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.

35 entries on 1 page. Showing entries 1 - 35.
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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     
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes LpnPI +;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes LpnPI +;BsiWI- 0 - Muhammad Ajmal
-/- 4 c.272G>A r.(?) p.(Arg91Gln) - benign g.68910540C>T g.68444857C>T - - RPE65_000081 not in 400 controls PubMed: Philpa 2009 - - Germline yes - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2008 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline yes - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Simovich 2001 - - Germline yes - LpnPI+;BsiWI- 0 - Muhammad Ajmal
-/- 4 c.272G>A r.(?) p.(Arg91Gln) - benign g.68910540C>T g.68444857C>T 326G->A - RPE65_000081 - PubMed: Thompson 2000 - - Germline yes - SunI+ 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline - - LpnPI+;BsiWI- 0 - Muhammad Ajmal
+/. - c.272G>A r.(?) p.(Arg91Gly) - pathogenic (recessive) g.68910540C>T g.68444857C>T R91Q - RPE65_000081 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic (recessive) g.68910540C>T g.68444857C>T R91Q - RPE65_000081 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic (recessive) g.68910540C>T g.68444857C>T R91Q - RPE65_000081 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic (recessive) g.68910540C>T - - - RPE65_000081 - PubMed: Porto 2017 - - Germline - - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Soens 2017 - - Germline - - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) - likely pathogenic g.68910540C>T g.68444857C>T - - RPE65_000081 - 0 - - Germline yes - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) ACMG pathogenic g.68910540C>T g.68444857C>T RPE65 NM_000329: g.5103G>A, c.272G>A, p.R91Q - RPE65_000081 - PubMed: Xu 2020 - - Germline yes - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 homozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) - pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A, p.Arg91Gln - RPE65_000081 heterozygous PubMed: Scholl 2015 - - Unknown ? - - 0 - LOVD
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