Full data view for gene GUCY2D

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000180.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - pathogenic g.7917236C>T g.8013918C>T GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp)) - GUCY2D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - pathogenic g.7917236C>T g.8013918C>T - - GUCY2D_000055 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - F - - - - - - - 1 Marta de Castro-Miró
+/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - pathogenic g.7917236C>T g.8013918C>T GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp)) - GUCY2D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - VUS g.7917236C>T g.8013918C>T GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp)) - GUCY2D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - likely pathogenic (recessive) g.7917236C>T g.8013918C>T - - GUCY2D_000055 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 homozygous patients - - Norway - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Maternal (confirmed) - likely pathogenic (recessive) g.7917236C>T g.8013918C>T - - GUCY2D_000055 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1836 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - likely pathogenic (recessive) g.7917236C>T g.8013918C>T - - GUCY2D_000055 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam2599 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - likely pathogenic (recessive) g.7917236C>T g.8013918C>T - - GUCY2D_000055 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat25 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Parent #2 - pathogenic g.7917236C>T - p.R768W - GUCY2D_000055 - PubMed: Yzer 2006 - - Germline yes - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Yzer 2006 - - - - white (dutch, belgian or german) - - - - 1 Julia Lopez
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - pathogenic g.7917236C>T - p.R768W - GUCY2D_000055 - PubMed: Yzer 2006 - - Germline yes - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Yzer 2006 - - yes - white (dutch, belgian or german) - - - - 1 Julia Lopez
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - pathogenic g.7917236C>T - p.R768W - GUCY2D_000055 - PubMed: Yzer 2006 - - Germline yes - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Yzer 2006 - - - - white (dutch, belgian or german) - - - - 1 Julia Lopez
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - pathogenic g.7917236C>T - p.R768W - GUCY2D_000055 - PubMed: Yzer 2006 - - Germline yes - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Yzer 2006 - - - - white (dutch, belgian or german) - - - - 1 Julia Lopez
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - pathogenic g.7917236C>T - p.R768W - GUCY2D_000055 - PubMed: Yzer 2006 - - Germline ? - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Yzer 2006 - - - - white (dutch, belgian or german) - - - - 1 Julia Lopez
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Unknown - pathogenic g.7917236C>T - 2302C>T - GUCY2D_000055 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - F no China Chinese - - - - 1 LOVD
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Unknown - pathogenic g.7917236C>T - c.2302C>T - GUCY2D_000055 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) ACMG likely pathogenic g.7917236C>T g.8013918C>T GUCY2D c.2302C>T, p.(Arg768Trp), c.2302C>T, p.(Arg768Trp) - GUCY2D_000055 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 143 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - VUS g.7917236C>T g.8013918C>T GUCY2D nucleotide 1, protein 1:c.2302C>T , p.Arg768Trp - GUCY2D_000055 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 73 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown ACMG likely pathogenic g.7917236C>T g.8013918C>T GUCY2D c.2302C>T; p.Arg768Trp - GUCY2D_000055 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 41 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. 12 c.2302C>T r.(?) p.(Arg768Trp) Unknown - likely pathogenic g.7917236C>T - c.2302C>T (p.(Arg768Trp)) - GUCY2D_000055 - PubMed: SkorczykWerner-2020 - - Germline - - - - - DNA arraySNP - - retinal disease - PubMed: SkorczykWerner 2020 - M - - Polish - - - - 1 LOVD
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Parent #2 - pathogenic g.7917236C>T - c.2302C>T - GUCY2D_000055 - PubMed: Yzer-2005 - - Germline yes - - - - DNA ? - microarray chip retinal disease 13 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - pathogenic g.7917236C>T - c.2302C>T - GUCY2D_000055 - PubMed: Yzer-2005 - - Germline yes - - - - DNA ? - microarray chip retinal disease 14 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - pathogenic g.7917236C>T - c.2302C>T - GUCY2D_000055 - PubMed: Yzer-2005 - - Germline yes - - - - DNA ? - microarray chip retinal disease 15 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - pathogenic g.7917236C>T - c.2302C>T - GUCY2D_000055 - PubMed: Yzer-2005 - - Germline yes - - - - DNA ? - microarray chip retinal disease 16 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 12 c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - pathogenic g.7917236C>T - c.2302C>T - GUCY2D_000055 - PubMed: Yzer-2005 - - Germline ? - - - - DNA ? - microarray chip retinal disease 17 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; homozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 1 PubMed: Jacobson 2012 - M - United States Greek - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 2 PubMed: Jacobson 2012 - M - United States British/Irish/European/French Canadian - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 3 PubMed: Jacobson 2012 - M - United States British/Irish/German - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 4 PubMed: Jacobson 2012 - F - United States British/Irish/German - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 6 PubMed: Jacobson 2012 - F - United States Scandinavian/European - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 8 PubMed: Jacobson 2012 - F - United States Polish/Scandinavian - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; homozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 9 PubMed: Jacobson 2012 - M - United States Scandinavian - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D Arg768Trp - GUCY2D_000055 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 11 PubMed: Jacobson 2012 - F - United States Scandinavian - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D c.2302C>T, p.R768W - GUCY2D_000055 heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Wiszniewski 2011 family Ar-695 ? - United States - - - - - 1 LOVD
+?/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - likely pathogenic g.7917236C>T g.8013918C>T GUCY2D c.2302C>T, p.R768W - GUCY2D_000055 single allele in a recessive disease; heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Wiszniewski 2011 family Ar-785 ? - United States - - - - - 1 LOVD
?/. - c.2302C>T r.(?) p.(Arg768Trp) Parent #1 - VUS g.7917236C>T g.8013918C>T GUCY2D R768W - GUCY2D_000055 single heterozygous change while LCA should be caused by 2 recessive mutations PubMed: Peshenko 2010 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Peshenko 2010 - ? - United States - - - - - 1 LOVD
+/. - c.2302C>T r.(?) p.(Arg768Trp) Both (homozygous) ACMG pathogenic (recessive) g.7917236C>T g.8013918C>T - - GUCY2D_000055 ACMG PM5, PM1, PP2, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs61750168 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 8139 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown ACMG pathogenic g.7917236C>T g.8013918C>T - - GUCY2D_000055 ACMG PS1_MODERATE, PP3, PM2, PM5, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? XRP-241 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - pathogenic g.7917236C>T - GUCY2D(NM_000180.3):c.2302C>T (p.R768W), GUCY2D(NM_000180.4):c.2302C>T (p.R768W, p.(Arg768Trp)) - GUCY2D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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