Full data view for gene CERKL


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the transcript reference sequence.

118 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - retinal disease 61219 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - RD 61373 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. - c.847C>T r.(?) p.(Arg283Ter) Unknown - pathogenic g.182423344G>A g.181558617G>A CERKL(NM_001030311.2):c.847C>T (p.R283*), CERKL(NM_001030311.3):c.847C>T (p.R283*) - CERKL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.847C>T r.(?) p.(Arg283Ter) Unknown - pathogenic g.182423344G>A g.181558617G>A CERKL(NM_001030311.2):c.847C>T (p.R283*), CERKL(NM_001030311.3):c.847C>T (p.R283*) - CERKL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.847C>T r.(?) p.(Arg283*) Parent #1 - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909398 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.847C>T r.(?) p.(Arg283*) Unknown ACMG pathogenic g.182423344G>A - - - CERKL_000003 - 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.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 2741 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease EC09 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic (recessive) g.182423344G>A - 2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter) - CERKL_000003 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240038 PubMed: Carss 2017 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic (recessive) g.182423344G>A - 2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter) - CERKL_000003 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001350 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic (recessive) g.182423344G>A - 2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter) - CERKL_000003 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004716 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic (recessive) g.182423344G>A - 2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter) - CERKL_000003 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000249 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic (recessive) g.182423344G>A - 2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter) - CERKL_000003 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005522 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Parent #2 - likely pathogenic (recessive) g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 14022025 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Parent #1 - pathogenic (recessive) g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat111 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Parent #2 - pathogenic (recessive) g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat12 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Wang 2017 - rs121909398 Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD20–07 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 264 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Parent #1 - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 265 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 345 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 9094 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 9094 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A NM_201548.4:c.769C>T - CERKL_000003 - PubMed: Bravo-Gil 2017 - - Germline yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat2 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat53 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat55 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 11010719 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13016156 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Ter) Parent #1 - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-1056 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Ter) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A 769C>T (Arg257*) - CERKL_000003 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Asper retinal disease Pat18 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Ter) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp73 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Ter) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp128 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283Ter) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A - - CERKL_000003 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam20 PubMed: Coppieters 2014 see paper - yes Belgium - - - - - 1 LOVD
?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - VUS g.182423344G>A - c.847C>T - CERKL_000003 - PubMed: Littink 2010 - - Germline - not in 200 controls - - - DNA SEQ - - retinal disease - PubMed: Littink 2010 - - no Canada French Canadian - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - - - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - - - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - - - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - - - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 These data were published before as a common phenotype - yes - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.769C>T (p.Arg257stop) - CERKL_000003 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A NM_001030311.2, c.847C>T, p.Arg283Ter - CERKL_000003 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP153, II:1 ? no Spain - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A NM_001030311.2, c.847C>T, p.Arg283Ter - CERKL_000003 - PubMed: Ezquerra-Inchausti 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Ezquerra-Inchausti 2018 Family RP169 ? ? Spain - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A NM_001030311.2, c.847C>T, p.Arg283Ter - CERKL_000003 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP176, II:1 ? no Spain - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A NM_001030311.2, c.847C>T, p.Arg283Ter - CERKL_000003 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP67, II:1 ? no Spain - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A NM_001030311.2, c.847C>T, p.Arg283Ter - CERKL_000003 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:2 PubMed: Ezquerra-Inchausti 2018 Family RP8, II:2 ? no Spain - - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A - c.847C>T - CERKL_000003 - PubMed: Khan-2013 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Khan-2013 - - yes Pakistan Pakistani - - - - 1 LOVD
+/. 6 c.847C>T r.(?) p.(Arg283*) Unknown ACMG pathogenic g.182423344G>A g.181558617G>A c.847C>T, p.Arg283* - CERKL_000003 Heterozygous PubMed: Birtel 2018 - rs886044730 Germline yes - - - - DNA SEQ-NG blood - retinal disease 44 PubMed: Birtel 2018 - M - Germany - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown ACMG pathogenic g.182423344G>A g.181558617G>A CERKL c.772G>A, p.(Gly258Arg), c.847C>T, p.(Arg283*) - CERKL_000003 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 79 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Unknown ACMG likely pathogenic g.182423344G>A g.181558617G>A CERKL c.847C>T, p.(Arg283*) - CERKL_000003 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 379 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Ter) Unknown - pathogenic g.182423344G>A - CERKL(NM_001030311.2):c.847C>T (p.R283*), CERKL(NM_001030311.3):c.847C>T (p.R283*) - CERKL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A c.847C>T, r.(?) - CERKL_000003 different transcript, ENST00000339098: homozygous PubMed: Wolock 2019 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 4619 PubMed: Wolock 2019 - - - United States - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A c.847C>T, r.(?) - CERKL_000003 different transcript, ENST00000339098: homozygous PubMed: Wolock 2019 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 4645 PubMed: Wolock 2019 - - - United States - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0057 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-0211 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-0218 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-0325 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0657 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0719 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0828 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1361 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1419 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1562 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1565 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1676 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-1719 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-2164 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.1 c.182T>A p.(Val61Glu), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2225 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*) - CERKL_000003 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2823 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A c.847C>T, p.(Arg283*) - CERKL_000003 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066871 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283Ter) Both (homozygous) ACMG pathogenic g.182423344G>A g.181558617G>A CERKL:NM_001030311 c.C847T, p.R283X - CERKL_000003 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-475 PubMed: Rodriguez-Munoz 2020 family fRPN-211, proband F - Spain - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) ACMG pathogenic g.182423344G>A g.181558617G>A CERKL:NM_001030311 c.C847T, p.R283X - CERKL_000003 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-113 PubMed: Rodriguez-Munoz 2020 family fRPN-43, proband F - Spain - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) ACMG pathogenic g.182423344G>A g.181558617G>A CERKL:NM_001030311 c.C847T, p.R283X - CERKL_000003 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-114 PubMed: Rodriguez-Munoz 2020 family fRPN-43, family member F - Spain - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic g.182423344G>A g.181558617G>A c.847C>T, p.Arg283Ter - CERKL_000003 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2892_004477 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A c.847C>T in CERKL - CERKL_000003 homozygous PubMed: Nadeem 2020 - - Germline/De novo (untested) yes - - - - DNA STR, SEQ blood targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes retinal disease 8 PubMed: Nadeem 2020 Family PKRP373 M yes Pakistan - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A c.847C>T in CERKL - CERKL_000003 homozygous PubMed: Nadeem 2020 - - Germline/De novo (untested) yes - - - - DNA STR, SEQ blood targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes retinal disease 9 PubMed: Nadeem 2020 Family PKRP373 M yes Pakistan - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A c.847C>T in CERKL - CERKL_000003 homozygous PubMed: Nadeem 2020 - - Germline/De novo (untested) yes - - - - DNA STR, SEQ blood targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes retinal disease 10 PubMed: Nadeem 2020 Family PKRP373 M yes Pakistan - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A CERKL c.847C>T, p.Arg283Ter - CERKL_000003 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G004716 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Both (homozygous) - pathogenic g.182423344G>A g.181558617G>A CERKL c.847C>T, p.Arg283Ter - CERKL_000003 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000249 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic g.182423344G>A g.181558617G>A CERKL c.847C>T, p.Arg283Ter - CERKL_000003 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001350 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A CERKL c.847C>T, p.Arg283Ter - CERKL_000003 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005522 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A CERKL c.847C>T c.1651A>T, p.Arg283* p.Ser551Cys - CERKL_000003 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 112 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.182423344G>A g.181558617G>A CERKL c.847C>T c.1651A>T, p.Arg283* p.Ser551Cys - CERKL_000003 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 115 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - VUS g.182423344G>A - c.847C>T - CERKL_000003 - PubMed: Colombo-2020 - rs121909398 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL p.Arg257ter - CERKL_000003 homozygous PubMed: Avila-Fernandez 2008 - - Germline yes - - - - DNA SEQ - - retinal disease 211 PubMed: Avila-Fernandez 2008 Spanish family from Almeria ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL p.Arg257ter - CERKL_000003 homozygous PubMed: Avila-Fernandez 2008 - - Germline yes - - - - DNA SEQ - - retinal disease 828 PubMed: Avila-Fernandez 2008 Spanish family from Toledo ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL p.Arg257ter - CERKL_000003 homozygous PubMed: Avila-Fernandez 2008 - - Germline yes - - - - DNA SEQ - - retinal disease 218 PubMed: Avila-Fernandez 2008 Spanish family from Burgos ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL p.Arg257ter - CERKL_000003 homozygous PubMed: Avila-Fernandez 2008 - - Germline yes - - - - DNA SEQ - - retinal disease 320-1 PubMed: Avila-Fernandez 2008 Spanish family from Burgos ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL p.Arg257ter - CERKL_000003 homozygous PubMed: Avila-Fernandez 2008 - - Germline yes - - - - DNA SEQ - - retinal disease 320-2 PubMed: Avila-Fernandez 2008 Spanish family from Burgos ? - Spain - - - - - 1 LOVD
+?/. 6 c.847C>T r.(?) p.(Arg283*) Both (homozygous) - likely pathogenic g.182423344G>A g.181558617G>A CERKL p.Arg257ter - CERKL_000003 homozygous PubMed: Avila-Fernandez 2008 - - Germline yes - - - - DNA SEQ - - retinal disease 325 PubMed: Avila-Fernandez 2008 Spanish family from Sevilla ? - Spain - - - - - 1 LOVD
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