Full data view for gene PDE6B

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000283.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.2193+1G>A r.spl? p.? Unknown - pathogenic g.658734G>A g.664945G>A PDE6B(NM_000283.3):c.2193+1G>A, PDE6B(NM_000283.4):c.2193+1G>A - PDE6B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2193+1G>A r.spl? p.? Unknown - pathogenic g.658734G>A g.664945G>A PDE6B(NM_000283.3):c.2193+1G>A, PDE6B(NM_000283.4):c.2193+1G>A - PDE6B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2193+1G>A r.spl? p.? Both (homozygous) - pathogenic (recessive) g.658734G>A - 4:658734G>A ENST00000496514.1:c.2193+1G>A - PDE6B_000063 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001022 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.2193+1G>A r.spl? p.? Unknown - pathogenic (recessive) g.658734G>A - 4:658734G>A ENST00000496514.1:c.2193+1G>A - PDE6B_000063 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004997 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.2193+1G>A r.spl p.? Parent #2 - likely pathogenic g.658734G>A g.664945G>A IVS18+1G>A - PDE6B_000063 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 440 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. - c.2193+1G>A r.spl p.? Unknown - pathogenic g.658734G>A g.664945G>A - - PDE6B_000063 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 6488 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+?/. - c.2193+1G>A r.spl p.? Unknown - likely pathogenic g.658734G>A g.664945G>A - - PDE6B_000063 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12007088 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl p.? Parent #1 - pathogenic g.658734G>A g.664945G>A - - PDE6B_000063 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease 3U3+6.63 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.658734G>A g.664945G>A - - PDE6B_000063 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
+?/. - c.2193+1G>A r.spl p.? Parent #1 - likely pathogenic g.658734G>A g.664945G>A - - PDE6B_000063 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 45 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+/. 18i c.2193+1G>A r.spl? p.? Both (homozygous) - pathogenic g.658734G>A - c.2193+1G>A - PDE6B_000063 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M yes Germany - - - - - 1 LOVD
+/. 18i c.2193+1G>A r.spl? p.? Unknown - pathogenic g.658734G>A - c.2193+1G>A - PDE6B_000063 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl p.(?) Both (homozygous) ACMG pathogenic g.658734G>A g.664945G>A PDE6B c.2193+1G>A, p.(?), c.2193+1G>A, p.(?) - PDE6B_000063 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 169 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl p.(?) Unknown ACMG pathogenic g.658734G>A g.664945G>A PDE6B c.385G>A, p.(Glu129Lys), c.2193+1G>A, p.(?) - PDE6B_000063 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 174 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl p.(?) Unknown ACMG pathogenic g.658734G>A g.664945G>A PDE6B c.1923_1969delinsTCTGGG, p.(Asn643Glyfs*29), c.2193+1G>A, p.(?) - PDE6B_000063 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 176 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl? p.? Unknown - pathogenic g.658734G>A - PDE6B(NM_000283.3):c.2193+1G>A, PDE6B(NM_000283.4):c.2193+1G>A - PDE6B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2193+1G>A r.spl p.(?) Unknown - pathogenic g.658734G>A g.664945G>A PDE6B c.2193+1G>A - PDE6B_000063 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2862_004447 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2193+1G>A r.spl p.(?) Parent #1 - likely pathogenic g.658734G>A g.664945G>A PDE6B, variant 1: c.2193+1G>A/p.?, variant 2: c.2193+1G>A/p.? - PDE6B_000063 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1159 PubMed: Weisschuh 2020 Filing key number: 823, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl p.(?) Both (homozygous) - pathogenic g.658734G>A g.664945G>A PDE6B c.2193+1G>A, - PDE6B_000063 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001022 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.2193+1G>A r.spl p.(?) Unknown - pathogenic g.658734G>A g.664945G>A PDE6B c.2193+1G>A, - PDE6B_000063 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G004997 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.2193+1G>A r.spl p.(?) Both (homozygous) ACMG likely pathogenic g.658734G>A g.664945G>A Variant 1: c.2193+1G>A;p.(?), Variant 2: c.2193+1G>A;p.(?) - PDE6B_000063 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease SRP823-26156 PubMed: Kuehlewein 2021 - M - - - - - - - 1 LOVD
+?/. - c.2193+1G>A r.spl p.(?) Unknown ACMG likely pathogenic g.658734G>A g.664945G>A Variant 1: c.1258-2A>G;p.(?), Variant 2: c.2193+1G>A;p.(?) - PDE6B_000063 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease SRP759-19456 PubMed: Kuehlewein 2021 - F - - - - - - - 1 LOVD
+/. 18 c.2193+1G>A r.spl p.(?) Maternal (confirmed) ACMG pathogenic g.658734G>A g.664945G>A PDE6B c.2193+1G>A, p.(?) - PDE6B_000063 heterozygous, mother – heterozygous c.2193+1G>A Father - heterozygous c.2215G>A, p.(Glu739Ly PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC080 50 PubMed: Khateb 2019 Family F4491, index - - - - - - - - 1 LOVD
+/. 18 c.2193+1G>A r.spl p.(?) Maternal (confirmed) ACMG pathogenic g.658734G>A g.664945G>A PDE6B c.2193+1G>A, p.(?) - PDE6B_000063 heterozygous, mother – heterozygous c.2193+1G>A Father - heterozygous c.2215G>A, p.(Glu739Ly PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC095 97 PubMed: Khateb 2019 Family F4491, sister - - - - - - - - 1 LOVD
+/. 18 c.2193+1G>A r.spl p.(?) Maternal (confirmed) ACMG pathogenic g.658734G>A g.664945G>A PDE6B c.2193+1G>A, p.(?) - PDE6B_000063 heterozygous; Father het c.1257+1G>A mother het c.2193+1G>A PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC041 17 PubMed: Khateb 2019 Family F1933 - - - - - - - - 1 LOVD
+/. - c.2193+1G>A r.(?) p.(?) Parent #2 - pathogenic g.658734G>A - c.2193+1G>A - PDE6B_000063 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.2193+1G>A r.(?) p.(?) Both (homozygous) - pathogenic g.658734G>A - c.2193+1G>A - PDE6B_000063 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
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