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.

80 entries on 1 page. Showing entries 1 - 80.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Parent #2 - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - RPar - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Parent #1 - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Parent #2 - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - pathogenic g.197396689C>T g.197427559C>T 2369C>T - CRB1_000021 not in 100 controls PubMed: den Hollander 1999 - - Germline - - BsmI+ - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? Netherlands Dutch - - - - 1 Frans Cremers
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - pathogenic g.197396689C>T g.197427559C>T 2369C>T - CRB1_000021 not in 100 controls PubMed: den Hollander 1999 - - Germline - - BsmI+ - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? United Kingdom (Great Britain) British - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 not in 96 controls PubMed: Hanein 2004 - - Germline - - BsmI+ - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Hanein 2004 - ? ? France French - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Paternal (inferred) - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: den Hollander 2004 - - Germline - - BsmI+ - - DNA SSCA, PCR, SEQ - - RP12 - PubMed: den Hollander 2004 - ? ? - ? - - - - 3 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: den Hollander 2004 - - Germline - - BsmI+ - - DNA SSCA, PCR, SEQ - - RP12 - PubMed: den Hollander 2004 - ? ? - ? - - - - 3 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: den Hollander 2004 - - Germline - - BsmI+ - - DNA SSCA, PCR, SEQ - - RP12 - PubMed: den Hollander 2004 - ? ? - ? - - - - 3 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T c.2334C>T - CRB1_000021 - PubMed: Simonelli 2007 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T Thr745Met - CRB1_000021 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 2 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T Thr745Met - CRB1_000021 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 2 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 unknown variant 2nd chromosome PubMed: Clark 2010 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Clark 2010 - ? ? Ireland Irish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Avila-Fernandez 2010 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Avila-Fernandez 2010 2 generations family, 2 affected, 3 unafceted F no Spain Spanish - - - - 2 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Avila-Fernandez 2010 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Avila-Fernandez 2010 2 generations family, 2 affected, 3 unafceted M no Spain Spanish - - - - 2 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Corton 2013 - - Germline - - BsmI+ - - DNA arraySEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Corton 2013 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Corton 2013 - - Germline - - BsmI+ - - DNA arraySEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Corton 2013 - - Germline - - BsmI+ - - DNA arraySEQ, DHPLC - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T c.2236C>T - CRB1_000021 - PubMed: Beryozkin 2013 - - Germline - - BsmI+ - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Beryozkin 2013 - ? ? - Arab, muslim - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 unknown variant 2nd chromosome PubMed: Booij 2011 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - RPar - PubMed: Booij 2011 - ? ? - ? - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Parent #1 - likely pathogenic g.197396689C>T g.197427559C>T CRB1 p.Thr126Met - CRB1_000021 unknown variant 2nd chromosome PubMed: Anasagasti 2013 - - Germline - - - - - DNA SEQ-NG, MCA, PCR, SEQ - - retinal disease - PubMed: Anasagasti 2013 - - - Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Paternal (inferred) - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Abu-Safieh 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 1 Frans Cremers
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - pathogenic g.197396689C>T g.197427559C>T 2369C>T - CRB1_000021 not in 100 controls PubMed: den Hollander 1999 - - Germline - - BsmI+ - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? Netherlands Dutch - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Maternal (inferred) - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: den Hollander 2004 - - Germline - - BsmI+ - - DNA SSCA, PCR, SEQ - - RP12 - PubMed: den Hollander 2004 - ? ? - ? - - - - 3 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.Thr745Met Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Yzer 2006 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Yzer 2006 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T c.2334C>T - CRB1_000021 - PubMed: Simonelli 2007 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T T745M - CRB1_000021 - PubMed: Simonelli 2007 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T p.Thr745Met - CRB1_000021 - PubMed: Aleman 2011 - - Germline - - BsmI+ - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Jalkh 2014 - - Germline - - BsmI+ - - DNA PCR, SEQ - - LCA - PubMed: Jalkh 2014 3 generation family, 8 affected M no Lebanon Lebanese - - - - 8 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Jalkh 2014 - - Germline - - BsmI+ - - DNA PCR, SEQ - - LCA - PubMed: Jalkh 2014 3 generation family, 8 affected F no Lebanon Lebanese - - - - 8 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Jalkh 2014 - - Germline - - BsmI+ - - DNA PCR, SEQ - - RD - PubMed: Jalkh 2014 3 generation family, 8 affected M no Lebanon Lebanese - - - - 8 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Jalkh 2014 - - Germline - - BsmI+ - - DNA PCR, SEQ - - RD - PubMed: Jalkh 2014 3 generation family, 8 affected M no Lebanon Lebanese - - - - 8 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Jalkh 2014 - - Germline - - BsmI+ - - DNA PCR, SEQ - - RD - PubMed: Jalkh 2014 3 generation family, 8 affected M no Lebanon Lebanese - - - - 8 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Corton 2013 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Corton 2013 - - Germline - - BsmI+ - - DNA arraySEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T c.2236C>T - CRB1_000021 - PubMed: Beryozkin 2013 - - Germline - - BsmI+ - - DNA arraySNP, PCR, SEQ - - retinal disease - PubMed: Beryozkin 2013 - ? ? - Arab, muslim - - - - 1 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Yang 2014 - - Germline - - BsmI+ - - DNA SEQ-NG-I, PCR, SEQ - - RD - PubMed: Yang 2014 - F ? China Chinese - - - - 2 Frans Cremers
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Maternal (inferred) - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Abu-Safieh 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 1 Frans Cremers
+?/. - c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T CRB1(NM_001257965.1):c.2027C>T (p.T676M), CRB1(NM_001257965.2):c.2027C>T (p.T676M) - CRB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2234C>T r.(?) p.(Thr745Met) Parent #1 - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - F - - - - - - - 1 Marta de Castro-Miró
+/. - c.2234C>T r.(?) p.(Thr745Met) Unknown - pathogenic g.197396689C>T g.197427559C>T CRB1(NM_001257965.1):c.2027C>T (p.T676M), CRB1(NM_001257965.2):c.2027C>T (p.T676M) - CRB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2234C>T r.(?) p.(Thr745Met) Parent #1 - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28939720 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2234C>T r.(?) p.(Thr745Met) Unknown - pathogenic g.197396689C>T - CRB1(NM_001257965.1):c.2027C>T (p.T676M), CRB1(NM_001257965.2):c.2027C>T (p.T676M) - CRB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2234C>T r.(?) p.(Thr745Met) Parent #1 - likely pathogenic (recessive) g.197396689C>T g.197427559C>T NM_001193640:c.1898C>T - CRB1_000021 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat16 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+?/. - c.2234C>T r.(?) p.(Thr745Met) Parent #2 - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 435 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12014625 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+/. - c.2234C>T r.(?) p.(Thr745Met) Parent #2 - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 125 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.2234C>T r.(?) p.(Thr745Met) Parent #2 - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 625 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - pathogenic (recessive) g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Maria 2015 - - Germline - - - - - DNA arraySNP, SEQ - - retinal disease Fam10 PubMed: Maria 2015 family - yes Pakistan - - - - - 2 LOVD
+/. - c.2234C>T r.(?) p.(Thr745Met) Parent #2 - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp79 PubMed: Zhao 2015 family - - Northern Ireland - - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - pathogenic g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. - c.2234C>T r.(?) p.(Thr745Met) Unknown ACMG likely pathogenic g.197396689C>T g.197427559C>T CRB1 c.613_619del, p.(Ile205Aspfs*13), c.2234C>T, p.(Thr745Met) - CRB1_000021 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 98 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - likely pathogenic g.197396689C>T g.197427559C>T Allele 1 c.2234C>T (p.Thr745Met), Allele 2 c.2234C>T (p.Thr745Met) - CRB1_000021 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. - c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - likely pathogenic g.197396689C>T g.197427559C>T Allele 1 c.2234C>T, p.(Thr745Met), Allele 2 c.2234C>T, p.(Thr745Met) - CRB1_000021 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T CRB1 Ex.7 c.2234C>T p.(Thr745Met), Ex.7 c.2416G>T p.(Glu806*) - CRB1_000021 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1017 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - likely pathogenic g.197396689C>T g.197427559C>T CRB1 Ex.7 c.2234C>T p.(Thr745Met), Ex.7 c.2234C>T p.(Thr745Met) - CRB1_000021 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1586 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic g.197396689C>T g.197427559C>T CRB1 Ex.2 c.498_506del p.(Ile167_Gly169del), Ex.7 c.2234C>T p.(Thr745Met) - CRB1_000021 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
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - likely pathogenic g.197396689C>T g.197427559C>T c.2234C>T, p.(Thr745Met) - CRB1_000021 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066880 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
+?/. - c.2234C>T r.(?) p.(Thr745Met) Parent #1 - likely pathogenic g.197396689C>T g.197427559C>T CRB1, variant 1: c.2234C>T/p.T745M, variant 2: c.2234C>T/p.T745M - CRB1_000021 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1229 PubMed: Weisschuh 2020 Filing key number: 974, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2234C>T r.(?) p.(Thr745Met) Parent #1 - likely pathogenic g.197396689C>T g.197427559C>T CRB1, variant 1: c.803_806del/p.S268Nfs*33, variant 2: c.2234C>T/p.T745M - CRB1_000021 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 927 PubMed: Weisschuh 2020 Filing key number: 397, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - VUS g.197396689C>T g.197427559C>T CRB1 nucleotide 1, protein 1:c.2234C>T, p.Thr745Met - CRB1_000021 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 18 PubMed: Hull 2020 - ? - New Zealand Middle Eastern - - - - 1 LOVD
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic (recessive) g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, MLPA - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - likely pathogenic (recessive) g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown - pathogenic (recessive) g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Colombo-2020 - rs28939720 De novo - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - pathogenic (recessive) g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Colombo-2020 - rs28939720 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Parent #2 - pathogenic g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Yzer-2005 - - Germline yes - - - - DNA ? - microarray chip retinal disease 5 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Parent #2 - pathogenic g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Yzer-2005 - - Germline yes - - - - DNA ? - microarray chip retinal disease 8 PubMed: Yzer-2005 - - - - - - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Paternal (confirmed) - pathogenic (recessive) g.197396689C>T - c.2234C>T, p.Thr745Met - CRB1_000021 - PubMed: Ghofrani-2017 - - Germline yes - - - - DNA SEQ blood homozygosity mapping retinal disease W13-1504: V-3 PubMed: Ghofrani-2017 - F yes Iran Iranian - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Paternal (confirmed) - pathogenic (recessive) g.197396689C>T - c.2234C>T, p.Thr745Met - CRB1_000021 - PubMed: Ghofrani-2017 - - Germline yes - - - - DNA SEQ blood homozygosity mapping retinal disease W13-1504: V-6 PubMed: Ghofrani-2017 - F yes Iran Iranian - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Parent #2 - pathogenic g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Stingl-2019 - - Germline - - - - - DNA SEQ - - retinal disease CRB1-04 PubMed: Stingl-2019 - F - - - - - - - 1 LOVD
+/. 7 c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - pathogenic g.197396689C>T - c.2234C>T - CRB1_000021 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.2234C>T r.(?) p.(Thr745Met) Unknown ACMG pathogenic (recessive) g.197396689C>T g.197427559C>T - - CRB1_000021 ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-483 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. - c.2234C>T r.(?) p.(Thr745Met) Unknown ACMG pathogenic (recessive) g.197396689C>T g.197427559C>T - - CRB1_000021 ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? LCA-158 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+?/. 7 c.2234C>T r.(?) p.(Thr745Met) Unknown ACMG likely pathogenic (recessive) g.197396689C>T g.197427559C>T - - CRB1_000021 ACMG PM1, PM2, PM3, PM5, PP2, PP3, PP5 - - rs28939720 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2234C>T r.(?) p.(Thr745Met) Parent #1 - pathogenic (recessive) g.197396689C>T g.197427559C>T Thr745Met - CRB1_000021 - 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.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Midgley 2024 - rs28939720 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat4 PubMed: Midgley 2024 - M - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
+/. - c.2234C>T r.(?) p.(Thr745Met) Parent #1 - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Midgley 2024 - rs28939720 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat27 PubMed: Midgley 2024 - F - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
+/. - c.2234C>T r.(?) p.(Thr745Met) Both (homozygous) - pathogenic g.197396689C>T g.197427559C>T - - CRB1_000021 - PubMed: Midgley 2024 - rs28939720 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat52 PubMed: Midgley 2024 - F - South Africa mixed - - - - 1 Johan den Dunnen
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