Full data view for gene RPE65

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 transcript reference sequence.

105 entries on 2 pages. Showing entries 1 - 100.
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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.(271C>T) r.271c>u p.Arg91Trp Both (homozygous) - pathogenic (recessive) g.(68910541G>A) g.(68444858G>A) - - RPE65_000003 knock-in mouse model PubMed: Samardzija 2008 - - animal model - - - - - DNA SEQ - - retinal disease mouse PubMed: Samardzija 2008 knock-in mouse mofel F;M - - - - - - - 1 Johan den Dunnen
+?/. 4 c.271C>T r.(?) p.(Arg91Trp) Parent #1 - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Ripamonti 2014 - - Germline yes 2/18 chromosomes BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Ripamonti 2014 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Khan 2014 - - Germline yes 4/46 chromosomes BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA Pat7-1 PubMed: Khan 2014 - M ? Saudi Arabia - - - - - 2 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Khan 2014 - - Germline yes 4/46 chromosomes BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA Pat7-2 PubMed: Khan 2014 - M ? Saudi Arabia - - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2012 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2012 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2012 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2012 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2009 - - Germline yes 3/117 cases BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - RD - PubMed: Li 2009 - M yes Saudi Arabia Arab - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2009 - - Germline yes 3/117 cases BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - RD - PubMed: Li 2009 - M yes Saudi Arabia Arab - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2009 - - Germline yes 3/117 cases BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - RD - PubMed: Li 2009 - F yes Saudi Arabia Arab - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Seong 2008 - - Germline yes 1/20 cases BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Seong 2008 - ? ? Korea Korean - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Hauswirth 2008 - - Germline yes 1/3 cases BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Hauswirth 2008 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Galvin 2005 - - Germline yes 1/110 cases BsiWI-;CviQI-;RsaI- - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Galvin 2005 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Maternal (confirmed) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 not in 400 controls PubMed: Philpa 2009 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA RT-PCR, HPLC, PAGE - - LCA - PubMed: Philpa 2009 2-generation family, 1 affected F no India Indian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no - Black - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no - white - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - M no - Black - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no - White - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - M no - Asian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Bereta 2008 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Bereta 2008 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Bereta 2008 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Bereta 2008 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Bereta 2008 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal disease - PubMed: Bereta 2008 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2008 - - Germline - - BsiWI- - - DNA SSCA, SEQ - - LCA - PubMed: Jacobson 2008 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2008 - - Germline - - BsiWI- - - DNA SSCA, SEQ - - LCA - PubMed: Jacobson 2008 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2008 - - Germline - - BsiWI- - - DNA SSCA, SEQ - - LCA - PubMed: Jacobson 2008 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected F yes Tunisia Tunisian - - - - 6 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected M yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected F yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected M yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected F yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected ? yes Tunisia Tunisian - - - - 6 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected ? yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected ? yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected ? yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ - - retinal degeneration - PubMed: El Matri 2006 6-generation family, 6 affected ? yes Tunisia Tunisian - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2005 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2005 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C->T - RPE65_000003 - PubMed: Thompson 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C->T - RPE65_000003 - PubMed: Thompson 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C->T - RPE65_000003 - PubMed: Thompson 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Paternal (confirmed) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C>T - RPE65_000003 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - CORD FamLPatLH PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M no Germany Netherlands - - - - 2 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Paternal (confirmed) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C>T - RPE65_000003 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - CORD FamLPatLJ PubMed: Lorenz 2000, PubMed: Lorenz 2004, PubMed: Paunescu 2004 sister F no Germany Netherlands - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Lotery 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - LCA - PubMed: Lotery 2000 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Paternal (confirmed) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - LCA - PubMed: Morimura 1998 - F no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - LCA - PubMed: Morimura 1998 2-generation family, 2 affected F no - ? - - - - 2 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - LCA - PubMed: Morimura 1998 2-generation family, 2 affected M no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Paternal (inferred) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- - - DNA PCR, SEQ, SSCA - - retinal disease - PubMed: Morimura 1998 - F no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Eisenberger 2013 - rs61752871 Germline yes - BsiWI-;CviQI-;RsaI- - - DNA SEQ-NG, PCR, SEQ - - retinal disease - ? - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+/. - c.271C>T r.(?) p.(Arg91Trp) Unknown - pathogenic g.68910541G>A g.68444858G>A - - RPE65_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic g.68910541G>A g.68444858G>A - - RPE65_000003 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61752871 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
+/. - c.271C>T - p.Arg91Trp Unknown - NA g.68910541G>A g.68444858G>A R01W - RPE65_000003 expression cloning abolished isomerohydrolase activity, reduced protein level, descreased protein stability, probably disrupted membrane association PubMed: Takahashi 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease F08PatII2 PubMed: Li 2019 - F - China - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease F10PatII1 PubMed: Li 2019 - M - China - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease F11PatII1 PubMed: Li 2019 - M - China - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease F12PatII1 PubMed: Li 2019 - F - China - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Magliyah 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Magliyah 2019 - F - Saudi Arabia - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Magliyah 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Magliyah 2019 - M - Saudi Arabia - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Magliyah 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Magliyah 2019 - M - Saudi Arabia - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatN1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before F - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatX1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatX2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before F - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatY1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatY2 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before F - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatY3 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before M - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #2 - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - pathogenic (recessive) g.68910541G>A g.68444858G>A 325C>T - RPE65_000003 - PubMed: Habibi 2016, PubMed: Habibi 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease F7 PubMed: Habibi 2016, PubMed: Habibi 2017 family - - Tunisia - - - - - 1 LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) Parent #1 - likely pathogenic g.68910541G>A g.68444858G>A c.C271T p.R91W - RPE65_000003 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam33 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG2105 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
?/. 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - VUS g.68910541G>A - c.271C>T - RPE65_000003 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood exome sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 1 LOVD
?/. 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - VUS g.68910541G>A - c.271C>T - RPE65_000003 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood exome sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 1 LOVD
+/. 4 c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) - pathogenic g.68910541G>A - c.271C>T - RPE65_000003 - PubMed: Eisenberger-2013 - rs61752871 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F ? Saudi Arabia - - - - - 1 LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) Unknown ACMG pathogenic g.68910541G>A g.68444858G>A RPE65 c.271C>T, p.(Arg91Trp), c.271C>T, p.(Arg91Trp) - RPE65_000003 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 247 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) Both (homozygous) ACMG likely pathogenic g.68910541G>A g.68444858G>A RPE65 c.271C>Tp.(Arg91Trp), c.271C>T, p.(Arg91Trp), EYS c.8429C>T, p.(The2810Ile) - RPE65_000003 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 248 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) Unknown - likely pathogenic g.68910541G>A g.68444858G>A RPE65 c.271C>T, p.R91W - RPE65_000003 heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Wiszniewski 2011 family Ar-089 ? - United States - - - - - 1 LOVD
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