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.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

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AscendingDNA change (cDNA)     

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+/. 5 c.892C>T r.(?) p.(Gln298*) Parent #2 - pathogenic g.647908C>T g.654119C>T - - PDE6B_000015 - PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. 5 c.892C>T r.(?) p.(Gln298*) Parent #1 - pathogenic g.647908C>T g.654119C>T - - PDE6B_000015 - PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.892C>T r.(?) p.(Gln298Ter) Unknown - pathogenic g.647908C>T g.654119C>T PDE6B(NM_000283.4):c.892C>T (p.Q298*) - PDE6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Gln298Ter) Unknown - pathogenic g.647908C>T g.654119C>T PDE6B(NM_000283.4):c.892C>T (p.Q298*) - PDE6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Gln298*) Unknown - pathogenic (recessive) g.647908C>T - 4:647908C>T ENST00000496514.1:c.892C>T (Gln298Ter) - PDE6B_000015 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G006001 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - pathogenic g.647908C>T g.654119C>T - - PDE6B_000015 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat5 PubMed: Comander 2017 proband M - United States - - - - - 1 Johan den Dunnen
+/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - pathogenic g.647908C>T g.654119C>T - - PDE6B_000015 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease UGQ+Q.72 PubMed: Ge 2015 simplex case - - United States - - - - - 1 LOVD
+/. - c.892C>T r.(?) p.(Gln298Ter) Both (homozygous) - pathogenic g.647908C>T g.654119C>T Q298* - PDE6B_000015 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP-1712PatII2 PubMed: Sanchez-Alcudia 2014 2-generation family, 4 affect sibs (F, 3M) F - Spain - - - - - 4 LOVD
+/. - c.892C>T r.(?) p.(Gln298Ter) Both (homozygous) - pathogenic g.647908C>T g.654119C>T Q298* - PDE6B_000015 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP-1712PatII4 PubMed: Sanchez-Alcudia 2014 brother M - Spain - - - - - 1 LOVD
+/. - c.892C>T r.(?) p.(Gln298Ter) Both (homozygous) - pathogenic g.647908C>T g.654119C>T Q298* - PDE6B_000015 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP-1712PatII6 PubMed: Sanchez-Alcudia 2014 brother M - Spain - - - - - 1 LOVD
+/. - c.892C>T r.(?) p.(Gln298*) Both (homozygous) - pathogenic g.647908C>T g.654119C>T PDE6B c.892C>T, p.Gln298Ter - PDE6B_000015 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-040 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.892C>T r.(?) p.(Gln298*) Unknown - pathogenic g.647908C>T g.654119C>T c.892C>T, p.Gln298Ter - PDE6B_000015 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-040 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - likely pathogenic g.647908C>T g.654119C>T PDE6B, variant 1: c.892C>T/p.Q298*, variant 2: c.2003A>G/p.D668G - PDE6B_000015 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 46 PubMed: Weisschuh 2020 Filing key number: 26, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - likely pathogenic g.647908C>T g.654119C>T PDE6B, variant 1: c.892C>T/p.Q298*, variant 2: c.2003A>G/p.D668G - PDE6B_000015 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 47 PubMed: Weisschuh 2020 Filing key number: 26, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - likely pathogenic g.647908C>T g.654119C>T PDE6B, variant 1: c.892C>T/p.Q298*, variant 2: c.886G>T/p.E296* - PDE6B_000015 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 359 PubMed: Weisschuh 2020 Filing key number: 120, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - likely pathogenic g.647908C>T g.654119C>T PDE6B, variant 1: c.892C>T/p.Q298*, variant 2: c.892C>T/p.Q298* - PDE6B_000015 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 1137 PubMed: Weisschuh 2020 Filing key number: 786, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - likely pathogenic g.647908C>T g.654119C>T PDE6B, variant 1: c.892C>T/p.Q298*, variant 2: c.892C>T/p.Q298* - PDE6B_000015 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1262 PubMed: Weisschuh 2020 Filing key number: 1056, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.892C>T r.(?) p.(Gln298*) Unknown - pathogenic g.647908C>T g.654119C>T PDE6B c.892C>T, p.Gln298Ter - PDE6B_000015 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G006001 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 5 c.892C>T r.(?) p.(Gln298*) Unknown - likely pathogenic g.647908C>T - c.892C>T - PDE6B_000015 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Unknown ACMG pathogenic g.647908C>T g.654119C>T Variant 1: c.892C>T;p.(Q298*), Variant 2: c.886G>T;p.(E296*) - PDE6B_000015 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease LCA120-28043 PubMed: Kuehlewein 2021 - M - - - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Both (homozygous) ACMG pathogenic g.647908C>T g.654119C>T Variant 1: c.892C>T;p.(Q298*), Variant 2: c.892C>T;p.(Q298*) - PDE6B_000015 - PubMed: Kuehlewein 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease SRP1056-29774 PubMed: Kuehlewein 2021 - M - - - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Parent #1 ACMG pathogenic g.647908C>T g.654119C>T Variant 1: c.892C>T;p.(Q298*), Variant 2: c.2003A>G;(p.D668G) - PDE6B_000015 - PubMed: Kuehlewein 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease ARRP26-21885 PubMed: Kuehlewein 2021 sibling of ARRP26-18556 M - - - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Both (homozygous) ACMG likely pathogenic g.647908C>T g.654119C>T Variant 1: c.892C>T;p.(Q298*), Variant 2: c.892C>T;p.(Q298*) - PDE6B_000015 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease SRP786-22723 PubMed: Kuehlewein 2021 - F - - - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Parent #1 ACMG likely pathogenic g.647908C>T g.654119C>T Variant 1: c.892C>T;p.(Q298*), Variant 2: c.2003A>G;(p.D668G) - PDE6B_000015 - PubMed: Kuehlewein 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease ARRP26-18556 PubMed: Kuehlewein 2021 sibling of ARRP26-21885 F - - - - - - - 1 LOVD
+?/. - c.892C>T r.(?) p.(Gln298*) Unknown ACMG pathogenic g.647908C>T g.654119C>T Variant 1: c.221dup;p.(V75Rfs*91), Variant 2: c.892C>T;p.(Q298*) - PDE6B_000015 - PubMed: Kuehlewein 2021 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease SRP754-21728 PubMed: Kuehlewein 2021 - M - - - - - - - 1 LOVD
+/. 5 c.892C>T r.(?) p.(Gln298*) Both (homozygous) ACMG pathogenic g.647908C>T g.654119C>T PDE6B c.892C>T, p.(Gln298*) - PDE6B_000015 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC032 78 PubMed: Khateb 2019 Family F1385 - - - - - - - - 1 LOVD
+/. 5 c.892C>T r.(?) p.(Gln298*) Maternal (confirmed) ACMG pathogenic g.647908C>T g.654119C>T PDE6B c.892C>T, p.(Gln298*) - PDE6B_000015 heterozygous; unaffected brother, sister and mother - het c.892C>T p.(Gln298*) PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC032 45 PubMed: Khateb 2019 Family F1372 - - - - - - - - 1 LOVD
+/. - c.892C>T r.(?) p.(Gln298*) Parent #1 - pathogenic g.647908C>T - c.892C>T - PDE6B_000015 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
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