Full data view for gene PDE6H

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006205.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

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AscendingDNA change (cDNA)     

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+/. 5' UTR c.-42+1G>A r.spl p.(?) Paternal (confirmed) ACMG pathogenic g.15126021G>A g.14973087G>A - - PDE6H_000002 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 259 Tracewska 2021, MolVis in press sister F no Poland Slavic - - yes - 2 LOVD
+/. 5' UTR c.-42+1G>A r.spl p.(?) Paternal (confirmed) ACMG pathogenic g.15126021G>A g.14973087G>A - - PDE6H_000002 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 260 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+/. - c.35C>G r.(?) p.(Ser12Ter) Unknown - pathogenic g.15130981C>G g.14978047C>G PDE6H(NM_006205.2):c.35C>G (p.S12*) - PDE6H_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35C>G r.(?) p.(Ser12Ter) Unknown - pathogenic g.15130981C>G g.14978047C>G PDE6H(NM_006205.2):c.35C>G (p.S12*) - PDE6H_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.35C>G r.(?) p.(Ser12*) Both (homozygous) - likely pathogenic (recessive) g.15130981C>G - - - PDE6H_000001 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.35C>G r.(?) p.(Ser12*) Both (homozygous) ACMG pathogenic g.15130981C>G g.14978047C>G - - PDE6H_000001 - Tracewska 2021, MolVis in press - - Germline yes 0,00025 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 476 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 2 c.35C>G r.(?) p.(Ser12*) Maternal (inferred) ACMG pathogenic g.15130981C>G g.14978047C>G - - PDE6H_000001 - Tracewska 2021, MolVis in press - - Germline yes 0,00025 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 259 Tracewska 2021, MolVis in press sister F no Poland Slavic - - yes - 2 LOVD
+/. 2 c.35C>G r.(?) p.(Ser12*) Maternal (inferred) ACMG pathogenic g.15130981C>G g.14978047C>G - - PDE6H_000001 - Tracewska 2021, MolVis in press - - Germline yes 0,00025 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 260 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+/. - c.35C>G r.(?) p.(Ser12Ter) Unknown ACMG pathogenic g.15130981C>G g.14978047C>G PDE6H:NM_006205 c.C35G, p.S12X - PDE6H_000001 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-320 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+/. - c.35C>G r.(?) p.(Ser12*) Unknown - pathogenic g.15130981C>G - - - PDE6H_000001 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease BPE-022 PubMed: Langlo 2014 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.35C>G r.(?) p.(Ser12*) Both (homozygous) ACMG likely pathogenic (recessive) g.15130981C>G g.14978047C>G - - PDE6H_000001 - PubMed: Lin 2023, Journal: Lin 2023 - - Germline ? - - - - DNA SEQ-NG-I - Exome sequencing NDD Fam1PatIV4 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - 1 Barbara Vona
+?/. 1 c.35C>G r.(?) p.(Ser12*) Both (homozygous) - likely pathogenic g.15130981C>G g.14978047C>G PDE6H c.35C>G, p.(Ser12*) - PDE6H_000001 homozygous PubMed: Kohl 2012 - - Germline yes - - - - DNA SEQ blood whole-exome sequencing retinal disease NL-II:1 PubMed: Kohl 2012 - M - - Belgian - - - - 1 LOVD
+?/. 1 c.35C>G r.(?) p.(Ser12*) Both (homozygous) - likely pathogenic g.15130981C>G g.14978047C>G PDE6H c.35C>G, p.(Ser12*) - PDE6H_000001 homozygous PubMed: Kohl 2012 - - Germline yes - - - - DNA SEQ blood whole-exome sequencing retinal disease BE-II:1 PubMed: Kohl 2012 - M - - Belgian - - - - 1 LOVD
+?/. 1 c.35C>G r.(?) p.(Ser12*) Both (homozygous) - likely pathogenic g.15130981C>G g.14978047C>G PDE6H c.35C>G, p.(Ser12*) - PDE6H_000001 homozygous PubMed: Kohl 2012 - - Germline yes - - - - DNA SEQ blood whole-exome sequencing retinal disease BE-II:2 PubMed: Kohl 2012 - F - - Belgian - - - - 1 LOVD
+?/. - c.35C>G r.(?) p.(Ser12*) Both (homozygous) - likely pathogenic g.15130981C>G g.14978047C>G PDE6H c.35C>G, p.(Ser12*) - PDE6H_000001 homozygous PubMed: Pedurupillay 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease Patient II:1 PubMed: Pedurupillay 2016 parents were first-degree cousins - - - Pakistani - - - - 1 LOVD
+?/. - c.35C>G r.(?) p.(Ser12*) Both (homozygous) - likely pathogenic g.15130981C>G g.14978047C>G PDE6H c.35C>G, p.(Ser12*) - PDE6H_000001 homozygous PubMed: Pedurupillay 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease Patient II:2 PubMed: Pedurupillay 2016 parents were first-degree cousins - - - Pakistani - - - - 1 LOVD
+?/. - c.35C>G r.(?) p.(Ser12*) Unknown - VUS g.15130981C>G g.14978047C>G - - PDE6H_000001 - PubMed: Szakszon 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat21 PubMed: Szakszon 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.35C>G r.(?) p.(Ser12Ter) Both (homozygous) ACMG pathogenic (recessive) g.15130981C>G g.14978047C>G - - PDE6H_000001 ACMG PVS1, PS4, PM3, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam423Pat86 PubMed: Andersen 2023 family, 2 affected - yes Denmark - - - - - 2 Susanne Kohl
+/. - c.35C>G r.(?) p.(Ser12Ter) Both (homozygous) ACMG pathogenic (recessive) g.15130981C>G g.14978047C>G - - PDE6H_000001 ACMG PVS1, PS4, PM3, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam423Pat87 PubMed: Andersen 2023 sib - yes Denmark - - - - - 1 Susanne Kohl
+/. - c.35C>G r.(?) p.(Ser12Ter) Both (homozygous) ACMG pathogenic (recessive) g.15130981C>G g.14978047C>G - - PDE6H_000001 ACMG PVS1, PS4, PM3, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam409Pat88 PubMed: Andersen 2023 family, 3 affected - no Denmark - - - - - 3 Susanne Kohl
+/. - c.35C>G r.(?) p.(Ser12Ter) Both (homozygous) ACMG pathogenic (recessive) g.15130981C>G g.14978047C>G - - PDE6H_000001 ACMG PVS1, PS4, PM3, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam409Pat89 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
+/. - c.35C>G r.(?) p.(Ser12Ter) Both (homozygous) ACMG pathogenic (recessive) g.15130981C>G g.14978047C>G - - PDE6H_000001 ACMG PVS1, PS4, PM3, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam409Pat90 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
?/. - c.52A>C r.(?) p.(Thr18Pro) Unknown - VUS g.15130998A>C - PDE6H(NM_006205.2):c.52A>C (p.(Thr18Pro)) - PDE6H_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199G>T r.(?) p.(Glu67*) Unknown ACMG VUS g.15134357G>T g.14981423G>T PDE6H c.199G>T, p.(Glu67*) - PDE6H_000003 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 13_15 PubMed: Zhu 2022 family 13, individual 15 M - - - - - - - 1 LOVD
?/. - c.199G>T r.(?) p.(Glu67*) Unknown ACMG VUS g.15134357G>T g.14981423G>T PDE6H c.199G>T, p.(Glu67*) - PDE6H_000003 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 13_15 PubMed: Zhu 2022 family 13, individual 15 M - - - - - - - 1 LOVD
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