) - pathogenic g.42995758G>A g.43140615G>A c.202+1G>A - HGSNAT_000006 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - F - Ireland - - 0 - - 1 Stéphanie Durand
-?/. - c.118+10C>A r.(=) p.(=) Unknown - likely benign g.42995767C>A - HGSNAT(NM_152419.2):c.118+10C>A - HGSNAT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.164T>A r.(?) p.(Leu55*) Both (homozygous) - 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 - DNA SEQ - - MPS-3C Br1 PubMed: Martins 2019, Journal: Martins 2019 Brother Br2; origin: state of Paraiba M yes Brazil - - 0 - - 2 Carla Martins
+?/. 2 c.164T>A r.(?) p.(Leu55*) Both (homozygous) - 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 - DNA SEQ - - MPS-3C Br2 PubMed: Martins 2019, Journal: Martins 2019 Brother Br1; origin: state of Paraiba M yes Brazil - 15y10m 0 - - 1 Carla Martins
+?/. 2 c.164T>A r.(?) p.(Leu55*) Parent #1 - 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 - DNA SEQ - - MPS-3C Br3 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba M no Brazil - - 0 - - 1 Carla Martins
?/. - c.205G>A r.(?) p.(Val69Ile) Unknown - VUS g.43002177G>A g.43147034G>A - - HGSNAT_000093 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs202001245 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+/+ 2 c.227G>T r.(?) p.(Cys76Phe) Paternal (confirmed) - pathogenic g.43002199G>T g.43147056G>T c.311G>T - HGSNAT_000017 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - F - Belarus - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Unknown - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - F - France - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - M - Spain - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - M - Morocco - - 0 - - 2 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - F - Morocco - - 0 - - 2 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Fedele 2007 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Fedele 2007 - M - Italy - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Ruijter 2008 - F - Turkey - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - F - Morocco - - 0 - - 1 Stéphanie Durand
+/. - c.234+1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352908 Germline - - - 0 - DNA SEQ - - MPS-3C Br12 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Sao Paulo M yes Brazil - - 0 - - 1 Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Maternal (confirmed) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - DNA SEQ - - MPS-3C Pt1 PubMed: Martins 2019, Journal: Martins 2019 - F no Portugal Portuguese - 0 - - 1 Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - DNA SEQ - - MPS-3C Alg1 PubMed: Martins 2019, Journal: Martins 2019 - M ? Algeria - - 0 - - 1 Carla Martins
+/. - c.234+1G>A r.spl? p.? Unknown - pathogenic g.43002207G>A g.43147064G>A HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.234+1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411534 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - 0 - - 1 Johan den Dunnen
?/. - c.259G>A r.(?) p.(Val87Ile) Unknown - VUS g.43013742G>A g.43158599G>A - - HGSNAT_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs374287774 Germline - 3/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 3 Yoshito Koyanagi
+?/. - c.259G>T r.(?) p.(Val87Phe) Unknown - likely pathogenic g.43013742G>T g.43158599G>T HGSNAT(NM_001363227.1):c.259G>T (p.V87F) - HGSNAT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259G>T r.(?) p.(Val87Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342C>T r.(?) p.(Asn114=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) Both (homozygous) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES retinal disease FamAPatII1 PubMed: Haer-Wigman 2015 2-generation family, 1affected, unaffected heterozygous carrier parents F - Israel Jewish-Ashkenazi - 0 - - 1 Johan den Dunnen
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) Both (homozygous) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - retinal disease FamBPatII1/2 PubMed: Haer-Wigman 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Israel Jewish-Ashkenazi - 0 - - 2 Johan den Dunnen
+/. - c.370A>T r.(?) p.(Arg124Trp) Unknown ACMG pathogenic g.43013853A>T - - - HGSNAT_000124 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - 0 - - 3 Global Variome, with Curator vacancy
+/. - c.370A>T r.spl p.(Cys79Valfs*20) Both (homozygous) - pathogenic (recessive) g.43013853A>T - - - HGSNAT_000124 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Kimchi 2018, PubMed: Sharon 2019 2 families - - Israel - - 0 - - 2 Johan den Dunnen
+/. 3i c.372-2A>G r.spl p.? Unknown - pathogenic g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Coutinho 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Coutinho 2008 - - - Portugal - - 0 - - 1 Stéphanie Durand
+/. - c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] Both (homozygous) - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352896 Germline - - - 0 - DNA SEQ - - MPS-3C Br13 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Rio de Janeiro F yes Brazil - - 0 - - 1 Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] Both (homozygous) - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - DNA SEQ - - MPS-3C Br14 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Sao Paulo F ? Brazil - - 0 - - 1 Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] Both (homozygous) - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - DNA SEQ - - MPS-3C Clb1 PubMed: Martins 2019, Journal: Martins 2019 - M no Colombia - - 0 - - 1 Carla Martins
+/. 3i c.372-2A>G r.spl p.[(Arg124Serfs*27,Leu125_Arg128del)] Paternal (confirmed) - pathogenic (recessive) g.43014064A>G g.43158921A>G - - HGSNAT_000042 - PubMed: Martins 2019, Journal: Martins 2019 1236 rs483352896 Germline - - - 0 - DNA SEQ - - MPS-3C Pt1 PubMed: Martins 2019, Journal: Martins 2019 - F no Portugal Portuguese - 0 - - 1 Carla Martins
+?/. 3i c.372-2A>G r.(?) p.(?) Unknown - likely pathogenic g.43014064A>G g.43158921A>G HGSNAT IVS3 c.372-2A>G p.(?), Ex.18 c.1843G>A p.(Ala615Thr), ABCA4: Ex.23 c.3386G>T p.(Arg1129Leu) - HGSNAT_000042 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I - - retinal disease RP-3007 PubMed: Martin Merida 2019 - ? - Spain - - 0 - - 1 LOVD
+?/. - c.398G>C r.(?) p.(Gly133Ala) Parent #1 - pathogenic (recessive) g.43014092G>C g.43158949G>C - - HGSNAT_000125 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES retinal disease FamCPatII1/2/3 PubMed: Haer-Wigman 2015 2-generation family, 3 affected (F, M), unaffected heterozygous carrier parents F;M no Netherlands - - 0 - - 3 Johan den Dunnen
+/+ 4 c.410T>C r.(?) p.(Leu137Pro) Maternal (confirmed) - pathogenic g.43014104T>C g.43158961T>C - - HGSNAT_000036 - PubMed: Fedele 2007; PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Fedele 2007, PubMed: Ruijter 2008 - M - Netherlands - - 0 - - 2 Stéphanie Durand
+/+ 4 c.410T>C r.(?) p.(Leu137Pro) Unknown - pathogenic g.43014104T>C g.43158961T>C - - HGSNAT_000036 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - - - Germany - - 0 - - 1 Stéphanie Durand
+?/. - c.410T>C r.(?) p.(Leu137Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468C>T r.(?) p.(Asn156=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479T>C r.(?) p.(Val160Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493C>T r.(?) p.(Pro165Ser) Unknown - VUS g.43014187C>T g.43159044C>T - - HGSNAT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.493+1G>A r.spl p.? Both (homozygous) - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Fan 2006 - - Germline - - -BsiWI 0 - DNA SEQ - - MPS-3C - PubMed: Fan 2006 - - - Canada - - 0 - - 1 Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? Unknown - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Fan 2006 - - Germline - - -BsiWI 0 - DNA SEQ - - MPS-3C - PubMed: Fan 2006 - - - Canada - - 0 - - 1 Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? Unknown - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Hrebicek 2006 - - Germline - - -BsiWI 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - M - Canada - - 0 - - 1 Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? Both (homozygous) - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Hrebicek 2006 - - Germline - - -BsiWI 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - M - Algeria - - 0 - - 1 Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? Unknown - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Feldhammer 2009 - - Germline - - -BsiWI 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - M - Singapore - - 0 - - 1 Stéphanie Durand
?/. - c.493+5G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.493+5G>A r.spl? p.? Unknown - VUS g.43014192G>A g.43159049G>A HGSNAT(NM_152419.2):c.493+5G>A - HGSNAT_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.493+5G>A r.372_493del p.(Arg124Serfs*25) Parent #2 - pathogenic (recessive) g.43014192G>A g.43159049G>A - - HGSNAT_000060 - Fadaie 2021, submitted - - Germline no - - 0 - DNA SEQ-NG - - retinal disease ? Fadaie 2021, submitted - F - Netherlands - - 0 - - 1 Zeinab Fadaie
+/. 4i c.494-1G>A r.spl p.[(P165_L187delinsQSCYVTQAGVRWHHLGSLQALPPGFTPFSYLSLLSSWNC,P165fs)] Both (homozygous) - pathogenic (recessive) g.43016580G>A g.43161437G>A - - HGSNAT_000089 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPS-3C Can1 PubMed: Martins 2019, Journal: Martins 2019 - F yes Canada white - 0 - - 1 Carla Martins
+/. 5 c.518G>A r.(?) p.(Gly173Asp) Maternal (confirmed) - pathogenic (recessive) g.43016605G>A g.43161462G>A - - HGSNAT_000088 - PubMed: Martins 2019, Journal: Martins 2019 - rs370717845 Germline - - - 0 - DNA SEQ - - MPS-3C USA1 PubMed: Martins 2019, Journal: Martins 2019 - M no United States white - 0 - - 1 Carla Martins
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Both (homozygous) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - F - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Unknown - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - M - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Unknown - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Coutinho 2008 - - - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Both (homozygous) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Coutinho 2008 - - - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Both (homozygous) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Coutinho 2008 - - - Portugal - - 0 - - 1 Stéphanie Durand
+?/. 5 c.525dup r.(?) p.(Val176Cysfs*16) Parent #2 - 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 - DNA SEQ - - MPS-3C Br4 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - - 0 - - 1 Carla Martins
+?/. 5 c.525dup r.(?) p.(Val176Cysfs*16) Parent #1 - 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 - DNA SEQ - - MPS-3C Br5 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - 22y 0 - - 1 Carla Martins
-/. - c.564-98T>C r.(=) p.(=) Both (homozygous) - benign g.43024218T>C g.43169075T>C - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS-3C Br12 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Sao Paulo M yes Brazil - - 0 - - 1 Carla Martins
-/. - c.564-98T>C r.(=) p.(=) Maternal (confirmed) - benign g.43024218T>C g.43169075T>C - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS-3C Pt1 PubMed: Martins 2019, Journal: Martins 2019 - F no Portugal Portuguese - 0 - - 1 Carla Martins
-/. - c.564-98T>C r.(=) p.(=) Both (homozygous) - benign g.43024218T>C g.43169075T>C - - HGSNAT_000092 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS-3C Alg1 PubMed: Martins 2019, Journal: Martins 2019 - M ? Algeria - - 0 - - 1 Carla Martins
+/. - c.582delinsCCC r.(?) p.(Trp195ProfsTer7) Unknown - pathogenic g.43024334delinsCCC g.43169191delinsCCC HGSNAT(NM_152419.2):c.582delTinsCCC (p.W195Pfs*7) - HGSNAT_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.607C>T r.(?) p.(Arg203*) Paternal (confirmed) - pathogenic g.43024359C>T g.43169216C>T - - HGSNAT_000034 - PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Ruijter 2008 - - - Netherlands - - 0 - - 1 Stéphanie Durand
+/. - c.607C>T r.(?) p.(Arg203Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i_8i c.634-408_820+338delinsAGAATATG r.(634_820del) p.(Glu212Glyfs*2) Parent #1 - pathogenic (recessive) g.43025320_43027867delinsAGAATATG g.43170177_43172724delinsAGAATATG - - HGSNAT_000123 - PubMed: Van Cauwenbergh 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - RP gene panel retinal disease P33 PubMed: Van Cauwenbergh 2016 - M - Belgium - - 0 - - 1 Johan den Dunnen
+/. 7 c.641delG r.(?) p.? Maternal (inferred) - pathogenic g.? - - - HGSNAT_000050 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - F - Belarus - - 0 - - 1 Stéphanie Durand
?/. - c.652A>G r.(?) p.(Arg218Gly) Unknown - VUS g.43025746A>G g.43170603A>G - - HGSNAT_000095 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs541981232 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+/. 7 c.682_740del r.(?) p.(Pro228GlyfsTer32) Unknown - pathogenic g.43025776_43025834del g.43170633_43170691del - - HGSNAT_000030 - PubMed: Fedele 2007 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Fedele 2007 - M - Italy - - 0 - - 1 Stéphanie Durand
-?/. - c.688A>G r.(?) p.(Thr230Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.689C>T r.(?) p.(Thr230Met) Unknown - VUS g.43025783C>T g.43170640C>T - - HGSNAT_000096 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs200416815 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
?/- 7 c.710C>A r.(?) p.(Pro237Gln) Both (homozygous) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - M - Spain - - 0 - - 1 Stéphanie Durand
?/- 7 c.710C>A r.(?) p.(Pro237Gln) Both (homozygous) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - M - Morocco - - 0 - - 2 Stéphanie Durand
?/- 7 c.710C>A r.(?) p.(Pro237Gln) Both (homozygous) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - F - Morocco - - 0 - - 2 Stéphanie Durand
?/- 7 c.710C>A r.(?) p.(Pro237Gln) Both (homozygous) - VUS g.43025804C>A g.43170661C>A c.794C>A - HGSNAT_000037 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - F - Morocco - - 0 - - 1 Stéphanie Durand
?/. - c.710C>A r.(?) p.(Pro237Gln) Both (homozygous) - VUS g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS-3C Br12 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Sao Paulo M yes Brazil - - 0 - - 1 Carla Martins
?/. - c.710C>A r.(?) p.(Pro237Gln) Maternal (confirmed) - VUS g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS-3C Pt1 PubMed: Martins 2019, Journal: Martins 2019 - F no Portugal Portuguese - 0 - - 1 Carla Martins
?/. - c.710C>A r.(?) p.(Pro237Gln) Both (homozygous) - VUS g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - DNA SEQ - - MPS-3C Alg1 PubMed: Martins 2019, Journal: Martins 2019 - M ? Algeria - - 0 - - 1 Carla Martins
+?/. - c.710C>A r.(?) p.(Pro237Gln) Parent #2 - likely pathogenic (recessive) g.43025804C>A g.43170661C>A - - HGSNAT_000037 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411534 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - 0 - - 1 Johan den Dunnen
?/. - c.728T>C r.(?) p.(Val243Ala) Unknown - VUS g.43025822T>C - HGSNAT(NM_152419.3):c.728T>C - HGSNAT_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) Both (homozygous) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Hrebicek 2006 - F - - North African - 0 - - 1 Stéphanie Durand
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) Both (homozygous) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 - PubMed: Fedele 2007 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Fedele 2007 - M - Italy - - 0 - - 1 Stéphanie Durand
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) Maternal (confirmed) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 c.739delA from Italian mother, c.1516C>T from Belgian father PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - F - Belgium;Italy - - 0 - - 1 Stéphanie Durand
+/. 7i c.743+1dup r.spl p.(Ile249AspfsTer31) Unknown - pathogenic g.43025838dup g.43170695dup - - HGSNAT_000033 - PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Ruijter 2008 - M - Netherlands - - 0 - - 1 Stéphanie Durand
+/. - c.743+1dup r.spl? p.? Unknown - pathogenic g.43025838dup g.43170695dup HGSNAT(NM_152419.2):c.743_743+1insG - HGSNAT_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7i c.744-2A>G r.spl p.? Both (homozygous) - pathogenic g.43027451A>G g.43172308A>G - - HGSNAT_000051 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Feldhammer 2009 - - - Pakistan - - 0 - - 1 Stéphanie Durand
-/. - c.765C>T r.(?) p.(Val255=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 8 c.773A>T r.(?) p.(Asn258Ile) Parent #2 - 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 - DNA SEQ - - MPS-3C Br3 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba M no Brazil - - 0 - - 1 Carla Martins
+/. 8 c.773A>T r.(?) p.(Asn258Ile) Parent #1 - 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 - DNA SEQ - - MPS-3C Br4 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - - 0 - - 1 Carla Martins
+/. 8 c.773A>T r.(?) p.(Asn258Ile) Parent #2 - 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 - DNA SEQ - - MPS-3C Br5 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - 22y 0 - - 1 Carla Martins
+/. 8 c.773A>T r.(?) p.(Asn258Ile) Both (homozygous) - 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 - DNA SEQ - - MPS-3C Br6 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba M no Brazil - - 0 - - 1 Carla Martins
+/. 8 c.773A>T r.(?) p.(Asn258Ile) Both (homozygous) - 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 - DNA SEQ - - MPS-3C Br7 PubMed: Martins 2019, Journal: Martins 2019 origin: state of Paraiba F no Brazil - - 0 - - 1 Carla Martins
-/. - c.780A>C r.(?) p.(Gly260=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.784G>A r.(?) p.(Gly262Arg) Unknown - pathogenic g.43027493G>A g.43172350G>A - - HGSNAT_000038 - PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS-3C - PubMed: Ruijter 2008 - F - Netherlands - - 0 - - 1 Stéphanie Durand
?/. - c.801C>G r.(?) p.(Phe267Leu) Unknown - VUS g.43027510C>G g.43172367C>G - - HGSNAT_000097 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
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