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.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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Owner     
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Unknown - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Parent #1 - 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 - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Parent #1 - 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 - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. 2 c.614T>C r.(?) p.Ile205Thr Unknown - pathogenic g.197298095T>C g.197328965T>C ATA>ACA - CRB1_000002 unknown variant 2nd chromosome PubMed: Bernal 2003 - - Germline - - LpnPI+ - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Bernal 2003 2 generation family, 2 affected M no Spain Spanish - - - - 2 Frans Cremers
+/. 2 c.614T>C r.(?) p.Ile205Thr Unknown - pathogenic g.197298095T>C g.197328965T>C ATA>ACA - CRB1_000002 unknown variant 2nd chromosome PubMed: Bernal 2003 - - Germline - - LpnPI+ - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Bernal 2003 2 generation family, 2 affected M no Spain Spanish - - - - 2 Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Unknown - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline no - LpnPI+ - - DNA arraySEQ - - LCA - PubMed: Vallespin 2007 - M ? Spain Spanish - - - - 2 Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Unknown - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline no - LpnPI+ - - DNA arraySEQ - - LCA - PubMed: Vallespin 2007 - M ? Spain Spanish - - - - 2 Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Unknown - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - LpnPI+ - - DNA arraySEQ - - LCA - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 2 Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Unknown - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - LpnPI+ - - DNA arraySEQ - - retinal disease - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Unknown - likely pathogenic g.197298095T>C g.197328965T>C - - CRB1_000002 unknown variant 2nd chromosome PubMed: Booij 2011 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - RPar - PubMed: Booij 2011 - ? ? - ? - - - - 1 Frans Cremers
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.614T>C r.(?) p.(Ile205Thr) Parent #1 - likely pathogenic g.197298095T>C - - - CRB1_000002 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown - VUS g.197298095T>C g.197328965T>C - - CRB1_000002 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat6 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown - VUS g.197298095T>C g.197328965T>C - - CRB1_000002 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat10 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
-/. - c.614T>C r.(?) p.(Ile205Thr) Parent #1 - benign g.197298095T>C g.197328965T>C 6147T>C (Ile205Thr) - CRB1_000002 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown 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 ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 394 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown 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 ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-234 PubMed: RodriguezjalopezMunoz 2020 family fRPN-100, proband M - Spain - - - - - 1 LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown 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 ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-327 PubMed: Rodriguez-Munoz 2020 family fRPN-162, proband F - Spain - - - - - 1 LOVD
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown 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 ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-402 PubMed: Rodriguez-Munoz 2020 family fRPN-183, proband F - Spain - - - - - 1 LOVD
+?/. 2 c.614T>C r.(?) p.(Ile205Thr) Both (homozygous) - likely pathogenic (recessive) g.197298095T>C - c.614T>C - CRB1_000002 - PubMed: Motta-2017 - - Germline - - - - - DNA PE blood Arrayed Primer Extension (APEX) retinal disease 15 PubMed: Motta-2017 - - - Brazil Brazilian - - - - 1 LOVD
-?/. 2 c.614T>C r.(?) p.(Ile205Thr) Unknown ACMG likely benign g.197298095T>C g.197328965T>C - - CRB1_000002 ACMG PM2, PP2, BS2, BP6 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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