Full data view for gene PDE6A

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000440.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
Legend   How to query  

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.304C>A r.(?) p.(Arg102Ser) Unknown - likely pathogenic g.149323933G>T g.149944370G>T PDE6A(NM_000440.2):c.304C>A (p.R102S), PDE6A(NM_000440.3):c.304C>A (p.R102S) - PDE6A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.304C>A r.(?) p.(Arg102Ser) Unknown - likely pathogenic g.149323933G>T g.149944370G>T PDE6A(NM_000440.2):c.304C>A (p.R102S), PDE6A(NM_000440.3):c.304C>A (p.R102S) - PDE6A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 - likely pathogenic g.149323933G>T - - - PDE6A_000048 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG likely pathogenic g.149323933G>T - - - PDE6A_000048 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - pathogenic (recessive) g.149323933G>T g.149944370G>T - - PDE6A_000048 - PubMed: Maria 2015 - - Germline - - - - - DNA arraySNP, SEQ - - retinal disease Fam12 PubMed: Maria 2015 family - yes Pakistan - - - - - 5 LOVD
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
?/. 1 c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - VUS g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 2 LOVD
+?/. 1 c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG likely pathogenic g.149323933G>T g.149944370G>T c.304C>A , p.Arg102Ser - PDE6A_000048 Heterozygous PubMed: Birtel 2018 - rs141252097 Germline ? - - - - DNA SEQ blood - retinal disease 34 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG likely pathogenic g.149323933G>T g.149944370G>T GPR98 c.4379-1G>A, p.(?), c.17195del, p.(Pro5732Leufs*54),, pDE6A c.304C>A, p.(Arg102Ser) - PDE6A_000048 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 147 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Unknown - likely pathogenic g.149323933G>T g.149944370G>T c.304C>A, p.Arg102Ser - PDE6A_000048 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-412 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Cys) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A, p.R102C - PDE6A_000048 error in annotation: c.304C>A causes p.R102S and not p.R102C, compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 89 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Cys) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A, p.R102C - PDE6A_000048 error in annotation: c.304C>A causes p.R102S and not p.R102C, compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 91 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S - PDE6A_000048 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 609 PubMed: Weisschuh 2020 Filing key number: 219, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M - PDE6A_000048 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 799 PubMed: Weisschuh 2020 Filing key number: 316, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S - PDE6A_000048 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 807 PubMed: Weisschuh 2020 Filing key number: 322, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M - PDE6A_000048 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 1027 PubMed: Weisschuh 2020 Filing key number: 552, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.304C>A/p.R102S - PDE6A_000048 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1164 PubMed: Weisschuh 2020 Filing key number: 829, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 - likely pathogenic g.149323933G>T g.149944370G>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.1359_1361delinsCC/ p.V454Qfs*5 - PDE6A_000048 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1209 PubMed: Weisschuh 2020 Filing key number: 929, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 1 c.304C>A r.(?) p.(Arg102Ser) Unknown - likely pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. 1 c.304C>A r.(?) p.(Arg102Ser) Unknown - likely pathogenic (recessive) g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Colombo-2020 - rs141252097 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+?/. 1 c.304C>A r.(?) p.(Arg102Ser) Unknown - likely pathogenic (recessive) g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Colombo-2020 - rs141252097 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 1 c.304C>A r.(?) p.(Arg102Ser) Paternal (confirmed) ACMG likely pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A, p.(Arg102Ser) - PDE6A_000048 heterozygous PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC005 70 PubMed: Khateb 2019 Family F383 - - - - - - - - 1 LOVD
+?/. 1 c.304C>A r.(?) p.(Arg102Ser) Paternal (confirmed) ACMG likely pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A, p.(Arg102Ser) - PDE6A_000048 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC006 44 PubMed: Khateb 2019 Family F435 - - - - - - - - 1 LOVD
+?/. 1 c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG likely pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A, p.(Arg102Ser) - PDE6A_000048 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC069 49 PubMed: Khateb 2019 Family F3808 - - - - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Unknown - likely pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A, R102S - PDE6A_000048 homozygous PubMed: Chebil 2016 - - Unknown ? - - - - DNA arraySNP, SEQ - - retinal disease Family ? PubMed: Chebil 2016 2 patients, 1 family ? - France Tunisia - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Paternal (confirmed) - likely pathogenic g.149323933G>T g.149944370G>T PDE6A Arg102Ser (CGC to AGC) - PDE6A_000048 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Dryja 1999 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease 003-043 (II:1) PubMed: Dryja 1999 family 6877 F - - - - - - - 1 LOVD
+?/. - c.304C>A r.(?) p.(Arg102Ser) Paternal (confirmed) - likely pathogenic g.149323933G>T g.149944370G>T PDE6A Arg102Ser (CGC to AGC) - PDE6A_000048 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Dryja 1999 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease 003-043 (II:2) PubMed: Dryja 1999 family 6877 F - - - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 34 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 110 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 102 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 49 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 101 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 3 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 105 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 47 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 29 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 46 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 15 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 16 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Parent #1 ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 30 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 27 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 1 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic g.149323933G>T g.149944370G>T PDE6A c.304C>A/p.R102S - PDE6A_000048 HGMD: CM994742; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 7 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Parent #1 - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.304C>A r.(?) p.(Arg102Ser) Parent #1 - pathogenic g.149323933G>T - c.304C>A - PDE6A_000048 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.304C>A r.(?) p.(Arg102Ser) Both (homozygous) ACMG pathogenic (recessive) g.149323933G>T g.149944370G>T - - PDE6A_000048 ACMG PM2, PM5, PP5_STRONG PubMed: Weisschuh 2024 193099 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1185 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.304C>A r.(?) p.(Arg102Ser) Unknown ACMG pathogenic (recessive) g.149323933G>T g.149944370G>T - - PDE6A_000048 ACMG PM2, PM5, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-632 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.304C>A r.(?) p.(Arg102Ser) Parent #2 - pathogenic g.149323933G>T g.149944370G>T - - PDE6A_000048 - PubMed: Midgley 2024 - rs141252097 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat30 PubMed: Midgley 2024 - F - South Africa white - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.