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.

617 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

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     
?/. 1 c.-42C>T r.(?) p.(=) Unknown - VUS g.149324278G>A - c.-42C>T - PDE6A_000151 - PubMed: Anasagasti-2013 - rs113137904 Germline yes <0.01 - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
?/. 1 c.-42C>T r.(?) p.(=) Unknown - VUS g.149324278G>A - c.-42C>T - PDE6A_000151 - PubMed: Anasagasti-2013 - rs113137904 Germline yes <0.01 - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
+?/. - c.? r.? p.? Unknown ACMG likely pathogenic (recessive) g.149230182_149270203dup - - - RAD50_000000 ACMG PM2, PVS1; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-413 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.1A>G r.(?) p.(Met1?) Unknown ACMG likely pathogenic g.149324236T>C g.149944673T>C PDE6A c.1A>G, p.(Met1?), c.2332_2335del, p.(Asp778Leufs*42) - PDE6A_000140 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 164 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.38T>A r.(?) p.(Leu13Gln) Parent #1 - likely pathogenic g.149324199A>T g.149944636A>T PDE6A, variant 1: c.38T>A/p.L13Q, variant 2: c.2053G>A/p.V685M - PDE6A_000166 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1163 PubMed: Weisschuh 2020 Filing key number: 828, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.63_68del r.(?) p.(Lys21_Tyr23delinsAsn) Parent #1 ACMG likely pathogenic g.149324170_149324175del g.149944607_149944612del PDE6A c.63_68del/ p.K21_Y23delinsN - PDE6A_000198 HGMD: none; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 2 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.84C>G r.(?) p.(Tyr28Ter) Unknown - pathogenic g.149324153G>C g.149944590G>C - - PDE6A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.84C>G r.(?) p.(Tyr28*) Both (homozygous) ACMG likely pathogenic g.149324153G>C g.149944590G>C PDE6A c.84C>G/p.Y28* - PDE6A_000050 HGMD: none; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 35 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
?/. - c.85C>T r.(?) p.(Arg29Trp) Unknown - VUS g.149324152G>A g.149944589G>A PDE6A(NM_000440.2):c.85C>T (p.R29W) - PDE6A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.85C>T r.(?) p.(Arg29Trp) Both (homozygous) - likely pathogenic g.149324152G>A g.149944589G>A PDE6A Ex.1 c.85C>T p.(Arg29Trp), Ex.1 c.85C>T p.(Arg29Trp) - PDE6A_000093 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1700 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.86G>A r.(?) p.(Arg29Gln) Parent #1 - VUS g.149324151C>T g.149944588C>T - - PDE6A_000213 - PubMed: Peng 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat11 PubMed: Peng 2017 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
?/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - VUS g.149324149C>T g.149944586C>T PDE6A(NM_000440.2):c.88G>A (p.A30T) - PDE6A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102C>T r.(?) p.(Ser34=) Unknown - benign g.149324135G>A g.149944572G>A PDE6A(NM_000440.3):c.102C>T (p.S34=) - PDE6A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103G>A r.(?) p.(Asp35Asn) Unknown - VUS g.149324134C>T g.149944571C>T PDE6A(NM_000440.2):c.103G>A (p.D35N) - PDE6A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156G>A r.(?) p.(Pro52=) Unknown - likely benign g.149324081C>T - PDE6A(NM_000440.2):c.156G>A (p.P52=) - PDE6A_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.166G>T r.(?) p.(Glu56*) Both (homozygous) - pathogenic (recessive) g.149324071C>A - c.166G>T:p.E56X - PDE6A_000174 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
?/. - c.174C>A r.(?) p.(Ser58Arg) Unknown - VUS g.149324063G>T g.149944500G>T PDE6A(NM_000440.3):c.174C>A (p.S58R) - PDE6A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.177A>G r.(?) p.(Glu59=) Unknown - benign g.149324060T>C g.149944497T>C PDE6A(NM_000440.2):c.177A>G (p.E59=), PDE6A(NM_000440.3):c.177A>G (p.E59=) - PDE6A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177A>G r.(?) p.(Glu59=) Unknown - likely benign g.149324060T>C g.149944497T>C PDE6A(NM_000440.2):c.177A>G (p.E59=), PDE6A(NM_000440.3):c.177A>G (p.E59=) - PDE6A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196C>T r.(?) p.(Arg66Trp) Unknown - VUS g.149324041G>A g.149944478G>A - - PDE6A_000069 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs149945348 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.196C>T r.(?) p.(Arg66Trp) Both (homozygous) - VUS g.149324041G>A g.149944478G>A - - PDE6A_000069 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs149945348 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.196C>T r.(?) p.(Arg66Trp) Unknown - VUS g.149324041G>A - PDE6A(NM_000440.2):c.196C>T (p.R66W) - PDE6A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.205C>T r.(?) p.? Both (homozygous) - pathogenic g.149324032G>A - c.205C>T - PDE6A_000129 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
?/. - c.205C>T r.(?) p.(Gln69*) Maternal (confirmed) - VUS g.149324032G>A g.149944469G>A PDE6A nucleotide 1, protein 1:c.205C>T, p.Gln69* nucleotide 2, protein 2:c.2275-1G>A, p.? - PDE6A_000129 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 59 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. 1 c.205C>T r.(?) p.(Gln69*) Paternal (confirmed) ACMG pathogenic g.149324032G>A g.149944469G>A PDE6A c.205C>T, p.(Gln69*) - PDE6A_000129 heterozygous; mother, father and unaffected brother het c.1683G>A p.(Trp561 PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC047 74 PubMed: Khateb 2019 Family F2374 - - - - - - - - 1 LOVD
-?/. 1 c.251A>T r.(?) p.(Lys84Met) Unknown - likely benign g.149323986T>A - c.251A>T - PDE6A_000188 - PubMed: Men-2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease Patient 1 PubMed: Men-2017 - M - (United States) - - - - - 1 LOVD
+/. - c.268C>T r.(?) p.(Gln90Ter) Unknown - pathogenic g.149323969G>A g.149944406G>A - - PDE6A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282G>A r.(?) p.(Met94Ile) Unknown - VUS g.149323955C>T g.149944392C>T PDE6A(NM_000440.2):c.282G>A (p.M94I), PDE6A(NM_000440.3):c.282G>A (p.M94I) - PDE6A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282G>A r.(?) p.(Met94Ile) Unknown - VUS g.149323955C>T - PDE6A(NM_000440.2):c.282G>A (p.M94I), PDE6A(NM_000440.3):c.282G>A (p.M94I) - PDE6A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.285C>A r.(?) p.(Ser95Arg) Unknown ACMG likely pathogenic g.149323952G>T g.149944389G>T NM_000440.2:c.285C>A, NP_000431.2:p.(Ser95Arg), NC_000005.9:g.149323952G>T - PDE6A_000126 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101706 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 1 c.285C>A r.? p.(Ser95Arg) Unknown - likely pathogenic (recessive) g.149323952G>T - c.285C>A - PDE6A_000126 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 1 c.298C>T r.(?) p.(Arg100Trp) Unknown - likely pathogenic g.149323939G>A - c.298C>T - PDE6A_000131 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+?/. - 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
+?/. - c.304C>T r.(?) p.(Arg102Cys) Unknown - likely pathogenic g.149323933G>A g.149944370G>A - - PDE6A_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.304C>T r.(?) p.(Arg102Cys) Unknown - likely pathogenic g.149323933G>A g.149944370G>A c.304C>T, p.Arg102Cys - PDE6A_000047 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-036 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.304C>T r.(?) p.(Arg102Cys) Maternal (confirmed) - likely pathogenic g.149323933G>A g.149944370G>A PDE6A 304C>T, R102C - PDE6A_000047 within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description PubMed: Tsang 2008 - - Germline yes - - - - DNA ? - - retinal disease II-4 PubMed: Tsang 2008 - M - - - - - - - 1 LOVD
+?/. - c.304C>T r.(?) p.(Arg102Cys) Maternal (confirmed) - likely pathogenic g.149323933G>A g.149944370G>A PDE6A 304C>T, R102C - PDE6A_000047 within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description PubMed: Tsang 2008 - - Germline yes - - - - DNA ? - - retinal disease II-5 PubMed: Tsang 2008 - M - - - - - - - 1 LOVD
+?/. - c.304C>T r.(?) p.(Arg102Cys) Maternal (confirmed) - likely pathogenic g.149323933G>A g.149944370G>A PDE6A 304C>T, R102C - PDE6A_000047 within the sam publication also variants without ascribed individuals and zygosities: CRB1 (T745M and P836T), USH2A (E478D, L555V, W4149R, P1978S, G713R, E767fs, and C759F), and RPE65 (A132T) without nucleotide description PubMed: Tsang 2008 - - Germline yes - - - - DNA ? - - retinal disease II-8 PubMed: Tsang 2008 - M - - - - - - 1 gram daily of oral acetazolamide for three months with improvement of VA to 20/25 1 LOVD
+/. 1 c.304C>T r.(?) p.(Arg102Cys) Parent #1 - pathogenic g.149323933G>A - c.304C>T - PDE6A_000047 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.305G>A r.(?) p.(Arg102His) Both (homozygous) - likely pathogenic (recessive) g.149323932C>T - - - PDE6A_000102 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.305G>A r.(?) p.(Arg102His) Parent #1 - likely pathogenic g.149323932C>T g.149944369C>T - - PDE6A_000102 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/28 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. 1 c.305G>A r.(?) p.(Arg102His) Both (homozygous) - pathogenic g.149323932C>T - c.305G>A - PDE6A_000102 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 1 c.305G>A r.(?) p.(Arg102His) Both (homozygous) - pathogenic g.149323932C>T - c.305G>A - PDE6A_000102 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. 1 c.305G>A r.(?) p.(Arg102His) Both (homozygous) - likely pathogenic g.149323932C>T - c.305G>A - PDE6A_000102 - PubMed: Collin-2011 - - Germline yes - - - - DNA PCR, SEQ, arraySNP blood - retinal disease - PubMed: Collin-2011 - F - Netherlands - - - - - 1 LOVD
+?/. 1 c.305G>A r.(?) p.(Arg102His) Unknown - likely pathogenic g.149323932C>T g.149944369C>T PDE6A Ex.1 c.305G>A p.(Arg102His), Ex.1 c.305G>A p.(Arg102His), RPGRIP1: Ex.14 c.1767G>T p.(Gln589His) - PDE6A_000102 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-0881 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.305G>A r.(?) p.(Arg102His) Unknown ACMG VUS g.149323932C>T g.149944369C>T PDE6A c.G305A, p.R102H - PDE6A_000102 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 58 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. 1 c.305G>A r.(?) p.(Arg102His) Both (homozygous) ACMG pathogenic g.149323932C>T g.149944369C>T PDE6A c.305G>A, p.(Arg102His) - PDE6A_000102 heterozygous PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC036 80 PubMed: Khateb 2019 Family F1628, index - - - - - - - - 1 LOVD
+?/. - c.305G>A r.(?) p.(Arg102His) Paternal (confirmed) - likely pathogenic g.149323932C>T g.149944369C>T PDE6A Arg102His (CGC to CAC) - PDE6A_000102 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Dryja 1999 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease 003-040 (II:4) PubMed: Dryja 1999 family 5965 M - - - - - - - 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »


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