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.

42 entries on 1 page. Showing entries 1 - 42.
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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     
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del 7 bp del 204-207 - CRB1_000175 - PubMed: Lotery 2001 - - Germline - 2/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 2 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del 7 bp del 612-619 - CRB1_000175 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 2/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 2 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del 748-754del - CRB1_000175 not in 180 controls PubMed: Hollander 2001 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Hollander 2001 - ? ? - ? - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 not in 96 controls PubMed: Hanein 2004 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Hanein 2004 - ? ? France French - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del 7 bp del 204-07 - CRB1_000175 - PubMed: Galvin 2005 - - Germline - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Galvin 2005 - ? ? - ? - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 7 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 7 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 7 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 7 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 7 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 7 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 7 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del c.611delAAATAGG FS - CRB1_000175 - PubMed: Vallespin 2007 - - Germline - - - - - DNA arraySEQ - - LCA - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del c.611_617delAAATAGG - CRB1_000175 - PubMed: Avila-Fernandez 2010 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Avila-Fernandez 2010 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - likely pathogenic g.197298094_197298100del g.197328964_197328970del p.Glu204del7 (del7GAAATAG) - CRB1_000175 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Bujakowska 2012 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Bujakowska 2012 2 generation family, 1 affected F no France French - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, DHPLC - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 unknown variant 2nd chromosome PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Paternal (inferred) - pathogenic g.197298094_197298100del g.197328964_197328970del c.610_616del, p.I205DfsX133 - CRB1_000175 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ-NG-S, PCR, SEQ - - LCA - PubMed: Wang 2013 - ? ? - ? - - - - 1 Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Maternal (inferred) - pathogenic g.197298094_197298100del g.197328964_197328970del c.610_616del, p.I205DfsX133 - CRB1_000175 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ-NG-S, PCR, SEQ - - LCA - PubMed: Wang 2013 - ? ? - ? - - - - 1 Frans Cremers
+/. - c.613_619del r.(?) p.(Ile205Aspfs*13) Parent #1 - pathogenic g.197298094_197298100del g.197328964_197328970del 613_619delATAGGAA - CRB1_000175 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3480 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) Parent #1 - likely pathogenic (recessive) g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam2274 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) Parent #2 - likely pathogenic g.197298094_197298100del g.197328964_197328970del 610_616delGAAATAG - CRB1_000175 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 13 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.613_619del r.(?) p.(Ile205AspfsTer13) Parent #1 - likely pathogenic g.197298094_197298100del g.197328964_197328970del 611_617del - CRB1_000175 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/13 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+?/. - c.613_619del r.(?) p.(Ile205AspfsTer13) Parent #1 - likely pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Bravo-Gil 2017 - - Germline yes - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat24 PubMed: Bravo-Gil 2017 family - - Spain - - - - - 1 Nereida Bravo Gil
+?/. - c.613_619del r.(?) p.(Ile205AspfsTer13) Parent #1 - likely pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat37 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
+/. - c.613_619del r.(?) p.(Ile205AspfsTer13) Both (homozygous) - pathogenic (recessive) g.197298094_197298100del g.197328964_197328970del 613_619delATAGGAA - CRB1_000175 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-455-966 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Both (homozygous) - pathogenic (recessive) g.197298094_197298100del g.197328964_197328970del 611_617delAAATAGG - CRB1_000175 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown ACMG likely pathogenic g.197298094_197298100del g.197328964_197328970del CRB1 c.613_619del, p.(Ile205Aspfs*13), c.4154A>G, p.(Glu1385Gly) - CRB1_000175 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 96 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown ACMG likely pathogenic g.197298094_197298100del g.197328964_197328970del CRB1 c.613_619del, p.(Ile205Aspfs*13), c.2234C>T, p.(Thr745Met) - CRB1_000175 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 98 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - likely pathogenic g.197298094_197298100del g.197328964_197328970del CNGB1 Ex.11 c.801del p.(Leu267Phefs*10), Ex.21 c.2104T>A p.(Tyr702Asn), CRB1: Ex.2 c.613_619del (p.Ile205Aspfs*13) - CRB1_000175 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1311 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Both (homozygous) - likely pathogenic g.197298094_197298100del g.197328964_197328970del CRB1 Ex.2 c.613_619del p.(Ile205Aspfs*13), Ex.2 c.613_619del p.(Ile205Aspfs*13) - CRB1_000175 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-2400 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) Unknown - likely pathogenic g.197298094_197298100del g.197328964_197328970del CRB1 Ex.2 c.613_619del (p.Ile205Aspfs*13), IVS2 c.653-1G>T p.(?) - CRB1_000175 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-2853 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) Parent #1 - likely pathogenic g.197298094_197298100del g.197328964_197328970del CRB1, variant 1: c.613_619del/p.I205Dfs*13, variant 2: c.3062T>C/p.L1021P - CRB1_000175 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1235 PubMed: Weisschuh 2020 Filing key number: 991, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 2 c.613_619del r.(?) p.(Ile205AspfsTer13) Unknown ACMG pathogenic (recessive) g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 ACMG PVS1, PM2, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.3158T>G r.(?) p.(Met1053Arg) Both (homozygous) - likely pathogenic g.197404151T>G g.197435021T>G c.3159T>G - CRB1_000175 - PubMed: Aldahmesh 2009 - - Germline - - XcmI- - - DNA PCR, SEQ - - retinal disease DGU-F11-II:1 PubMed: Aldahmesh 2009 2-generation family,4-affected M yes Saudi Arabia Arab - - - - 4 Frans Cremers
+?/. 9 c.3158T>G r.(?) p.(Met1053Arg) Both (homozygous) - likely pathogenic g.197404151T>G g.197435021T>G c.3159T>G - CRB1_000175 - PubMed: Aldahmesh 2009 - - Germline - - XcmI- - - DNA PCR, SEQ - - retinal disease DGU-F11-II:3 PubMed: Aldahmesh 2009 PatII3 M yes Saudi Arabia Arab - - - - 1 Frans Cremers
+?/. 9 c.3158T>G r.(?) p.(Met1053Arg) Both (homozygous) - likely pathogenic g.197404151T>G g.197435021T>G c.3159T>G - CRB1_000175 - PubMed: Aldahmesh 2009 - - Germline - - XcmI- - - DNA PCR, SEQ - - retinal disease DGU-F11-II:6 PubMed: Aldahmesh 2009 PatII6 M yes Saudi Arabia Arab - - - - 1 Frans Cremers
+?/. 9 c.3158T>G r.(?) p.(Met1053Arg) Both (homozygous) - likely pathogenic g.197404151T>G g.197435021T>G c.3159T>G - CRB1_000175 - PubMed: Aldahmesh 2009 - - Germline - - XcmI- - - DNA PCR, SEQ - - retinal disease DGU-F11-II:8 PubMed: Aldahmesh 2009 PatII8 M yes Saudi Arabia Arab - - - - 1 Frans Cremers
+?/. 9 c.3158T>G r.(?) p.(Met1053Arg) Unknown ACMG likely pathogenic (recessive) g.197404151T>G g.197435021T>G - - CRB1_000175 ACMG PM1, PM2, PP2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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