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.

20 entries on 1 page. Showing entries 1 - 20.
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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.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 - PubMed: Henderson 2010 - - Germline - - - 0 - Johan den Dunnen
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant), disease-related variants in other gene; does not segregate with disease, not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling
+/. 2 c.614T>C r.(?) p.Ile205Thr - pathogenic g.197298095T>C g.197328965T>C ATA>ACA - CRB1_000002 unknown variant 2nd chromosome PubMed: Bernal 2003 - - Germline - - LpnPI+ 0 - Frans Cremers
+/. 2 c.614T>C r.(?) p.Ile205Thr - pathogenic g.197298095T>C g.197328965T>C ATA>ACA - CRB1_000002 unknown variant 2nd chromosome PubMed: Bernal 2003 - - Germline - - LpnPI+ 0 - Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline no - LpnPI+ 0 - Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline no - LpnPI+ 0 - Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - LpnPI+ 0 - Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - LpnPI+ 0 - Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Booij 2011 - - Germline - - - 0 - Frans Cremers
?/. - c.614T>C r.(?) p.(Ile205Thr) - VUS g.197298095T>C g.197328965T>C CRB1(NM_001257965.1):c.407T>C (p.I136T), CRB1(NM_001257965.2):c.407T>C (p.I136T) - CRB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic g.197298095T>C - - - CRB1_000002 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - Global Variome, with Curator vacancy
?/. - c.614T>C r.(?) p.(Ile205Thr) - VUS g.197298095T>C - CRB1(NM_001257965.1):c.407T>C (p.I136T), CRB1(NM_001257965.2):c.407T>C (p.I136T) - CRB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.614T>C r.(?) p.(Ile205Thr) - VUS g.197298095T>C g.197328965T>C - - CRB1_000002 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) - VUS g.197298095T>C g.197328965T>C - - CRB1_000002 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD
+?/. - c.614T>C r.(?) p.(Ile205Thr) ACMG likely pathogenic g.197298095T>C g.197328965T>C CRB1 c.614T>C, p.(Ile205Thr) - CRB1_000002 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) ACMG VUS g.197298095T>C g.197328965T>C CRB1:NM_201253 c.T614C, p.I205T - CRB1_000002 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - 0 - LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) ACMG VUS g.197298095T>C g.197328965T>C CRB1:NM_201253 c.T614C, p.I205T - CRB1_000002 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - 0 - LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) ACMG VUS g.197298095T>C g.197328965T>C CRB1:NM_201253 c.T614C, p.I205T - CRB1_000002 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - 0 - LOVD
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) - likely pathogenic (recessive) g.197298095T>C - c.614T>C - CRB1_000002 - PubMed: Motta-2017 - - Germline - - - 0 - LOVD
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