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.

18 entries on 1 page. Showing entries 1 - 18.
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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     
+?/+? 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes HpaII+;MspI+;BsgI-;HpyCH4V- 0 - Muhammad Ajmal
+?/+? 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes HpaII+;MspI+;BsgI-;HpyCH4V- 0 - Muhammad Ajmal
+?/+? 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Chen 2013, PubMed: Li 2029, PubMed: Li 2020 - - Germline yes - HpaII+;MspI+;BsgI-;HpyCH4V- 0 - Muhammad Ajmal
+?/+? 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Xu 2012 - - Germline yes 1/100 HpaII+;MspI+;BsgI-;HpyCH4V- 0 - Muhammad Ajmal
+?/+? 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Xu 2012 - - Germline yes 1/100 HpaII+;MspI+;BsgI-;HpyCH4V- 0 - Muhammad Ajmal
+?/+? 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Fu 2013 - - Germline yes - HpaII+ 0 - Muhammad Ajmal
+?/+? 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Fu 2013 - - Germline yes - HpaII+ 0 - Muhammad Ajmal
+/. - c.200T>G r.(?) p.(Leu67Arg) - pathogenic (recessive) g.68912438A>C g.68446755A>C L67R - RPE65_000039 unknown variant 2nd chromosome PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.200T>G r.(?) p.(Leu67Arg) - pathogenic (recessive) g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Safari 2020 - - Germline - - - 0 - LOVD
+?/. - c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Soens 2017 - - Germline - - - 0 - LOVD
+?/. - c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Huang 2018 - - Germline - - - 0 - LOVD
?/. - c.200T>G r.(?) p.(Leu67Arg) - VUS g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Wang 2015 - - Germline - - - 0 - LOVD
+/. - c.200T>G r.(?) p.(Leu67Arg) - pathogenic g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Wang 2015 - - Germline - - - 0 - LOVD
?/. - c.200T>G r.(?) p.(Leu67Arg) - VUS g.68912438A>C g.68446755A>C - - RPE65_000039 - PubMed: Wang 2015 - - Germline - - - 0 - LOVD
+?/. 3 c.200T>G r.(?) p.(Leu67Arg) - likely pathogenic g.68912438A>C - c.[200T>G];[430T>C] - RPE65_000039 - PubMed: Chen-2013 - - Germline - 0/384 controls - 0 - LOVD
+/. 3 c.200T>G r.(?) p.(Leu67Arg) - pathogenic g.68912438A>C - c.200T>G - RPE65_000039 - PubMed: Fu-2013 - - Germline - - - 0 - LOVD
+?/. - c.200T>G r.(?) p.(Leu67Arg) ACMG likely pathogenic g.68912438A>C g.68446755A>C RPE65 NM_000329: g.3205T>G, c.200T>G, p.L67R - RPE65_000039 - PubMed: Xu 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.200T>G r.(?) p.(Leu67Arg) ACMG likely pathogenic g.68912438A>C g.68446755A>C RPE65 NM_000329: g.3205T>G, c.200T>G, p.L67R - RPE65_000039 - PubMed: Xu 2020 - - Germline yes - - 0 - LOVD
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