All variants in the RPE65 gene

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.

104 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. - c.(271C>T) r.271c>u p.Arg91Trp - pathogenic (recessive) g.(68910541G>A) g.(68444858G>A) - - RPE65_000003 knock-in mouse model PubMed: Samardzija 2008 - - animal model - - - 0 - Johan den Dunnen
+?/. 4 c.271C>T r.(?) p.(Arg91Trp) - 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 - - 0 - Kornelia Neveling
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Ripamonti 2014 - - Germline yes 2/18 chromosomes BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Khan 2014 - - Germline yes 4/46 chromosomes BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Khan 2014 - - Germline yes 4/46 chromosomes BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2012 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2009 - - Germline yes 3/117 cases BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2009 - - Germline yes 3/117 cases BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2009 - - Germline yes 3/117 cases BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Seong 2008 - - Germline yes 1/20 cases BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Hauswirth 2008 - - Germline yes 1/3 cases BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - 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- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 not in 400 controls PubMed: Philpa 2009 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2009 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Bereta 2008 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Bereta 2008 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Bereta 2008 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2008 - - Germline - - BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2008 - - Germline - - BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2008 - - Germline - - BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: El Matri 2006 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2005 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C->T - RPE65_000003 - PubMed: Thompson 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C->T - RPE65_000003 - PubMed: Thompson 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C->T - RPE65_000003 - PubMed: Thompson 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C>T - RPE65_000003 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A 325C>T - RPE65_000003 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Lotery 2000 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Morimura 1998 - - Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Eisenberger 2013 - rs61752871 Germline yes - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+?/+? 4 c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Jacobson 2007 - - Germline - - BsiWI-;CviQI-;RsaI- 0 - Muhammad Ajmal
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic g.68910541G>A g.68444858G>A - - RPE65_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.271C>T r.(?) p.(Arg91Trp) - 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 - 0 - Mohammed Faruq
+/. - c.271C>T - p.Arg91Trp - 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) - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Li 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Magliyah 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Magliyah 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Magliyah 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) - pathogenic (recessive) g.68910541G>A g.68444858G>A 325C>T - RPE65_000003 - PubMed: Habibi 2016, PubMed: Habibi 2017 - - Germline - - - 0 - LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic g.68910541G>A g.68444858G>A c.C271T p.R91W - RPE65_000003 - PubMed: Wang 2016 - - Germline - - - 0 - LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic g.68910541G>A g.68444858G>A - - RPE65_000003 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
?/. 4 c.271C>T r.(?) p.(Arg91Trp) - unclassified g.68910541G>A - c.271C>T - RPE65_000003 - PubMed: Abu-Safieh-2013 - - Germline - - - 0 - LOVD
?/. 4 c.271C>T r.(?) p.(Arg91Trp) - unclassified g.68910541G>A - c.271C>T - RPE65_000003 - PubMed: Abu-Safieh-2013 - - Germline - - - 0 - LOVD
+/. 4 c.271C>T r.(?) p.(Arg91Trp) - pathogenic g.68910541G>A - c.271C>T - RPE65_000003 - PubMed: Eisenberger-2013 - rs61752871 Germline - - - 0 - LOVD
+/. - c.271C>T r.(?) p.(Arg91Trp) 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 ? - - 0 - LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) 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 ? - - 0 - LOVD
+?/. - c.271C>T r.(?) p.(Arg91Trp) - likely pathogenic g.68910541G>A g.68444858G>A RPE65 c.271C>T, p.R91W - RPE65_000003 heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - 0 - LOVD
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