Full data view for gene PDE6G

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002602.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Technique     

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Disease     

ID_report     

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Gender     

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Age at death     

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Data_av     

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Panel size     

Owner     
-?/. - c.-128G>A r.(=) p.(=) Parent #1 - likely benign g.79623591C>T g.81656561C>T - - PDE6G_000007 51 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56125934 Germline - 51/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 51 Mohammed Faruq
-?/. - c.-128G>A r.(=) p.(=) Both (homozygous) - likely benign g.79623591C>T g.81656561C>T - - PDE6G_000007 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56125934 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.-60+1_-60+16del r.spl p.? Unknown ACMG VUS g.79623507_79623522del g.81656477_81656492del - - PDE6G_000018 ACMG PM2, BP4; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-584 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
-?/. - c.-60+3G>A r.spl? p.? Unknown - likely benign g.79623520C>T g.81656490C>T PDE6G(NM_002602.3):c.-60+3G>A - PDE6G_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.-13del r.(=) p.(=) Unknown - likely benign g.79620348del - c.-14delC - PDE6G_000014 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-95 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.79620335T>C - PDE6G(NM_002602.4):c.1A>G (p.M1?) - PDE6G_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6C>A r.(?) p.(Asn2Lys) Unknown - VUS g.79620330G>T g.81653300G>T - - PDE6G_000005 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs766951952 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.6C>A r.(?) p.(Asn2Lys) Unknown - likely pathogenic (recessive) g.79620330G>T g.81653300G>T - - PDE6G_000005 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP234 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.6C>A r.(?) p.(Asn2Lys) Unknown - likely pathogenic (recessive) g.79620330G>T g.81653300G>T - - PDE6G_000005 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP331 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+?/. - c.6C>A r.(?) p.(Asn2Lys) Unknown - likely pathogenic (recessive) g.79620330G>T g.81653300G>T - - PDE6G_000005 - PubMed: Xu 2014 - - Germline - 3/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP382 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
-/. - c.51C>T r.(?) p.(Ala17=) Unknown - benign g.79620285G>A g.81653255G>A PDE6G(NM_002602.3):c.51C>T (p.A17=), PDE6G(NM_002602.4):c.51C>T (p.A17=) - PDE6G_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51C>T r.(?) p.(Ala17=) Unknown - likely benign g.79620285G>A g.81653255G>A PDE6G(NM_002602.3):c.51C>T (p.A17=), PDE6G(NM_002602.4):c.51C>T (p.A17=) - PDE6G_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56G>T r.(?) p.(Gly19Val) Both (homozygous) - VUS g.79620280C>A g.81653250C>A - - PDE6G_000004 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. 2 c.69dup r.(?) p.(Arg24Glnfs*6) Both (homozygous) - likely pathogenic g.79620271dup g.81653241dup PDE6G Ex.2 c.69dup p.(Arg24Glnfs*6), Ex.2 c.69dup p.(Arg24Glnfs*6) - PDE6G_000012 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-3027 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.74A>G r.(?) p.(Lys25Arg) Unknown - VUS g.79620262T>C g.81653232T>C - - PDE6G_000011 - PubMed: Wang 2014 - rs113370432 Germline - - - - - DNA SEQ - - - - - - - - - - - - - - - -
+?/. 2 c.100C>T r.(?) p.(Gln34*) Parent #1 - likely pathogenic g.79620236G>A - c.100C>T - PDE6G_000017 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.109C>T r.(?) p.(Gln37Ter) Parent #1 - pathogenic g.79620227G>A g.81653197G>A - - PDE6G_000010 - PubMed: Khan 2017 - - Germline - - - - - DNA SEQ-NG - 105-gene panel retinal disease 30120 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.109C>T r.(?) p.(Gln37Ter) Both (homozygous) - likely pathogenic g.79620227G>A g.81653197G>A - - PDE6G_000010 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 25 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.136G>C r.(?) p.(Gly46Arg) Unknown - VUS g.79620200C>G g.81653170C>G - - PDE6G_000009 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. 2i c.146+1G>T r.spl? p.(?) Both (homozygous) - likely pathogenic g.79620189C>A - c.146+1G>T - PDE6G_000016 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
-?/. - c.146+3A>G r.spl? p.? Unknown - likely benign g.79620187T>C - PDE6G(NM_002602.4):c.146+3A>G - PDE6G_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Asp52=) Unknown - benign g.79618706G>A g.81651676G>A PDE6G(NM_002602.3):c.156C>T (p.D52=), PDE6G(NM_002602.4):c.156C>T (p.D52=) - PDE6G_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156C>T r.(?) p.(Asp52=) Unknown - benign g.79618706G>A g.81651676G>A PDE6G(NM_002602.3):c.156C>T (p.D52=), PDE6G(NM_002602.4):c.156C>T (p.D52=) - PDE6G_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.187G>T r.(?) p.(Asp63Tyr) Parent #2 - VUS g.79618675C>A - c.187G>T - PDE6G_000015 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 3i c.187+1G>T r.spl p.? Both (homozygous) - pathogenic g.79618674C>A g.81651644C>A - - PDE6G_000003 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+/. - c.187+1G>T r.spl p.? Unknown ACMG pathogenic g.79618674C>A - - - PDE6G_000003 - PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 4 IRD families - - Israel - - - - - 4 Global Variome, with Curator vacancy
+/. 3i c.187+1G>T r.(187_188ins[u;187+2_187+28]) p.? Both (homozygous) - pathogenic (recessive) g.79618674C>A - - - PDE6G_000003 effect on splicing predicted form expression cloning mini-gene PubMed: Dvir 2010 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease FamTB14 PubMed: Dvir 2010 extended 4-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab Muslim - - - - 1 Johan den Dunnen
+?/. 3i c.187+1G>T r.spl? p.(?) Both (homozygous) - likely pathogenic g.79618674C>A - c.187+1G>T - PDE6G_000003 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.206del r.(?) p.(Pro69Leufs*25) Parent #1 - likely pathogenic g.79618164del g.81651134del PDE6G, variant 1: c.206del/p.P69Lfs*25, variant 2: c.206del/p.P69Lfs*25 - PDE6G_000013 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 815 PubMed: Weisschuh 2020 Filing key number: 332, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
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