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.

80 entries on 1 page. Showing entries 1 - 80.
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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.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #2 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - RPar - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T 2536A->T - CRB1_000007 - PubMed: Hollander 2001 - - Germline - - BfaI+ - - DNA PCR, SEQ - - LCA - PubMed: Hollander 2001 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T 2536A->T - CRB1_000007 - PubMed: Hollander 2001 - - Germline - - BfaI+ - - DNA PCR, SEQ - - retinal disease - PubMed: Hollander 2001 2-generation family, 3-affected F no - ? - - - - 3 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T 2536A->T - CRB1_000007 - PubMed: Hollander 2001 - - Germline - - BfaI+ - - DNA PCR, SEQ - - retinal disease - PubMed: Hollander 2001 2-generation family,3-affected M no - ? - - - - 3 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T 2536A->T - CRB1_000007 - PubMed: Hollander 2001 - - Germline - - BfaI+ - - DNA PCR, SEQ - - retinal disease - PubMed: Hollander 2001 2-generation family, 3-affected M no - ? - - - - 3 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801Stop - CRB1_000007 - PubMed: Jacobson 2003 - - Unknown - - BfaI+ - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - M ? United States American - - - - 2 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T c.2536A>T - CRB1_000007 not in 60 controls PubMed: Booij 2005 - - Germline - - BfaI+ - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - ? ? Netherlands Dutch - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Yzer 2006 - - Germline - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Yzer 2006 - - Germline - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Yzer 2006 - - Germline - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 unknown variant 2nd chromosome PubMed: Yzer 2006 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Simonelli 2007 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801STOP - CRB1_000007 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 8 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T p.Lys801X - CRB1_000007 - PubMed: Aleman 2011 - - Germline - - BfaI+ - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T p.K801X - CRB1_000007 - PubMed: Strom 2012 - - Germline - - BfaI+ - - DNA SEQ-NG-I - - STGD - PubMed: Strom 2012 - M no United States American - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Corton 2013 - - Germline - - BfaI+ - - DNA arraySNP - - LCA - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T 2536A->T - CRB1_000007 - PubMed: Hollander 2001 - - Germline - - BfaI+ - - DNA PCR, SEQ - - LCA - PubMed: Hollander 2001 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T 2536A->T - CRB1_000007 - PubMed: Hollander 2001 - - Germline - - BfaI+ - - DNA PCR, SEQ - - LCA - PubMed: Hollander 2001 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T Lys801Stop - CRB1_000007 - PubMed: Jacobson 2003 - - Unknown - - BfaI+ - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - M ? United States American - - - - 2 Frans Cremers
+?/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: den Hollander 2004 - - Germline - - BfaI+ - - DNA SSCA, PCR, SEQ - - RP12 - PubMed: den Hollander 2004 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T K801X - CRB1_000007 - PubMed: Galvin 2005 - - Germline - - BfaI+ - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Galvin 2005 - ? ? - ? - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Simonelli 2007 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 7 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 2 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Coppieters 2010 - - Unknown - - BfaI+ - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 2 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T p.K801X - CRB1_000007 - PubMed: Strom 2012 - - Germline - - BfaI+ - - DNA SEQ-NG-I - - STGD - PubMed: Strom 2012 - M no United States American - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Corton 2013 - - Germline - - BfaI+ - - DNA arraySNP - - LCA - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Eisenberger 2013 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - - retinal disease - PubMed: Eisenberger 2013 - ? ? - ? - - - - 1 Frans Cremers
+/. - c.2401A>T r.(?) p.(Lys801Ter) Unknown - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 16 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 408 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13012618 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Both (homozygous) - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13017339 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13009681 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13009682 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12007024 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 11000824 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.2401A>T r.(?) p.(Lys801*) Both (homozygous) - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Ge 2015 - - Germline - - - - - DNA SEQ-NG - 195-gene panel retinal disease VGJ+4.64 PubMed: Ge 2015 family - - United States - - - - - 1 LOVD
+/. - c.2401A>T r.(?) p.(Lys801Ter) Parent #2 - pathogenic (recessive) g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-513-1053 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.2401A>T r.(?) p.(Lys801Ter) Parent #2 - pathogenic (recessive) g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-513-1054 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 7 c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T - c.2401A>T - CRB1_000007 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+/. - c.2401A>T r.(?) p.(Lys801*) Unknown ACMG pathogenic g.197396856A>T g.197427726A>T CRB1 c.1892A>G, p.(Tyr631Cys), c.2401A>T, p.(Lys801*) - CRB1_000007 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 99 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2401A>T r.(?) p.(Lys801*) Unknown ACMG pathogenic g.197396856A>T g.197427726A>T CRB1 c.2401A>T, p.(Lys801*) - CRB1_000007 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 395 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.2401A>T r.(?) p.(Lys801*) Unknown - pathogenic g.197396856A>T g.197427726A>T c.2401A>T, p.Lys801Ter - CRB1_000007 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-007 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T CRB1, variant 1: c.2401A>T/p.K801*, variant 2: c.2687G>A/p.C896Y - CRB1_000007 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1270 PubMed: Weisschuh 2020 Filing key number: 1085, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T CRB1, variant 1: c.2290C>T/p.R764C, variant 2: c.2401A>T/p.K801* - CRB1_000007 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.2401A>T r.(?) p.(Lys801*) Parent #1 - likely pathogenic g.197396856A>T g.197427726A>T CRB1, variant 1: c.498_506del/p.I167_G169del, variant 2: c.2401A>T/p.K801* - CRB1_000007 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1112 PubMed: Weisschuh 2020 Filing key number: 758, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.2401A>T r.(?) p.(Lys801*) Both (homozygous) - VUS g.197396856A>T g.197427726A>T CRB1 nucleotide 1, protein 1:c.2401A>T, p.Lys801* - CRB1_000007 homozygous, 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 19 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - pathogenic g.197396856A>T - c.2401A>T - CRB1_000007 - PubMed: Yzer-2005 - - Germline ? - - - - DNA ? - microarray chip retinal disease 9 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - pathogenic g.197396856A>T - c.2401A>T - CRB1_000007 - PubMed: Yzer-2005 - - Germline ? - - - - DNA ? - microarray chip retinal disease 10 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - pathogenic g.197396856A>T - c.2401A>T - CRB1_000007 - PubMed: Yzer-2005 - - Germline yes - - - - DNA ? - microarray chip retinal disease 11 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #1 - pathogenic g.197396856A>T - c.2401A>T - CRB1_000007 - PubMed: Yzer-2005 - - Germline ? - - - - DNA ? - microarray chip retinal disease 12 PubMed: Yzer-2005 no second allele found - - - - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T CRB1 c.2401A>T, p.K801X - CRB1_000007 heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Wiszniewski 2011 family Ar-611 ? - United States - - - - - 1 LOVD
+?/. - c.2401A>T r.(?) p.(Lys801*) Unknown - likely pathogenic g.197396856A>T g.197427726A>T CRB1 c.2401A>T, p.K801X - CRB1_000007 single allele in a recessive disease; heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Wiszniewski 2011 family Ar-115 ? - United States - - - - - 1 LOVD
+/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #2 - pathogenic g.197396856A>T - c.2401A>T - CRB1_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 7 c.2401A>T r.(?) p.(Lys801*) Parent #2 - pathogenic g.197396856A>T - c.2401A>T - CRB1_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 7 c.2401A>T r.(?) p.(Lys801Ter) Parent #2 ACMG pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066687 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 7 c.2401A>T r.(?) p.(Lys801Ter) Parent #2 ACMG pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071504 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 7 c.2401A>T r.(?) p.(Lys801Ter) Unknown ACMG pathogenic (recessive) g.197396856A>T g.197427726A>T - - CRB1_000007 ACMG PVS1, PM2, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2401A>T r.(?) p.(Lys801Ter) Both (homozygous) - pathogenic (recessive) g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Pradhan 2009 - - Germline - - - - - DNA arraySEQ - - RD Pat3 PubMed: Pradhan 2009 2-generation family, 2 affected sisters, unaffected parents F - New Zealand - - - - - 2 Johan den Dunnen
+/. - c.2401A>T r.(?) p.(Lys801Ter) Parent #1 - pathogenic g.197396856A>T g.197427726A>T - - CRB1_000007 - PubMed: Midgley 2024 - rs137853137 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat14 PubMed: Midgley 2024 - F - South Africa white - - - - 1 Johan den Dunnen
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