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.

42 entries on 1 page. Showing entries 1 - 42.
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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.498_506del r.(?) p.(Ile167_Gly169del) - pathogenic g.197297979_197297987del g.197328849_197328857del p.[D165-I167 del; G454R] - CRB1_000211 unknown variant 2nd chromosome PubMed: Yzer 2006 - - Germline - - MluCI- 0 - Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- 0 - Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- 0 - Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- 0 - Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- 0 - Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- 0 - Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- 0 - Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- 0 - Frans Cremers
?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - VUS g.197297979_197297987del g.197328849_197328857del CRB1(NM_001257965.1):c.291_299delAATTGATGG (p.I98_G100del), CRB1(NM_001257965.2):c.291_299delAATTGATGG (p.I98_G100del) - CRB1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - VUS g.197297979_197297987del g.197328849_197328857del CRB1(NM_001257965.1):c.291_299delAATTGATGG (p.I98_G100del), CRB1(NM_001257965.2):c.291_299delAATTGATGG (p.I98_G100del) - CRB1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.498_506del r.(?) p.Ile167_Gly169del ACMG likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 ACMG grading: PM3,PM4,PS4; reported in Corton 2013. Orphanet J Rare Dis 8: 20; Zaneveld 2015. Genet Med 17: 262; Carss 2017. Am J Hum Genet 100: 75; Birtel 2018. Sci Rep 8: 4824; Khan 2018. Eur J Hum Genet 26: 687-694 - - rs748136623 Germline - - - 0 - Andreas Laner
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - pathogenic (recessive) g.197328849_197328857del - - - CRB1_000211 - PubMed: Birtel 2018 - - Germline - - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT/1183G>A - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) - pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - LOVD
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) - pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Riera 2017 - - Germline yes - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Bravo-Gil 2017 - - Germline - - - 0 - Nereida Bravo Gil
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 no genotypes reported PubMed: Sergouniotis 2016 - rs748136623 Germline - 3/486 individuals - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del c.498_506del9, p.Cys948Tyr:c.2843G/A (alleles in trans) - CRB1_000211 - PubMed: Hariri 2018 - - Germline ? - - 0 - LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 Ex.2 c.498_506del p.(Ile167_Gly169del), Ex.7 c.2290C>T p.(Arg764Cys) - CRB1_000211 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - 0 - LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 Ex.2 c.498_506del p.(Ile167_Gly169del), Ex.7 c.2234C>T p.(Thr745Met) - CRB1_000211 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 c.498_506del, p.Ile167_Gly169del - CRB1_000211 Unable to find ClinVar entry, heterozygous PubMed: Zampaglione-2020 - - Unknown ? - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1, variant 1: c.498_506del/p.I167_G169del, variant 2: c.2401A>T/p.K801* - CRB1_000211 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 c.498_506delAATTGATGG, p.Ile167_Gly169del - CRB1_000211 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 c.498_506delAATTGATGG, p.Ile167_Gly169del - CRB1_000211 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 - PubMed: Maggi_2021 - - Germline yes - - 0 - LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 c.498_506del, p.Ile167_Gly169del - CRB1_000211 homozygous PubMed: Gliem 2020 - - Unknown ? - - 0 - LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del9 - CRB1_000211 - PubMed: Motta-2017 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - pathogenic g.197297979_197297987del - c.498_506del9 p.(IIe 167_Gly169del) - CRB1_000211 - PubMed: Khan-2019 - - Germline - - - 0 - LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) - pathogenic g.197297979_197297987del - c.498_506del9 p.(IIe 167_Gly169del) - CRB1_000211 - PubMed: Khan-2019 - - Germline - - - 0 - LOVD
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