All variants in the CRB1 gene

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.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del 7 bp del 204-207 - CRB1_000175 - PubMed: Lotery 2001 - - Germline - 2/190 cases - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - 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 - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del 748-754del - CRB1_000175 not in 180 controls PubMed: Hollander 2001 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 not in 96 controls PubMed: Hanein 2004 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del 7 bp del 204-07 - CRB1_000175 - PubMed: Galvin 2005 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del Glu204 del7 - CRB1_000175 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.611delAAATAGG FS - CRB1_000175 - PubMed: Vallespin 2007 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.611_617delAAATAGG - CRB1_000175 - PubMed: Avila-Fernandez 2010 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Bujakowska 2012 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 - PubMed: Corton 2013 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 - PubMed: Corton 2013 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 - PubMed: Corton 2013 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.613_629del - CRB1_000175 unknown variant 2nd chromosome PubMed: Corton 2013 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.610_616del, p.I205DfsX133 - CRB1_000175 - PubMed: Wang 2013 - - Germline - - - 0 - Frans Cremers
+/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del c.610_616del, p.I205DfsX133 - CRB1_000175 - PubMed: Wang 2013 - - Germline - - - 0 - Frans Cremers
+/. - c.613_619del r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298094_197298100del g.197328964_197328970del 613_619delATAGGAA - CRB1_000175 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - Johan den Dunnen
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) - likely pathogenic (recessive) g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Thompson 2017 - - Germline - - - 0 - LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) - likely pathogenic g.197298094_197298100del g.197328964_197328970del 610_616delGAAATAG - CRB1_000175 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.613_619del r.(?) p.(Ile205AspfsTer13) - likely pathogenic g.197298094_197298100del g.197328964_197328970del 611_617del - CRB1_000175 - PubMed: Riera 2017 - - Germline yes - - 0 - LOVD
+?/. - c.613_619del r.(?) p.(Ile205AspfsTer13) - likely pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Bravo-Gil 2017 - - Germline yes - - 0 - Nereida Bravo Gil
+?/. - c.613_619del r.(?) p.(Ile205AspfsTer13) - likely pathogenic g.197298094_197298100del g.197328964_197328970del - - CRB1_000175 - PubMed: Bravo-Gil 2017 - - Germline - - - 0 - Nereida Bravo Gil
+/. - c.613_619del r.(?) p.(Ile205AspfsTer13) - pathogenic (recessive) g.197298094_197298100del g.197328964_197328970del 613_619delATAGGAA - CRB1_000175 - PubMed: Consugar 2015 - - Germline yes - - 0 - LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) 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 ? - - 0 - LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) 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 ? - - 0 - LOVD
+?/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - 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 - - 0 - LOVD
+?/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - 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) ? - - 0 - LOVD
+?/. 2 c.613_619del r.(?) p.(Ile205Aspfs*13) - 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) ? - - 0 - LOVD
+?/. - c.613_619del r.(?) p.(Ile205Aspfs*13) - 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 ? - - 0 - LOVD
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