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.

71 entries on 1 page. Showing entries 1 - 71.
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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     
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del 1:197297973GGATGGAATT>G ENST00000367400.3:c.498_506delAATTGATGG (Ile167_Gly169del) - CRB1_000211 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005006 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del 1:197297973GGATGGAATT>G ENST00000367400.3:c.498_506delAATTGATGG (Ile167_Gly169del) - CRB1_000211 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005227 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #2 - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Zaneveld 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat80 PubMed: Zaneveld 2015 - - - Canada French-Canadian - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Paternal (confirmed) - pathogenic g.197297979_197297987del g.197328849_197328857del p.[D165-I167 del; G454R] - CRB1_000211 unknown variant 2nd chromosome PubMed: Yzer 2006 - - Germline - - MluCI- - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Yzer 2006 2 generation family, 1 affected ? no - ? - - - - 1 Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- - - DNA PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- - - DNA arraySEQ, MCA - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- - - DNA arraySEQ, DHPLC - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- - - DNA arraySEQ, MCA - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Corton 2013 - - Germline - - MluCI- - - DNA PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - pathogenic 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.498_506del r.(?) p.Ile167_Gly169del Unknown 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 - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Both (homozygous) - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat117 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT/1183G>A - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 347 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 649 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 650 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 960 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #2 - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 346 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #2 - likely pathogenic g.197297979_197297987del g.197328849_197328857del 493_501delGATGGAATT - CRB1_000211 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 818 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 169 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 169 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/29 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #2 - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - 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.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 no genotypes reported PubMed: Sergouniotis 2016 - rs748136623 Germline - 3/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 3 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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 ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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 - - - - DNA arraySNP - - retinal disease RP-0745 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2004 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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 ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI679_001362 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - 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 ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1112 PubMed: Weisschuh 2020 Filing key number: 758, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005006 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown - 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) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005227 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 - PubMed: Maggi_2021 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Both (homozygous) - likely pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 c.498_506del, p.Ile167_Gly169del - CRB1_000211 homozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 117 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Both (homozygous) - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del9 - CRB1_000211 - PubMed: Motta-2017 - - Germline - - - - - DNA SEQ blood Sanger Sequencing retinal disease 14 PubMed: Motta-2017 - - - Brazil Brazilian - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease Leeds-1 PubMed: Khan-2018 - F no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease MEH1-gc20630 PubMed: Khan-2018 - M no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease MEH2-gc17649 PubMed: Khan-2018 - M no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease MEH3-gc17311 PubMed: Khan-2018 - M no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease MEH4-gc22882 PubMed: Khan-2018 - F no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - likely pathogenic (recessive) g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease MEH5 PubMed: Khan-2018 - M no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Both (homozygous) - pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 this in-frame deletion acts as a hypomorphic allele PubMed: Khan-2018 - - Germline - - - - - DNA SEQ-NG blood - retinal disease BDC6 PubMed: Khan-2018 - F no (United Kingdom (Great Britain)) European - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - pathogenic g.197297979_197297987del - c.498_506del9 p.(IIe 167_Gly169del) - CRB1_000211 - PubMed: Khan-2019 - - Germline - - - - - DNA SEQ - - retinal disease P1 PubMed: Khan-2019 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - pathogenic g.197297979_197297987del - c.498_506del9 p.(IIe 167_Gly169del) - CRB1_000211 - PubMed: Khan-2019 - - Germline - - - - - DNA SEQ - - retinal disease P2 PubMed: Khan-2019 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic g.197297979_197297987del g.197328849_197328857del CRB1 c.498_506del, p.(Ile167_Gly169del) - CRB1_000211 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 17_19 PubMed: Zhu 2022 family 17, individual 19 F - - - - - - - 1 LOVD
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 - pathogenic g.197297979_197297987del - c.498_506del - CRB1_000211 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Paternal (confirmed) ACMG pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 ACMG PM2, PM4, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-435 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 ACMG PM2, PM4, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 96659 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1145 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 ACMG PM2, PM4, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-451 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066687 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067226 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067258 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Both (homozygous) ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067295 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070808 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071504 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #1 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072042 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #2 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067160 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Parent #2 ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067161 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 074749 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 075142 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 075158 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067216 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.498_506del r.(?) p.(Ile167_Gly169del) Unknown ACMG pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 ACMG PS4, PM2, PM3, PM4 - - rs748136623 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.498_506del r.(?) p.(Ile167_Gly169del) Maternal (confirmed) - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Cheng 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease patient PubMed: Cheng 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Northern Ireland - - - - - 1 Johan den Dunnen
+/. - c.498_506del r.(498_506del) p.(Ile167_Gly169del) Parent #2 - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del I1e67_Gly169del - CRB1_000211 - PubMed: Oh 2020 - - Germline - - - - - DNA SEQ - - macular dystrophy Pat1 PubMed: Oh 2020 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.498_506del r.(498_506del) p.(Ile167_Gly169del) Parent #2 - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del Ile167_Gly169del - CRB1_000211 - PubMed: Oh 2020 - - Germline - - - - - DNA SEQ - - macular dystrophy Pat2 PubMed: Oh 2020 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
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