Full data view for gene CRB1


The expert classification of the variants can be found here.

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_201253.2 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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     
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 This change has been considered as likely pathogenic regardless poor conservation and low pathogenicity predictions. The decision was based on the genetic data - cosegregation, lack in the control alleles PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - RPar - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 This change has been considered as likely pathogenic regardless poor conservation and low pathogenicity predictions. The decision was based on the genetic data - cosegregation, lack in the control alleles PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - pathogenic g.197396745C>T g.197427615C>T 2425C>T - CRB1_000005 not in 100 controls PubMed: den Hollander 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? Netherlands Dutch - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T Arg764Cys - CRB1_000005 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 2/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 unknown variant 2nd chromosome PubMed: Jacobson 2003 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - F ? United States American - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 unknown variant 2nd chromosome PubMed: Jacobson 2003 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - F ? United States American - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 not in 96 controls PubMed: Hanein 2004 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Hanein 2004 - ? ? - ? - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: den Hollander 2004 - - Germline - - - - - DNA SSCA, PCR, SEQ - - RP12 - PubMed: den Hollander 2004 - ? ? - ? - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T Arg764Cys - CRB1_000005 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T Arg764Cys - CRB1_000005 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.Arg(764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T p.Arg764Cys - CRB1_000005 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, DHPLC - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Maternal (confirmed) - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Cordovez 2013 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Cordovez 2013 - F ? United States American - - - - 1 Frans Cremers
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - pathogenic g.197396745C>T g.197427615C>T 2425C>T - CRB1_000005 not in 100 controls PubMed: den Hollander 1999 - - Germline - - Hpy188III+ - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? Netherlands Dutch - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T Arg764Cys - CRB1_000005 - PubMed: Lotery 2001 - - Germline - 2/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Maternal (confirmed) - pathogenic g.197396745C>T g.197427615C>T 2425C->T - CRB1_000005 not in 180 controls PubMed: Hollander 2001 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Hollander 2001 2-generation family, 2-affected M no - ? - - - - 2 Frans Cremers
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Maternal (confirmed) - pathogenic g.197396745C>T g.197427615C>T 2425C->T - CRB1_000005 not in 180 controls PubMed: Hollander 2001 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Hollander 2001 2-generation family, 2-affected M no - ? - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T R764C - CRB1_000005 - PubMed: Galvin 2005 - - Germline - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Galvin 2005 - ? ? - ? - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T Arg764Cys - CRB1_000005 not in 60 controls PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - RP12 - PubMed: Booij 2005 - ? no Netherlands Dutch - - - - 1 Frans Cremers
+/. 7 c.2290C>T r.(?) p.Arg764Cys Unknown - pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.Arg(764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T p.Arg764Cys - CRB1_000005 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T p.Arg764Cys - CRB1_000005 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration Pat15 PubMed: Aleman 2011 family, 2 affected F ? United States American - - - - 2 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T p.Arg764Cys - CRB1_000005 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration Pat21 PubMed: Aleman 2011 sib of Pat15 M ? United States American - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T c.2234C>T - CRB1_000005 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, MCA - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Glockle 2013 - - Germline - - - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease - PubMed: Glockle 2013 - ? ? - ? - - - - 1 Frans Cremers
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: de Castro-Miró 2014 - - Germline yes - - - - DNA SEQ-NG-I Whole blood - retinal disease - PubMed: de Castro-Miró 2014 - F no Spain - - - - - 1 Marta de Castro-Miró
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown - pathogenic g.197396745C>T g.197427615C>T CRB1(NM_001257965.1):c.2083C>T (p.R695C) - CRB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown - pathogenic g.197396745C>T g.197427615C>T CRB1(NM_001257965.1):c.2083C>T (p.R695C) - CRB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) - pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - F - - - - - - - 1 Marta de Castro-Miró
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T - - - CRB1_000005 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) - pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3793 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - VUS g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease EC04 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #2 - pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3043 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #2 - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 14 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #2 - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 960 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat44 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13013774 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 353 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - VUS g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1688659 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/+? 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic (recessive) g.197396745C>T - R764C - CRB1_000005 - PubMed: Jacobson 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 - - - - - - - - - 1 Julia Lopez
+/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #2 - pathogenic (recessive) g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-149-401 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) ACMG pathogenic g.197396745C>T g.197427615C>T CRB1 c.2290C>T, p.(Arg764Cys), c.2290C>T, p.(Arg764Cys) - CRB1_000005 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 97 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown ACMG pathogenic g.197396745C>T g.197427615C>T CRB1 c.1182C>A, p.(Cys394*), c.2290C>T, p.(Arg764Cys) - CRB1_000005 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 100 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown ACMG pathogenic g.197396745C>T g.197427615C>T CRB1 c.2290C>T, p.(Arg764Cys), c.2843G>A, p.(Cys948Tyr) - CRB1_000005 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 101 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - likely pathogenic g.197396745C>T g.197427615C>T CRB1 Ex.2 c.498_506del p.(Ile167_Gly169del), Ex.7 c.2290C>T p.(Arg764Cys) - CRB1_000005 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0745 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown ACMG pathogenic g.197396745C>T g.197427615C>T CRB1 NM_201253: g.226154C>T, c.2290C>T, p. R764C - CRB1_000005 - PubMed: Xu 2020 - - Unknown ? - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19607 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) - likely pathogenic g.197396745C>T - c.2290C>T - CRB1_000005 - PubMed: de Castro-Miró-2014 - - Germline - - - - - DNA arraySNP - RD-xip retinal disease 23NCE PubMed: de Castro-Miró-2014 - F - - - - - - - 2 LOVD
?/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown - VUS g.197396745C>T - - - CRB1_000005 - - - rs62635654 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - pathogenic (recessive) g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Lingao 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease Pat7 PubMed: Lingao 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T g.197427615C>T CRB1, variant 1: c.2290C>T/p.R764C, variant 2: c.2843G>A/p.C948Y - CRB1_000005 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 422 PubMed: Weisschuh 2020 Filing key number: 136, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T g.197427615C>T CRB1, variant 1: c.2290C>T/p.R764C, variant 2: c.2843G>A/p.C948Y - CRB1_000005 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 423 PubMed: Weisschuh 2020 Filing key number: 136, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T g.197427615C>T CRB1, variant 1: c.2290C>T/p.R764C, variant 2: c.2401A>T/p.K801* - CRB1_000005 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 859 PubMed: Weisschuh 2020 Filing key number: 355, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T g.197427615C>T CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c.2290C>T/p.R764C - CRB1_000005 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 274 PubMed: Weisschuh 2020 Filing key number: 92, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T g.197427615C>T CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c.2290C>T/p.R764C - CRB1_000005 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 275 PubMed: Weisschuh 2020 Filing key number: 92, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T g.197427615C>T CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c.2290C>T/p.R764C - CRB1_000005 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 276 PubMed: Weisschuh 2020 Filing key number: 92, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Parent #1 - likely pathogenic g.197396745C>T - c.2290C>T - CRB1_000005 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - pathogenic (recessive) g.197396745C>T - c.C2290T - CRB1_000005 - PubMed: Yang-2016 - - Germline - 0/1000 control - - - DNA SEQ, SEQ-NG blood WES retinal disease RP-IC-90: I:1 PubMed: Yang-2016 den Hollander AI M - India Indian - - - - 1 LOVD
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown - pathogenic (recessive) g.197396745C>T - c.C2290T - CRB1_000005 - PubMed: Yang-2016 - - Germline - 0/1000 control - - - DNA SEQ, SEQ-NG blood WES retinal disease RP-IC-90: I:2 PubMed: Yang-2016 den Hollander AI F - India Indian - - - - 1 LOVD
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) - pathogenic (recessive) g.197396745C>T - c.C2290T - CRB1_000005 - PubMed: Yang-2016 - - Germline - 0/1000 control - - - DNA SEQ, SEQ-NG blood WES retinal disease RP-IC-90: II:1 PubMed: Yang-2016 den Hollander AI M - India Indian - - - - 1 LOVD
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Parent #2 - likely pathogenic (recessive) g.197396745C>T - c.2290C>T - CRB1_000005 - PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease MEH4-gc22882 PubMed: Khan-2018 - F no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Both (homozygous) - pathogenic g.197396745C>T - c.2290C>T - CRB1_000005 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Parent #2 - pathogenic g.197396745C>T - c.2290C>T - CRB1_000005 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown ACMG pathogenic g.197396745C>T - - - CRB1_000005 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1066490 rs62635654 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3781750 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown ACMG pathogenic (recessive) g.197396745C>T g.197427615C>T - - CRB1_000005 ACMG PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 5732 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1155 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.2290C>T r.(?) p.(Arg764Cys) Unknown ACMG pathogenic (recessive) g.197396745C>T g.197427615C>T - - CRB1_000005 ACMG PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1279 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.2290C>T r.(?) p.(Arg764Cys) Parent #1 ACMG pathogenic g.197396745C>T g.197427615C>T - - CRB1_000005 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070834 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 7 c.2290C>T r.(?) p.(Arg764Cys) Unknown ACMG likely pathogenic (recessive) g.197396745C>T g.197427615C>T - - CRB1_000005 ACMG PM1, PM2, PM3, PM5, PP2, PP5, BP4 - ClinVar1066490 rs62635654 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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